Alagille Syndrome
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Receptor, Notch2
Chromosomes, Human, Pair 20
Calcium-Binding Proteins
Intercellular Signaling Peptides and Proteins
Regulatory proteins and peptides that are signaling molecules involved in the process of PARACRINE COMMUNICATION. They are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. They are distinguished from HORMONES in that their actions are local rather than distal.
Facies
Receptors, Notch
A family of conserved cell surface receptors that contain EPIDERMAL GROWTH FACTOR repeats in their extracellular domain and ANKYRIN repeats in their cytoplasmic domains. The cytoplasmic domain of notch receptors is released upon ligand binding and translocates to the CELL NUCLEUS where it acts as transcription factor.
Cholestasis
Membrane Proteins
Defects in mouse mammary gland development caused by conditional haploinsufficiency of Patched-1. (1/67)
In vertebrates, the hedgehog family of cell signaling proteins and associated downstream network components play an essential role in mediating tissue interactions during development and organogenesis. Loss-of-function or misexpression mutation of hedgehog network components can cause birth defects, skin cancer and other tumors. The mammary gland is a specialized skin derivative requiring epithelial-epithelial and epithelial-stromal tissue interactions similar to those required for development of other organs, where these interactions are often controlled by hedgehog signaling. We have investigated the role of the Patched-1 (Ptc1) hedgehog receptor gene in mammary development and neoplasia. Haploinsufficiency at the Ptc1 locus results in severe histological defects in ductal structure, and minor morphological changes in terminal end buds in heterozygous postpubescent virgin animals. Defects are mainly ductal hyperplasias and dysplasias characterized by multilayered ductal walls and dissociated cells impacting ductal lumens. This phenotype is 100% penetrant. Remarkably, defects are reverted during late pregnancy and lactation but return upon involution and gland remodeling. Whole mammary gland transplants into athymic mice demonstrates that the observed dysplasias reflect an intrisic developmental defect within the gland. However, Ptc1-induced epithelial dysplasias are not stable upon transplantation into a wild-type epithelium-free fat pad, suggesting stromal (or epithelial and stromal) function of Ptc1. Mammary expression of Ptc1 mRNA is both epithelial and stromal and is developmentally regulated. Phenotypic reversion correlates with developmentally regulated and enhanced expression of Indian hedgehog (Ihh) during pregnancy and lactation. Data demonstrate a critical mammary role for at least one component of the hedgehog signaling network and suggest that Ihh is the primary hedgehog gene active in the gland. (+info)The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. (2/67)
The establishment of the cardiovascular system represents an early, critical event essential for normal embryonic development, and defects in cardiovascular development are a frequent cause of both in utero and neonatal demise. Congenital cardio-vascular malformations, the most frequent birth defect, can occur as isolated events, but are frequently presented clinically within the context of a constellation of defects that involve multiple organs and that define a specific syndrome. In addition, defects can be a primary effect of gene mutations or result from secondary effects of altered cardiac physiology. Alagille syndrome (AGS) is an autosomal dominant disorder characterized by developmental abnormalities of the heart, liver, eye, skeleton and kidney. Congenital heart defects, the majority of which affect the right-sided or pulmonary circulation, contribute significantly to mortality in AGS patients. Recently, mutations in Jagged1 ( JAG1 ), a conserved gene of the Notch intercellular signaling pathway, have been found to cause AGS. In order to begin to delineate the role of JAG1 in normal heart development we have studied the expression pattern of JAG1 in both the murine and human embryonic heart and vascular system. Here, we demonstrate that JAG1 is expressed in the developing heart and multiple associated vascular structures in a pattern that correlates with the congenital cardiovascular defects observed in AGS. These data are consistent with an important role for JAG1 and Notch signaling in early mammalian cardiac development. (+info)Living related donor liver transplantation in a patient with severe aortic stenosis. (3/67)
We report the successful anaesthetic management of a young girl with Alagille's syndrome and severe aortic stenosis (resting pressure gradient 88 mm Hg) undergoing living related donor liver transplantation (LRDLT). The patient had end-stage liver disease and LRDLT was performed before replacement of the aortic valve. Anaesthesia was conducted uneventfully with the aid of a pulmonary artery catheter. Intra-aortic balloon pumping was used in the perioperative period for protection against myocardial ischaemia. Total clamping of the inferior vena cava was avoided during surgery and volume administration was guided by the pulmonary artery pressure. A stable circulation was maintained in the reperfusion period. The patient was discharged from hospital on day 54 after operation with normal liver function. Two years later her aortic valve was replaced successfully. (+info)JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype. (4/67)
Alagille syndrome (AGS, MIM 118450) is an autosomal dominant disorder with a variable phenotype characterised by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance. Mutations within the gene JAGGED1 (JAG1), which encodes a ligand for NOTCH receptor(s), has been shown to cause Alagille syndrome. Interactions of NOTCH receptors and their ligands influence cell fate decisions in several developmental pathways. We report the tissue expression of JAG1 in human embryos. We have performed tissue in situ hybridisation on human embryos aged 32-52 days using (35)S labelled riboprobes for JAG1. JAG1 is expressed in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. We conclude that JAG1 is expressed in the structures affected in Alagille syndrome, such as the pulmonary artery, anterior chamber of the eye, and face. (+info)Does liver transplantation affect growth pattern in Alagille syndrome? (5/67)
Alagille syndrome (AGS) is frequently associated with growth failure, which has been attributed to concurrent congenital anomalies, cholestasis, and malabsorption and/or malnutrition. However, the underlying cause of the growth failure is not well understood. Our objective is to analyze the growth pattern in 26 patients with AGS and the possible effect that orthotopic liver transplantation (OLT) may have on this pattern. The standardized height, weight, and growth velocity of 26 pair-matched patients with AGS were compared. Thirteen patients underwent OLT. Repeated-measure ANOVA methods were used for the statistical analysis. The overall mean standardized height (z score) was -2.92 in the OLT group versus -1.88 in the non-OLT group (P =.03). The overall mean standardized weight was -1. 21 in the non-OLT group and -1.67 in the OLT group (P =.23). In 15 patients, birth weight was 2.82 +/- 0.4 kg, for a mean standardized weight of -0.95, and weight at diagnosis was 4.53 +/- 2.12 kg, for a mean standardized weight of -1.56. Bone age was delayed in the 9 patients who underwent bone-age analysis. Growth hormone therapy administered to 2 patients did not improve growth. Patients with AGS had growth failure secondary to other factors in addition to liver disease. Growth failure beginning in the prenatal period supports a genetic basis for this feature. Growth improvement up to normal levels should not be expected as a benefit of OLT in these patients. Growth failure as a primary indication for OLT should be cautiously examined in patients with AGS. (+info)Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. (6/67)
Jagged1 (JAG1) is a cell surface ligand in the Notch signaling pathway and mutations in this gene cause Alagille syndrome (AGS). JAG1 mutations have been identified in 60-70% of AGS patients studied, and these include total gene deletions ( approximately 6%), protein-truncating mutations (insertions, deletions and nonsense mutations) (82%) and missense mutations (12%). Based on the finding that total JAG1 deletions cause AGS, haploinsufficiency has been hypothesized to be a mechanism for disease causation; however, the mechanism by which missense mutations cause disease is not understood. To date, 25 unique missense mutations have been observed in AGS patients. Missense mutations are non-randomly distributed across the protein with clusters at the 5' end of the protein, in the conserved DSL domain, and two clusters within the EGF repeats. To understand the effect of the missense mutations on protein localization and function, we have studied four missense mutations (R184H, L37S, P163L and P871R). In two assays of JAG1 function, R184H and L37S are associated with loss of Notch signaling activity relative to wild-type JAG1. Neither R184H or L37S is present on the cell surface and both are abnormally glycosylated. Furthermore, these mutations lead to abnormal accumulation of the protein, possibly in the endoplasmic reticulum. Both P163L and P871R are associated with normal levels of Notch signaling activity and are present on the cell surface, consistent with these changes being polymorphisms rather than disease-causing mutations. (+info)Parental mosaicism of JAG1 mutations in families with Alagille syndrome. (7/67)
The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated. (+info)Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. (8/67)
BACKGROUND AND AIMS: Various opinions have been expressed as to the long term prognosis of liver disease associated with Alagille syndrome (AGS). PATIENTS AND METHODS: We reviewed the outcome of 163 children with AGS and liver involvement, investigated from 1960 to 2000, the end point of the study (median age 10 years (range 2 months to 44 years)) being death, liver transplantation, or the last visit. RESULTS: At the study end point, of the 132 patients who presented with neonatal cholestatic jaundice, 102 remained jaundiced, 112 had poorly controlled pruritus, and 40 had xanthomas; cirrhosis was found in 35/76 livers, varices in 25/71 patients, and liver transplantation had been carried out in 44 patients (33%). Forty eight patients died, 17 related to complications of liver disease. Of 31 patients who did not present with neonatal cholestatic jaundice, five were jaundiced at the study end point, 17 had well controlled pruritus, and none had xanthomas; cirrhosis was found in 6/18 patients, varices in 4/11, and none underwent liver transplantation. Nine patients died, two of liver disease. In the whole series, actuarial survival rates with native liver were 51% and 38% at 10 and 20 years, respectively, and overall survival rates were 68% and 62%, respectively. Neonatal cholestatic jaundice was associated with poorer survival with native liver (p=0.0004). CONCLUSIONS: The prognosis of liver disease in AGS is worse in children who present with neonatal cholestatic jaundice. However, severe liver complications are possible even after late onset of liver disease, demanding follow up throughout life. (+info)Alagille Syndrome is a genetic disorder characterized by the combination of chronic cholestasis, heart defects, skeletal abnormalities, ocular abnormalities, and distinctive facial features, often associated with mutations in the JAG1 gene or NOTCH2 gene.
Alagille syndrome is a genetic disorder that affects the liver, heart, and other parts of the body. It is also known as Arteriohepatic dysplasia or Alagille-Watson syndrome. The main features of this condition include:
1. Liver disease: Most individuals with Alagille syndrome have a liver disorder called bile duct paucity, which means that the small tubes (bile ducts) inside the liver that carry bile to the intestine are narrowed or missing. This can lead to liver scarring and damage over time.
2. Heart defects: About 90% of people with Alagille syndrome have a congenital heart defect, such as pulmonary stenosis (narrowing of the pulmonary valve) or tetralogy of Fallot (a combination of four heart defects).
3. Skeletal abnormalities: Many individuals with Alagille syndrome have distinctive facial features and skeletal changes, such as a broad forehead, wide-set eyes, a pointed chin, and butterfly-shaped vertebrae in the spine.
4. Eye problems: Approximately 90% of people with Alagille syndrome have eye abnormalities, including posterior embryotoxon (a narrowing of the drainage angle of the eye) or retinal changes.
5. Kidney issues: Up to 40% of individuals with Alagille syndrome may experience kidney problems, such as renal dysplasia (abnormal kidney development) or vesicoureteral reflux (backflow of urine from the bladder into the ureters).
6. Other features: Some people with Alagille syndrome may have growth delays, cognitive impairment, or hearing loss.
Alagille syndrome is caused by mutations in one of two genes: JAG1 or NOTCH2. These genes play crucial roles in embryonic development and tissue growth. Inheritance of Alagille syndrome is autosomal dominant, meaning that a person has a 50% chance of inheriting the condition if one parent carries the mutated gene. However, about 30-40% of cases result from new (de novo) mutations and have no family history of the disorder.
Notch2 Receptor is a type I transmembrane protein that functions as a receptor for the Delta and Jagged families of ligands, playing crucial roles in various developmental processes, including cell fate determination, proliferation, differentiation, and apoptosis, through conserved intracellular signaling pathways.
Notch2 is a type of receptor that belongs to the Notch family of single-pass transmembrane proteins. The Notch signaling pathway plays critical roles in various developmental processes, including cell fate determination, differentiation, proliferation, and apoptosis.
The Notch2 receptor is composed of several domains, including an extracellular domain containing multiple epidermal growth factor-like repeats, a transmembrane domain, and an intracellular domain. The extracellular domain of the Notch2 receptor interacts with its ligands, which are expressed on the surface of neighboring cells. This interaction triggers a series of proteolytic cleavage events that release the intracellular domain of the Notch2 receptor into the cytoplasm.
The intracellular domain of the Notch2 receptor then translocates to the nucleus, where it interacts with the DNA-binding protein CSL (CBF1/RBPJkappa in humans) and other cofactors to regulate gene transcription. Dysregulation of the Notch2 signaling pathway has been implicated in various human diseases, including cancer, cardiovascular disease, and neurological disorders.
In humans, pair 20 of chromosomes consists of two homologous chromosomes, each with a length of approximately 55.6 Mb and including specific bands and genetic markers, that carry genetic information essential for human development and inheritance, excluding the sex chromosomes X and Y, which are numbered differently.
Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.
Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.
Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.
Calcium-binding proteins are specialized intracellular proteins that have the ability to bind calcium ions, playing crucial roles in regulating calcium homeostasis, signal transduction, and protection against oxidative stress, among other cellular processes.
Calcium-binding proteins (CaBPs) are a diverse group of proteins that have the ability to bind calcium ions (Ca^2+^) with high affinity and specificity. They play crucial roles in various cellular processes, including signal transduction, muscle contraction, neurotransmitter release, and protection against oxidative stress.
The binding of calcium ions to these proteins induces conformational changes that can either activate or inhibit their functions. Some well-known CaBPs include calmodulin, troponin C, S100 proteins, and parvalbumins. These proteins are essential for maintaining calcium homeostasis within cells and for mediating the effects of calcium as a second messenger in various cellular signaling pathways.
Intercellular signaling peptides and proteins are molecules that mediate communication between cells, facilitating the exchange of information to regulate various cellular processes, including growth, differentiation, and migration, through autocrine, paracrine, or endocrine mechanisms.
Intercellular signaling peptides and proteins are molecules that mediate communication and interaction between different cells in living organisms. They play crucial roles in various biological processes, including cell growth, differentiation, migration, and apoptosis (programmed cell death). These signals can be released into the extracellular space, where they bind to specific receptors on the target cell's surface, triggering intracellular signaling cascades that ultimately lead to a response.
Peptides are short chains of amino acids, while proteins are larger molecules made up of one or more polypeptide chains. Both can function as intercellular signaling molecules by acting as ligands for cell surface receptors or by being cleaved from larger precursor proteins and released into the extracellular space. Examples of intercellular signaling peptides and proteins include growth factors, cytokines, chemokines, hormones, neurotransmitters, and their respective receptors.
These molecules contribute to maintaining homeostasis within an organism by coordinating cellular activities across tissues and organs. Dysregulation of intercellular signaling pathways has been implicated in various diseases, such as cancer, autoimmune disorders, and neurodegenerative conditions. Therefore, understanding the mechanisms underlying intercellular signaling is essential for developing targeted therapies to treat these disorders.
"Facies is a term used in medicine to describe the characteristic appearance of the face that can be indicative of a specific disease, syndrome, or physical condition."
"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.
It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.
Notch receptors are a type of transmembrane receptor involved in cell-cell communication, critical for various developmental processes including cell fate determination, differentiation, proliferation, and apoptosis, through a series of conserved intracellular signaling events upon interaction with their Delta/Serrate/LAG-2 (DSL) ligands.
Notch receptors are a type of transmembrane receptor proteins that play crucial roles in cell-cell communication and regulation of various biological processes, including cell fate determination, differentiation, proliferation, and apoptosis. These receptors are highly conserved across species and are essential for normal development and tissue homeostasis.
The Notch signaling pathway is initiated when the extracellular domain of a Notch receptor on one cell interacts with its ligand (such as Delta or Jagged) on an adjacent cell. This interaction triggers a series of proteolytic cleavage events that release the intracellular domain of the Notch receptor, which then translocates to the nucleus and regulates gene expression by interacting with transcription factors like CSL (CBF1/RBP-Jκ/Su(H)/Lag-1).
There are four known Notch receptors in humans (Notch1-4) that share a similar structure, consisting of an extracellular domain containing multiple epidermal growth factor (EGF)-like repeats, a transmembrane domain, and an intracellular domain. Mutations or dysregulation of the Notch signaling pathway have been implicated in various human diseases, including cancer, cardiovascular disorders, and developmental abnormalities.
A syndrome is a set of symptoms that collectively indicate a specific disease, disorder, or condition, often representing a common pathway or pattern of underlying physiological processes and/or anatomical abnormalities.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Cholestasis is a medical condition characterized by the impaired bile flow from the liver to the intestines, leading to an accumulation of bile components in the liver, which can cause various symptoms and potential liver damage if left untreated.
Cholestasis is a medical condition characterized by the interruption or reduction of bile flow from the liver to the small intestine. Bile is a digestive fluid produced by the liver that helps in the breakdown and absorption of fats. When the flow of bile is blocked or reduced, it can lead to an accumulation of bile components, such as bilirubin, in the blood, which can cause jaundice, itching, and other symptoms.
Cholestasis can be caused by various factors, including liver diseases (such as hepatitis, cirrhosis, or cancer), gallstones, alcohol abuse, certain medications, pregnancy, and genetic disorders. Depending on the underlying cause, cholestasis may be acute or chronic, and it can range from mild to severe in its symptoms and consequences. Treatment for cholestasis typically involves addressing the underlying cause and managing the symptoms with supportive care.
'Membrane Proteins' are protein molecules that are embedded within, or associate with, biological membranes, playing crucial roles in various cellular processes such as transport of molecules, signal transduction, and maintaining cell structure, by serving as channels, receptors, or adhesion molecules.
Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:
1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction
Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:
1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.
Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).
'Bile ducts' are tubular structures that transport bile from the liver and gallbladder into the small intestine, facilitating fat digestion and absorption.
Bile ducts are tubular structures that carry bile from the liver to the gallbladder for storage or directly to the small intestine to aid in digestion. There are two types of bile ducts: intrahepatic and extrahepatic. Intrahepatic bile ducts are located within the liver and drain bile from liver cells, while extrahepatic bile ducts are outside the liver and include the common hepatic duct, cystic duct, and common bile duct. These ducts can become obstructed or inflamed, leading to various medical conditions such as cholestasis, cholecystitis, and gallstones.
Alagille syndrome
"Alagille syndrome". Genetics Home Reference. Retrieved 31 October 2016. Diaz-Frias J, Kondamudi NP (2019). "Alagille Syndrome ... GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome This article incorporates public domain ... "Alagille syndrome". Genetics Home Reference. Retrieved 2016-12-23. "Alagille Syndrome - Diagnosis & Treatment". Boston ... genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome ...
Congenital heart defect
Spinner NB, Gilbert MA, Loomes KM, Krantz ID (20 July 2010). "Alagille Syndrome". In Adam MP, Ardinger HH, Pagon RA, et al. ( ... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ...
Daniel Alagille
Alagille established the initial criteria for diagnosing the syndrome. Alagille served as editor-in-chief of the Revue ... Alagille syndrome is named for him, as he had first described the condition in 1969. He recognized that a number of his ... Alagille died in 2005 following heart surgery. Beighton, Peter; Beighton, Greta (1997). The Person Behind the Syndrome. ... Yucel, H; Hoorntje, S; Bravenboer, B (January 2010). "Renal abnormalities in a family with Alagille syndrome". The Netherlands ...
List of OMIM disorder codes
ATIC Alagille syndrome 2; 610205; NOTCH2 Alagille syndrome; 118450; JAG1 Aland Island eye disease; 300600; CACNA1F Albinism, ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
List of genetic disorders
"Allgrove (AAA) Syndrome". Medscape. Retrieved 15 June 2020. "Orphanet: Alagille syndrome". www.orpha.net. Retrieved 2019-04-16 ... "Orphanet: CEDNIK syndrome". Retrieved 8 May 2021. NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer ... Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome ... October 2018). "17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5". The Journal of Clinical ...
Cholestasis
E.g., with Alagille syndrome limited degeneration occurs, however, there may be a small amount of apoptosis and enlarged ... Alagille syndrome is an autosomal dominant disorder that impacts five systems, including the liver, heart, skeleton, face, and ... Almost all patients with Alagille syndrome have mutations of the genes involved in the Notch signaling pathway. Most have a ... In the case of Alagille syndrome, hepatocyte degeneration is uncommon. However, there may be a small amount of apoptosis and ...
Multisystem developmental disorder
These include: Alagille syndrome, an autosomal dominant disorder with a wide range of features and manifestations. Its five ... 2002). "Craniosynostosis in Alagille syndrome". American Journal of Medical Genetics. 112 (2): 176-80. doi:10.1002/ajmg.10608. ... Turnpenny, PD; Ellard, S (2011). "Alagille syndrome: Pathogenesis, diagnosis and management". European Journal of Human ... Rubinstein-Taybi syndrome, a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to ...
JAG1
GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome JAG1+protein,+human at the U.S. National ... McCright B, Lozier J, Gridley T (2002). "A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 ... Notch signaling Alagille syndrome Autosomal dominant Haploinsufficiency Tetralogy of fallot In situ hybridization Conditional ... Piccoli DA, Spinner NB (2002). "Alagille syndrome and the Jagged1 gene". Semin. Liver Dis. 21 (4): 525-34. doi:10.1055/s-2001- ...
Breast hypertrophy
Zinn, Harry L.; Haller, J. O.; Kedia, Sanjay (1999). "Macromastia in a newborn with Alagille syndrome". Pediatric Radiology. 29 ... Aside from aromatase (as in aromatase excess syndrome), at least two other genetic mutations (one in PTEN) have been implicated ... There is a possible connection between macromastia and carpal-tunnel-syndrome.[better source needed] Insurance companies in the ... Macromastia occurs in approximately half of women with aromatase excess syndrome (a condition of hyperestrogenism). ...
Functional cloning
Rand, Elizabeth B. (1998-02-01). "The Genetic Basis of the Alagille Syndrome". Journal of Pediatric Gastroenterology & ... Molecular genetics of Cohen syndrome Department of Medical Genetics, University of Helsinki (CS1 maint: others, CS1 errors: ...
Optic disc drusen
Alagille syndrome, Down syndrome, Kenny-Caffey syndrome, Leber Hereditary Optic Neuropathy and linear nevus sebaceous syndrome ... Noonan syndrome and Alagille syndrome. Optic disc drusen are not related to Bruch membrane drusen of the retina which have been ... January 1997). "Ocular ultrasound in Alagille syndrome: a new sign". Ophthalmology. 104 (1): 79-85. doi:10.1016/s0161-6420(97) ... ISBN 978-0-07-137831-4. Online Mendelian Inheritance in Man (OMIM): Noonan syndrome - 163950 Nischal KK, Hingorani M, Bentley ...
Stenosis of pulmonary artery
For peripheral pulmonary artery stenosis in Alagille syndrome". Tex Heart Inst J. 25 (1): 79-82. PMC 325508. PMID 9566070. v t ... Costello syndrome, Keutel syndrome, nasodigitoacoustic syndrome (Keipert syndrome), Noonan syndrome or Williams syndrome.[ ... Peripheral pulmonary artery stenosis may occur as an isolated event or in association with Alagille syndrome, Berardinelli-Seip ...
Cholestasis facies
... are a type of facies considered a symptom of Alagille syndrome. However it appears not to be specific but "a ... "Facial features in Alagille syndrome: Specific or cholestasis facies?". American Journal of Medical Genetics. 112 (2): 163-70. ... Is it specific for Alagille syndrome?". The Journal of Pediatrics. 103 (2): 205-8. doi:10.1016/S0022-3476(83)80345-X. PMID ...
Notch 2
GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome Overview of all the structural information ... NOTCH2 is associated with Alagille syndrome and Hajdu-Cheney syndrome. Notch 2 is a member of the notch family. Members of this ... "Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography ... 2011). "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". Nature Genetics. 43 ( ...
Notch proteins
NOTCH2 is associated with Alagille syndrome and Hajdu-Cheney syndrome. Notch signaling pathway Vardar D, North CL, Sanchez- ... "Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography ... "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". Nature Genetics. 43 (4): 303- ...
CUL4B
Jones EA, Clement-Jones M, Wilson DI (2000). "JAGGED1 expression in human embryos: correlation with the Alagille syndrome ... cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central ...
HES1
This phenotype resembles Alagille syndrome, a hallmark of which is mutations in Jagged1. Therefore, Hes-Notch interactions also ...
Manganese
... and high whole blood manganese levels in Alagille's syndrome". Gastroenterology. 106 (4): 1068-71. doi:10.1016/0016-5085(94) ...
RRBP1
... has been excluded as a candidate gene in the cause of Alagille syndrome. GRCh38: Ensembl release 89: ENSG00000125844 - ...
Maralixibat chloride
... is indicated for the treatment of cholestatic pruritus in patients with Alagille syndrome. The U.S. Food ... is a medication used to treat cholestatic pruritus in people with Alagille syndrome. Maralixibat chloride is an ileal bile acid ... as the First and Only Approved Medication for the Treatment of Cholestatic Pruritus in Patients with Alagille Syndrome One Year ... intended for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS). The applicant for this medicinal ...
Progressive familial intrahepatic cholestasis
Alagille syndrome Intrahepatic cholestasis of pregnancy Liver transplantation RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: ...
HEY2
... mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome". Mammalian Genome. 15 (9): ... Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome. HEY2 has been shown to interact ... September 2013). "Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk ...
Odevixibat
The FDA classified odevixibat as an orphan drug for the rare conditions of Alagille syndrome, biliary atresia, and primary ...
Cholangiocyte
... disappearing bile duct syndromes, Alagille's syndrome, cystic fibrosis, and biliary atresia. Often either the best or the only ...
Pulmonary atresia with ventricular septal defect
Some cases of PA(VSD) have been associated with genetic syndromes such as VACTERL association, Alagille syndrome, CHARGE ... also known as 22q11.2 deletion syndrome) are more likely to suffer from the post-surgical complications (especially respiratory ... syndrome, trisomy 13, 18, and 21. While congenital heart defects can't be acquired, they can also be caused by environmental ... Endocarditis Epilepsy Stroke Arrhythmia Heart failure Premature death Children whose PAVSD is caused by DiGeorge syndrome ( ...
Glycosylation
... such as Alagille syndrome. Non-enzymatic acquired alterations: Non-enzymatic disorders, are also acquired, but they are due to ...
Neonatal cholestasis
Metabolic and genetic disorders cause 9-17% of cases, infectious processes cause 1-9% of cases, Alagille syndrome causes 2-6% ... Biliary atresia Choledochal cyst Cholelithiasis Malignancy Alpha-1 antitrypsin deficiency Alagille syndrome Cystic fibrosis ...
Jaundice
... deficiency Pyruvate kinase deficiency ABO/Rh blood type autoantibodies Alpha 1-antitrypsin deficiency Alagille syndrome ( ... Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II Leptospirosis Posthepatic jaundice (obstructive jaundice) is ... genetic conditions such as Gilbert's syndrome, not eating for a prolonged period of time, newborn jaundice, or thyroid problems ... Acute hepatitis Chronic hepatitis Hepatotoxicity Cirrhosis Drug-induced hepatitis Alcoholic liver disease Gilbert's syndrome ( ...
List of MeSH codes (C06)
... zollinger-ellison syndrome MeSH C06.552.150.125 - alagille syndrome MeSH C06.552.150.250 - liver cirrhosis, biliary MeSH ... alagille syndrome MeSH C06.130.120.135.250.250 - liver cirrhosis, biliary MeSH C06.130.120.200 - cholangitis MeSH C06.130. ... gardner syndrome MeSH C06.405.469.578.750 - peutz-jeghers syndrome MeSH C06.405.469.600 - jejunal diseases MeSH C06.405.469.600 ... postgastrectomy syndromes MeSH C06.405.748.630.310 - dumping syndrome MeSH C06.405.748.789 - stomach neoplasms MeSH C06.405. ...
Liver
There are also many pediatric liver diseases, including biliary atresia, alpha-1 antitrypsin deficiency, alagille syndrome, ... Budd-Chiari syndrome is a condition caused by blockage of the hepatic veins (including thrombosis) that drain the liver. It ... "Budd-Chiari syndrome in Sweden: epidemiology, clinical characteristics and survival - an 18-year experience". Liver ...
Alagille syndrome - Wikipedia
"Alagille syndrome". Genetics Home Reference. Retrieved 31 October 2016. Diaz-Frias J, Kondamudi NP (2019). "Alagille Syndrome ... GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome This article incorporates public domain ... "Alagille syndrome". Genetics Home Reference. Retrieved 2016-12-23. "Alagille Syndrome - Diagnosis & Treatment". Boston ... genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome ...
Alagille syndrome: MedlinePlus Genetics
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. Explore symptoms, ... Genetic Testing Registry: Alagille syndrome due to a JAG1 point mutation *Genetic Testing Registry: Alagille syndrome due to a ... mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small ... medlineplus.gov/genetics/condition/alagille-syndrome/ Alagille syndrome. ...
Pediatric Alagille Syndrome
Alagille syndrome is a liver disease that can be mild or severe and may affect the heart, kidneys and more. Explore expert ... Does Alagille syndrome run in families?. Alagille syndrome is genetic, so parents can pass it on to their children. If someone ... What causes Pediatric Alagille Syndrome?. Most cases of Alagille syndrome happen because of a change in a specific gene. ... Does Alagille syndrome require a liver transplant?. Liver disease is common in people with Alagille syndrome. Often this ...
Alagille Syndrome: Practice Essentials, Pathophysiology, Etiology
Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, ... encoded search term (Alagille Syndrome) and Alagille Syndrome What to Read Next on Medscape ... Signs and symptoms of Alagille syndrome. The presentation of Alagille syndrome varies. Clinical features may include the ... have been reported in patients with Alagille syndrome. [4, 5] The syndrome has been mapped to the 20p12-jagged-1 locus, JAG1, ...
Alagille syndrome - American Kidney Fund (AKF)
Alagille syndrome mainly affects your liver but can damage other parts of your body, including your kidneys, heart, brain, eyes ... What is Alagille syndrome?. Alagille syndrome mainly affects your liver but can damage other parts of your body including your ... Alagille syndrome is caused by a buildup of bile in your liver, causing scarring and damage. When your liver is damaged, ... There is no cure for Alagille syndrome, but there are medicines that can help control it by removing bile from your liver. ...
Alagille Syndrome | Children's Liver Disease Foundation
Alagille syndrome is a rare, genetic condition. It can affect different parts of the body including the liver, heart, kidneys, ... How is Alagille syndrome diagnosed?. If your child has some of the features of Alagille syndrome there are a number of tests ... How is Alagille syndrome treated?. There is no cure for Alagille syndrome but there are treatments that can deal with the ... What are the effects of Alagille syndrome?. Although some individuals with Alagille syndrome wont have any issues with their ...
MedlinePlus - Search Results for: Alagille syndrome due to a JAG1 point mutation
Alagille syndrome ... bile ducts Watson-Miller syndrome Genetic Testing Registry: Alagille syndrome due to a JAG1 point ... Results 1 - 1 of 1 for Alagille syndrome due to a JAG1 point mutation ... Did you mean Alagille syndrome due to a rag1 point mutation? *. ... mutation Genetic Testing Registry: Alagille syndrome due to a ...
Tomas' ALGS Story - The Alagille Syndrome Alliance
The studies detected Alagille syndrome!! This was something new for me and my family. Tomas was medicated with 4 medications to ... The Alagille Syndrome Alliance , ALL RIGHTS RESERVED , DESIGNED BY LUXHOJ CONSULTING LLC , oNline Web Fonts ... and enrich the lives of people affected by Alagille Syndrome.". ... de internacion y estudios le destectaron sindrome de alagille ...
DUCT reveals architectural mechanisms contributing to bile duct recovery in a mouse model for Alagille syndrome | eLife
Liver function test overview for patients with Alagille syndrome.. M-ALGS stands for patients with mild Alagille syndrome. S- ... Alagille syndrome human and murine bile ducts end abruptly.. (A) Jag1Ndr/Ndr BDs (right panel) terminated randomly and facing ... clarify the pathogenesis and progression of Alagille syndrome in mouse models of that disease. The new data from Alagille ... Alagille syndrome human and murine de novo generated bile ducts are further from portal veins.. (A) Scheme of BD to PV surface ...
Alagille Syndrome | Riley Children's Health
Alagille syndrome leads to a buildup of bile in the liver, causing liver damage. Riley Hospital for Children at IU Health ... Alagille Syndrome Research Alagille Syndrome Research. The Gastroenterology, Hepatology & Nutrition Department at Riley at IU ... Diagnosis of Alagille Syndrome. If your child has symptoms of Alagille syndrome, a pediatric gastroenterologist will make a ... Alagille syndrome is typically genetic, meaning it is passed from parent to child. A parent with the syndrome has a 50 percent ...
Alagille syndrome - Altmeyers Encyclopedia - Department Dermatology
Rare syndrome with the following symptoms:Chronic cholestasis with pruritus (100% of patients)Typical facies (85%)Hypoplasia or ... Haydu-cheney syndrome; Notch2 gene; Watson-alagille syndrome; Outgoing links (13). Antihistamines, systemic; Clemastine; ... Diseases associated with NOTCH2 include Alagille syndrome 2 and Haydu-Cheney syndrome. ... The prognosis of alagille syndrome, i.e. the syndromal form of biliary hypoplasia, is significantly better than that of other ...
Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome.
"Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome." Urology, vol. 121, Nov. 2018, pp. 171-74. ... Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome.. Publication , Journal Article ... We present a case of Wilms Tumor in a patient with Alagille syndrome 10 months after liver transplant. We explore a suggested ... "Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome." Urology 121 (November 2018): 171-74. https ...
Alagille Syndrome: Background, Pathophysiology, Epidemiology
Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, ... encoded search term (Alagille Syndrome) and Alagille Syndrome What to Read Next on Medscape ... Renal anomalies in Alagille syndrome: A disease-defining feature. Am J Med Genet A. 2011 Nov 21. [QxMD MEDLINE Link]. ... Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997 Jul. 16(3):243-51 ...
Alagille Syndrome Archives - Global Genes
alagille syndrome Archives - Gene Vision
Alagille Syndrome Market Trend Archives - techadda2.com
Alagille Syndrome Market Trend. Alagille Syndrome Market Size, Key Alagille Syndrome Market Players, SWOT, Revenue Growth ... Alagille Syndrome Market Size, Key Alagille Syndrome Market Players, SWOT, Revenue Growth Analysis, 2022-2030 ... The latest and updated research report on the Global Alagille Syndrome Market covers a comprehensive overview of the Alagille ...
Alagille Syndrome - Valley Family Medicine Urgent Care Center
It is feasible that the primary title of the record Alagille Syndrome is not the name you got. ... Alagille Syndrome. Vital. It is feasible that the primary title of the record Alagille Syndrome is not the name you got.. ... Alagille disorder is an unusual hereditary problem that could impact a number of body organ systems of the physical body ... The majority of situations of Alagille disorder take place due to anomalies in one duplicate of the JAG1 genetics. ...
Medical management of Alagille syndrome | Hereditary Ocular Diseases
Natural cure for Alagille Syndrome and alternative treatments
Get natural cures for Alagille Syndrome that can make a difference in your life or the life of someone you love with ... Alagille Syndrome by state. Alagille Syndrome in Alabama. Alagille Syndrome in Alaska. Alagille Syndrome in Arizona. Alagille ... Alagille Syndrome in Iowa. Alagille Syndrome in Kansas. Alagille Syndrome in Kentucky. Alagille Syndrome in Louisiana. Alagille ... Alagille Syndrome in Florida. Alagille Syndrome in Georgia. Alagille Syndrome in Hawaii. Alagille Syndrome in Idaho. Alagille ...
neonatal alagille syndrome - Dr. Allen Cherer | Neonatal Care & Pediatrics
What Is Neonatal Alagille Syndrome?. Neonatal Alagille Syndrome is a type of genetic disorder that children can inherit from ... How Is Neonatal Alagille Syndrome Treated?. Treatment for neonatal alagille syndrome typically relies on what symptoms the ... Alagille syndrome is also referred to as Alagille-Watson syndrome, syndromic bile duct paucity, or arteriohepatic dysplasia. ... What Are the Neonatal Alagille Syndrome Symptoms?. Not all people with neonatal Alagille syndrome have the same symptoms ...
Hepatocarcinoma in a Child With the Alagille Syndrome<...
title = "Hepatocarcinoma in a Child With the Alagille Syndrome",. abstract = "A child with the Alagille syndrome of ... Hepatocarcinoma in a Child With the Alagille Syndrome. Stuart S. Kaufman, R. Patrick Wood, B. W. Shaw, Rodney S. Markin, Bruno ... Hepatocarcinoma in a Child With the Alagille Syndrome. / Kaufman, Stuart S.; Wood, R. Patrick; Shaw, B. W. et al. In: American ... Hepatocarcinoma in a Child With the Alagille Syndrome. In: American Journal of Diseases of Children. 1987 ; Vol. 141, No. 6. pp ...
DailyMed - BYLVAY- odevixibat capsule, coated pellets
Alagille Syndrome (ALGS) *the treatment of cholestatic pruritus in patients 12 months of age and older with Alagille syndrome ( ... Tolerability for Alagille Syndrome (ALGS) Dose reduction to 40 mcg/kg/day (Table 1) may be considered if tolerability issues ... 1.2 Alagille Syndrome (ALGS). BYLVAY is indicated for the treatment of cholestatic pruritus in patients 12 months of age and ... Table 6. Common Adverse Reactions* from a Clinical Study of BYLVAY in Patients with Alagille Syndrome (Trial 3) Adverse ...
Heroes Archive - Rare Disease Day 2023
Alagille syndrome. Frequent visits to doctors and hospitals form many of Shambhvais earliest memories. To her frustration, she ... Turner syndrome As a child, Nitzia attended medical appointments for nine years across four different hospitals before she was ... I was born with Netherton Syndrome which is a form of Ichthyosis. Ichthyosis is an extremely… Continue reading A little insight ... Oakley was diagnosed with Nicolaides-Baraitser Syndrome in October 2019. When I was pregnant with Oakley, we knew we wanted to ...
A drug can cause liver regeneration in Alagille syndrome - Just HealthCare
... demonstrated that a drug can stimulate liver regeneration in Alagille syndrome. ... demonstrated that a drug can stimulate liver regeneration in Alagille syndrome.. Alagille syndrome is caused by a mutation that ... "Alagille syndrome is widely considered an incurable disease, but we believe were on the way to changing that," says Dong, the ... NoRA1 and dealing with Alagille syndrome:. The study was published in the proceedings of the National Academy of Sciences. It ...
Med Journal 360 | International Symposium on Alagille Syndrome remains virtual event in 2021
... according to an announcement on the Alagille Syndrome Alliance website.. The event, titled The Alagille Trail, will be held ... Alagille Syndrome. *. Study finds high prevalence of sarcopenia in children with genetic intrahepatic cholestasis ... International Symposium on Alagille Syndrome remains virtual event in 2021. Posted on ... The 9th International Symposium on Alagille Syndrome will be held virtually this year on the MyCityMed fully integrated ...
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations<...
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. ER Andersson, IV Chivukula, S Hankeova, Marika ... Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. In: Gastroenterology. 2018 ; Vol. 154, No. 4. pp ... Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. / Andersson, ER; Chivukula, IV; Hankeova, S et ... Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations. Gastroenterology. 2018;154(4):1080-1095. doi: ...
Data Bridge Market Research Pvt. Ltd. - press releases - openPR.com
Autoimmune Hepatitis - NIDDK
Albireo Report Enrollment Completion in P-III (ASSERT) Study of Bylvay (odevixibat) for the Treatment of Alagille Syndrome
Use of funded multicenter prospective longitudinal databases to inform clinical trials in rare diseases-Examination of...
Frequency weighting was used to match the age distribution of ITCH and yielded a cohort (Alagille Syndrome Natural History [ ... In this investigation, inclusion and exclusion criteria from a published trial of maralixibat in Alagille syndrome (ALGS, ITCH ... longitudinal databases to inform clinical trials in rare diseases-Examination of cholestatic liver disease in Alagille syndrome ...
Cause Alagille syndromeFeatures of Alagille syndromeProgressive familial inAbnormalitiesMouse model of Alagille syndromePeople with Alagille syndromeManagement of Alagille syndromeMutationsCholestasisBile duct paucityInclude Alagille syndromeArteriohepaticALGSJAG1AutosomalGeneAnomaliesJaundiceGenetic disorderPaucityChildren's HealthTransplantationAlagille'sDisorderAffectsFewer bile ductsPatientsCharacteristicKrantz IDMaralixibatCohortMicrodeletionBabiesCutaneousKidneysOrgansSymptomsDiagnosticChildrenMutationNewbornsTypicallyAdulthoodRenal
Cause Alagille syndrome4
- Mutations in NOTCH2 are much less likely to cause Alagille syndrome, but the primary type of ALGS-causing mutation in NOTCH2 is a missense mutation. (wikipedia.org)
- In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. (medlineplus.gov)
- We have two copies of each gene in our body but only one of the NOTCH2 or JAG1 genes needs to be affected to cause Alagille syndrome. (childliverdisease.org)
- NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (medscape.com)
Features of Alagille syndrome7
- One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. (medlineplus.gov)
- Typical facial features of Alagille syndrome. (medscape.com)
- What are the features of Alagille syndrome? (childliverdisease.org)
- In addition to liver disease, heart problems are one of the most common features of Alagille syndrome. (childliverdisease.org)
- If your child has some of the features of Alagille syndrome there are a number of tests which can be carried out to find out if Alagille syndrome is the cause. (childliverdisease.org)
- Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (medscape.com)
- Here, we review the main features of Alagille syndrome with special focus on oro-facial manifestations like prominent forehead , moderate hypertelorism with deep-set eyes , a saddle or straight nose with a flattened, bulbous tip, and large ears . (bvsalud.org)
Progressive familial in3
- Odevixibat is used to treat pruritus (skin itching) in patients with progressive familial intrahepatic cholestasis (PFIC) and alagille syndrome (ALGS). (drugs.com)
- Appropriate studies have not been performed on the relationship of age to the effects of odevixibat in children younger than 3 months of age with progressive familial intrahepatic cholestasis (PFIC) and in children younger than 12 months of age with alagille syndrome (ALGS) . (drugs.com)
- The Fred and Suzanne Biesecker Pediatric Liver Center at CHOP actively supports basic, clinical and translation liver research, with a focus on biliary atresia, and other developmental liver disorders such as Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC). (chop.edu)
Abnormalities5
- Common signs of Alagille syndrome include congenital heart problems varying from heart murmurs to significant structural abnormalities, such as Tetralogy of Fallot, Pulmonary Stenosis, overriding aorta, ventricular septal defect, and right ventricular hypertrophy are common amongst Alagille patients. (wikipedia.org)
- Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. (medscape.com)
- Ocular abnormalities in Alagille syndrome. (medscape.com)
- Due to a variety of skeletal abnormalities, people with neonatal Alagille syndrome tend to have a very characteristic appearance. (drallencherer.net)
- Other causes of congenital torticollis include spinal abnormalities, such as Klippel-Feil syndrome (fusion of the cervical vertebrae, short neck, and low hairline, often with urinary tract abnormalities) or atlanto-occipital fusion. (msdmanuals.com)
Mouse model of Alagille syndrome1
- The new technique was tested on a mouse model of Alagille syndrome. (elifesciences.org)
People with Alagille syndrome5
- Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. (medlineplus.gov)
- This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy. (medlineplus.gov)
- A few people with Alagille syndrome have mutations in a different gene, called NOTCH2 . (medlineplus.gov)
- An eye condition called posterior embryotoxon can occur in people with Alagille syndrome. (childliverdisease.org)
- More than nine out of ten people with Alagille syndrome have a mutation (change) in a gene called JAG1. (childliverdisease.org)
Management of Alagille syndrome2
- Berniczei-Royko A, Chalas R, Mitura I, Nagy K, Prussak E. Medical and dental management of Alagille syndrome: a review. (medlineplus.gov)
- Medical and dental management of Alagille syndrome: a review. (bvsalud.org)
Mutations4
- Chromosomal analysis for mutations within the JAG1 gene (20p12) confirms the diagnosis of Alagille syndrome. (medscape.com)
- Mutations in either jagged-1 ( JAG1 ) or notch-2 ( NOTCH2 ) have been reported in patients with Alagille syndrome. (medscape.com)
- Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (medscape.com)
- Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (medscape.com)
Cholestasis2
- In this investigation, inclusion and exclusion criteria from a published trial of maralixibat in Alagille syndrome (ALGS, ITCH NCT02057692 ) were applied to a prospective longitudinal cohort of children with cholestasis (LOGIC NCT00571272 ) to derive contextual comparator data for evolving clinical trials of intestinal bile acid transport inhibitors in ALGS. (nih.gov)
- Contrary to healthy children , patients with Alagille syndrome have many problems, depending on several factors like the severity of cholestasis and scarring in the liver , heart or lung problems, presence of infections , or other problems related to poor nutrition that can manifest in their oral cavity in the dental and periodontal tissues , as well as oral mucosa . (bvsalud.org)
Bile duct paucity4
- In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). (medlineplus.gov)
- As proof of principle, we applied DUCT to a mouse model for Alagille syndrome ( Jag1 Ndr/Ndr mice), characterized by intrahepatic bile duct paucity, that can spontaneously generate a biliary system in adulthood. (elifesciences.org)
- Alagille syndrome is also referred to as Alagille-Watson syndrome, syndromic bile duct paucity, or arteriohepatic dysplasia. (drallencherer.net)
- A child with the Alagille syndrome of intrahepatic bile duct paucity developed hepatocarcinoma. (nebraska.edu)
Include Alagille syndrome1
- Diseases associated with NOTCH2 include Alagille syndrome 2 and Haydu-Cheney syndrome . (altmeyers.org)
Arteriohepatic1
- The Alagille syndrome (arteriohepatic dysplasia). (nih.gov)
ALGS4
- Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. (wikipedia.org)
- While these distinct facial features are often presented in ALGS patients, the features are presumably not due to Alagille syndrome, but they are characteristic of patients with intrahepatic cholestatic liver disease. (wikipedia.org)
- the treatment of cholestatic pruritus in patients 12 months of age and older with Alagille syndrome (ALGS). (nih.gov)
- Frequency weighting was used to match the age distribution of ITCH and yielded a cohort (Alagille Syndrome Natural History [ALGS NH]) that was very similar to the baseline status of ITCH participants. (nih.gov)
JAG13
- Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. (medlineplus.gov)
- [ 4 , 5 ] The syndrome has been mapped to the 20p12-jagged-1 locus, JAG1 , which encodes a ligand critical to the notch gene-signaling cascade that is important in fetal development. (medscape.com)
- The majority of situations of Alagille disorder take place due to anomalies in one duplicate of the JAG1 genetics. (valleyfamilymedicineurgentcarecenter.com)
Autosomal4
- The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. (wikipedia.org)
- Alagille syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. (wikipedia.org)
- Alagille syndrome is an autosomal dominant disorder with variable expression. (medscape.com)
- Alagille syndrome is a rare, autosomal, complex, dominant disorder associated with dysfunction of the liver , heart , skeleton , and eyes , as well as characteristic facial appearance. (bvsalud.org)
Gene5
- Most cases of Alagille syndrome happen because of a change in a specific gene. (childrens.com)
- In four out of ten cases, the gene which causes Alagille syndrome has been passed down from a parent to their child. (childliverdisease.org)
- A parent with the syndrome has a 50 percent chance of passing the abnormal gene that causes the condition to each child. (rileychildrens.org)
- A blood test will show if the parent/s and the child carries the Alagille gene. (rileychildrens.org)
- People with neonatal Alagille syndrome have a mutated or missing copy of a gene labeled Jagged1 on chromosome 20. (drallencherer.net)
Anomalies5
- These anomalies can be beneficial in diagnosing Alagille syndrome. (wikipedia.org)
- Renal anomalies in Alagille syndrome: A disease-defining feature. (medscape.com)
- Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. (medscape.com)
- Vertebral anomalies can be singular or part of a syndrome. (msdmanuals.com)
- Some syndromes or associations such as VACTERL ( v ertebral anomalies, a nal atresia, c ardiac malformations, t racheo e sophageal fistula, r enal anomalies and r adial aplasia, and l imb anomalies) include vertebral defects. (msdmanuals.com)
Jaundice6
- citation needed] Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching (pruritus), pale stools (acholia), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (xanthomas). (wikipedia.org)
- Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas). (medlineplus.gov)
- Many children with Alagille syndrome show jaundice and other signs of liver disease in the early months after being born. (childrens.com)
- A child who is born with Alagille syndrome will experience jaundice (yellowing of the skin and whites of the eyes), pale, loose stool and failure to thrive . (rileychildrens.org)
- Doctors will do further blood tests on babies who have jaundice and some or all of the other common symptoms of Alagille syndrome. (rileychildrens.org)
- Alagille syndrome manifests with butterfly vertebrae, jaundice due to hypoplastic bile ducts, and congenital heart defects. (msdmanuals.com)
Genetic disorder3
- Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. (medlineplus.gov)
- Alagille syndrome is a genetic disorder that usually affects the development and function of the liver. (childrens.com)
- Neonatal Alagille Syndrome is a type of genetic disorder that children can inherit from their parents. (drallencherer.net)
Paucity1
- Alagille D (1988) Paucity of Interlobular Bile Ducts. (altmeyers.org)
Children's Health1
- At Children's Health℠, kids with Alagille syndrome are seen by liver, heart, kidney and other experts who address all their health needs as one team so they can grow up healthy and happy. (childrens.com)
Transplantation2
- Living-related liver transplantation for Alagille syndrome. (medscape.com)
- Orthotopic liver transplantation for children with Alagille syndrome. (medscape.com)
Alagille's2
- citation needed] Other presentations of Alagille's syndrome include butterfly vertebrae, ophthalmic defects, and distinct facial structures. (wikipedia.org)
- A liver biopsy means we study a small sample of liver tissue, which can have certain characteristics that indicate Alagille's syndrome. (childrens.com)
Disorder1
- Alagille disorder is an unusual hereditary problem that could impact a number of body organ systems of the physical body consisting of the liver, heart, skeletal system, kidneys and also eyes. (valleyfamilymedicineurgentcarecenter.com)
Affects4
- Alagille syndrome mainly affects your liver but can damage other parts of your body including your kidneys, heart, brain, eyes and skeleton. (kidneyfund.org)
- Alagille syndrome affects around one in every 30,000 live births. (childliverdisease.org)
- Pancreatic insufficiency affects about one-third of children with Alagille syndrome. (rileychildrens.org)
- Alagille syndrome is a disease that affects the heart, liver and other major organs of the body. (naturalcurefor.com)
Fewer bile ducts1
- Individuals with Alagille syndrome may have fewer bile ducts than normal. (childliverdisease.org)
Patients6
- However, complete surgical repair can significantly improve both longevity and quality of life in patients with Alagille syndrome. (wikipedia.org)
- [ 2 ] Then in 1975, Alagille et al described several patients with hypoplasia of the hepatic ducts with associated features. (medscape.com)
- All this can improve quality of life in patients with Alagille syndrome . (bvsalud.org)
- Research in the lab and at the bedside offer new hope for young patients with biliary atresia, Alagille syndrome and other chronic liver disorders. (chop.edu)
- Our multidisciplinary program diagnoses, educates and treats patients with connective tissue disorders such as Marfan, Williams and Loeys-Dietz syndromes. (stanfordchildrens.org)
- Subsequently, numerous phenotypically similar non-Amish patients were reported, and the term Byler syndrome was used to describe these patients' condition. (medscape.com)
Characteristic1
- Alagille D et al (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. (altmeyers.org)
Krantz ID1
- Krantz ID et al (2002) Alagille syndrome: chipping away at the tip of the iceberg. (altmeyers.org)
Maralixibat1
- Maralixibat is currently approved for Alagille syndrome. (medpagetoday.com)
Cohort1
- Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. (medscape.com)
Microdeletion1
- Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. (medscape.com)
Babies2
- For example, babies with Alagille syndrome are born with few or no bile ducts, resulting in serious liver disease. (elifesciences.org)
- Children with Alagille syndrome have striking deficiencies in vitamins A, D, E and K and require supplementation of these vitamins, sometimes in doses that are 20 times what normal babies require. (rileychildrens.org)
Cutaneous1
- Garcia MA et al (2005) Alagille syndrome: cutaneous manifestations in 38 children. (altmeyers.org)
Kidneys1
- If we know or suspect your child has Alagille syndrome, we do additional tests to check on their liver, kidneys, heart and other organs that are often affected by the disease. (childrens.com)
Organs3
- Alagille syndrome can affect multiple organs in the body. (childrens.com)
- Alagille syndrome can affect other organs too. (childrens.com)
- Sometimes Alagille syndrome doesn't do any harm to other organs, but sometimes it can have a serious effect. (childrens.com)
Symptoms6
- Because the variety of potential symptoms and health impacts is so wide, children with Alagille syndrome should receive care from a multidisciplinary team, who can care for their full range of needs. (childrens.com)
- What are the signs and symptoms of Pediatric Alagille Syndrome? (childrens.com)
- It differs from person to person and even two people in the same family with Alagille syndrome can have different features and symptoms. (childliverdisease.org)
- What Are the Neonatal Alagille Syndrome Symptoms? (drallencherer.net)
- Not all people with neonatal Alagille syndrome have the same symptoms present. (drallencherer.net)
- Treatment for neonatal alagille syndrome typically relies on what symptoms the patient is presenting. (drallencherer.net)
Diagnostic1
- We also discuss the diagnostic and therapeutic challenges that can arise in a liver transplant patient with Alagille syndrome who subsequently develops a renal mass. (duke.edu)
Children14
- Children and adults with Alagille syndrome often share physical features including a prominent forehead, deep-set eyes and a small chin. (childliverdisease.org)
- These features do not make children look abnormal, they are simply common across those with Alagille syndrome. (childliverdisease.org)
- Understanding the architecture of the tubes in their livers could explain why some children with this syndrome improve with time, but many others need a liver transplant. (elifesciences.org)
- Children with this syndrome will typically experience a progressive loss of the bile ducts inside the liver and a narrowing of the bile ducts outside the liver within the first year of life. (rileychildrens.org)
- Children with this syndrome are often shorter than their peers, even when they receive adequate nutrition. (rileychildrens.org)
- Children with Alagille syndrome typically have deep, wide-set eyes, a round forehead and a pointed chin, though this may not be apparent until later in life. (rileychildrens.org)
- Children with Alagille syndrome may have kidney cysts or a mild form of a kidney condition called kidney tubular acidosis. (rileychildrens.org)
- The spinal bones of children with Alagille syndrome may be shaped as the wings of a butterfly. (rileychildrens.org)
- A certain type of fat called medium-chain triglycerides (MCT) is absorbed well in children with Alagille syndrome. (rileychildrens.org)
- Lykavieris P et al (2003) Bleeding tendency in children with Alagille syndrome. (altmeyers.org)
- In children with Wilms Tumor, we propose a pathoembryologic explanation for not just the tumor, but also for the cause of associated benign ureteral and renal parenchymal aberrancies that are commonly seen in the Alagille population. (duke.edu)
- Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. (medscape.com)
- Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome. (medscape.com)
- Many children have mild enough Alagille syndrome that they just need to eat a healthy diet and get plenty of rest to help with issues like delayed puberty or failure to thrive. (drallencherer.net)
Mutation2
- Did you mean Alagille syndrome due to a rag1 point mutation ? (nih.gov)
- Alagille syndrome is caused by a mutation that prevents the formation and regeneration of bile ducts in the liver. (justcarehealth.com)
Newborns2
- The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. (medlineplus.gov)
- Roughly 1 out of 70,000 newborns is born with neonatal Alagille syndrome. (drallencherer.net)
Typically1
- Alagille syndrome is typically genetic, meaning it is passed from parent to child. (rileychildrens.org)
Adulthood1
- Some people have a very mild form of the condition and reach adulthood without knowing they have Alagille syndrome. (childliverdisease.org)
Renal1
- Renal involvement and the role of Notch signalling in Alagille syndrome. (medscape.com)
