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).
A notch receptor that plays an important role in CELL DIFFERENTIATION in a variety of cell types. It is the preferentially expressed notch receptor in mature B-LYMPHOCYTES.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Proteins to which calcium ions are bound. They can act as transport proteins, regulator proteins, or activator proteins. They typically contain EF HAND MOTIFS.
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.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
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.
A characteristic symptom complex.
Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS).
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
The channels that collect and transport the bile secretion from the BILE CANALICULI, the smallest branch of the BILIARY TRACT in the LIVER, through the bile ductules, the bile ducts out the liver, and to the GALLBLADDER for storage.

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)

The primary features of Alagille syndrome include:

1. Liver problems: The liver is enlarged and may have nodules or cysts. This can lead to liver failure and the need for transplantation.
2. Heart defects: About 75% of individuals with Alagille syndrome have heart defects, such as ventricular septal defect (VSD) or atrial septal defect (ASD).
3. Intestinal involvement: The intestines may be narrowed or blocked, leading to abdominal pain, vomiting, and constipation.
4. Kidney problems: Alagille syndrome can cause kidney disease, including cysts and inflammation.
5. Feeding and growth difficulties: Children with Alagille syndrome may have difficulty gaining weight and growing at a normal rate due to malabsorption of nutrients.
6. Distinctive facial features: Individuals with Alagille syndrome may have distinctive facial features, such as a small head, narrow eyes, and a prominent forehead.
7. Skeletal abnormalities: Some individuals with Alagille syndrome may have skeletal abnormalities, such as short stature or clubfoot.
8. Neurological problems: Alagille syndrome can cause neurological symptoms, such as seizures, developmental delay, and learning disabilities.

There is no cure for Alagille syndrome, but treatment is focused on managing the individual symptoms. Liver transplantation may be necessary in some cases. With proper management, many individuals with Alagille syndrome can lead active and fulfilling lives.

Here are some examples of how the term "facies" may be used in a medical context:

1. Facial asymmetry: A patient with facial asymmetry may have one side of their face that is noticeably different from the other, either due to a birth defect or as a result of trauma or surgery.
2. Facial dysmorphia: This is a condition in which a person has a distorted perception of their own facial appearance, leading them to seek repeated cosmetic procedures or to feel self-conscious about their face.
3. Facies of a particular syndrome: Certain medical conditions, such as Down syndrome or Turner syndrome, can have distinctive facial features that are used to help diagnose the condition.
4. Facial trauma: A patient who has suffered an injury to their face may have a facies that is disrupted or misshapen as a result of the trauma.
5. Facial aging: As people age, their facial features can change in predictable ways, such as sagging of the skin, deepening of wrinkles, and loss of fat volume. A doctor might use the term "facies" to describe these changes and plan appropriate treatments, such as a facelift or dermal fillers.

In general, the term "facies" is used by healthcare professionals to describe any aspect of a patient's facial appearance that may be relevant to their diagnosis or treatment. It is a useful way to communicate information about a patient's face in a precise and objective manner.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

There are several types of cholestasis, including:

1. Obstructive cholestasis: This occurs when there is a blockage in the bile ducts, preventing bile from flowing freely from the liver.
2. Metabolic cholestasis: This is caused by a problem with the metabolism of bile acids in the liver.
3. Inflammatory cholestasis: This occurs when there is inflammation in the liver, which can cause scarring and impair bile flow.
4. Idiopathic cholestasis: This type of cholestasis has no identifiable cause.

Treatment for cholestasis depends on the underlying cause, but may include medications to improve bile flow, dissolve gallstones, or reduce inflammation. In severe cases, a liver transplant may be necessary. Early diagnosis and treatment can help to manage symptoms and prevent complications of cholestasis.

"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 ...
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 ... Ebstein's anomaly Early Repolarization Syndrome Hypoplastic left heart syndrome (HLHS) Hypoplastic right heart syndrome (HRHS) ...
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 ...
"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 ...
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 ...
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: MedlinePlus Genetics". Melekos, M; Barbalias, G; Asbach, HW (1987). "Rubinstein-Taybi syndrome". ...
GeneReviews/NCBI/UW/NIH entry on Alagille syndrome OMIM entries on Alagille syndrome JAG1+protein,+human at the US 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- ...
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). ...
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: ...
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 ...
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 ...
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 ...
... 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 ...
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 ( ...
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- ...
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 ...
This phenotype resembles Alagille syndrome, a hallmark of which is mutations in Jagged1. Therefore, Hes-Notch interactions also ...
... and high whole blood manganese levels in Alagille's syndrome". Gastroenterology. 106 (4): 1068-71. doi:10.1016/0016-5085(94) ...
... has been excluded as a candidate gene in the cause of Alagille syndrome. GRCh38: Ensembl release 89: ENSG00000125844 - ...
Alagille syndrome Intrahepatic cholestasis of pregnancy Liver transplantation RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: ...
... 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 ...
... 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 ... With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS) (ICONIC)" at ClinicalTrials.gov Portal: Medicine v ...
... disappearing bile duct syndromes, Alagille's syndrome, cystic fibrosis, and biliary atresia. Often either the best or the only ...
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 ( ...
... such as Alagille syndrome. Non-enzymatic acquired alterations: Non-enzymatic disorders, are also acquired, but they are due to ...
Intrahepatic bile duct atresia (Alagille syndrome) (ALGS2 MIM:610205 and ALGS1 MIM:118450) Extrahepatic bile duct atresia ... Vanishing bile duct syndrome is a loose collection of diseases which leads to the injury to hepatic bile ducts and eventual ... Rossini, M. S.; Lorand-Metze, I; Oliveira, G. B.; Souza, C. A. (2000). "Vanishing bile duct syndrome in Hodgkin's disease: Case ... Uptodate:Hepatic ductopenia and vanishing bile duct syndrome (Articles needing additional medical references from March 2022, ...
... 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 ( ...
... 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. ...
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 ...
MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ... branchio-oto-renal syndrome MeSH C16.320.180.190 - cri du chat syndrome MeSH C16.320.180.210 - De Lange syndrome MeSH C16.320. ... branchio-oto-renal syndrome MeSH C16.131.077.250 - Cockayne syndrome MeSH C16.131.077.262 - cri du chat syndrome MeSH C16.131. ...
... syndrome Afferent loop syndrome Aicardi syndrome Aicardi-Goutières syndrome AIDS dysmorphic syndrome Al-Raqad syndrome Alagille ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Tamagnan G, Alagille D, Fu X, Kula NS, Baldessarini RJ, Innis RB, Baldwin RM (February 2005). "Synthesis and monoamine ... promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome ...
... syndrome Rotor syndrome Drugs Total parenteral nutrition Idiopathic Biliary atresia or bile duct obstruction Alagille syndrome ... Alagille syndrome, alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for ... Bronze baby syndrome (dark pigmentation of skin). The primary symptom is yellowish discoloration of the white part of the eyes ... jaundice Cephalohematoma Polycythemia Urinary tract infection Sepsis Hypothyroidism Gilbert's syndrome Crigler-Najjar syndrome ...
... syndrome Al Gazali Hirschsprung syndrome Al Gazali Khidr Prem Chandran syndrome Al Gazali Sabrinathan Nair syndrome Alagille- ... Pande syndrome Aarskog syndrome Aase-Smith syndrome Aase syndrome Abasia ABCD syndrome Abdallat-Davis-Farrage syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
Primary Biliary Cirrhosis page from the National Digestive Diseases Information Clearinghouse Alagille syndrome (Articles with ... For example, it may identify a previously unsuspected variant syndrome, steatohepatitis, or interface hepatitis of moderate or ... Reuben A (January 2003). "The serology of the Addison-Gull syndrome". Hepatology. 37 (1): 225-228. doi:10.1002/hep.510370134. ... Common associations include Sjögren's syndrome, systemic sclerosis, rheumatoid arthritis, lupus, hypothyroidism, and coeliac ...
Ala Alagille syndrome Albino Alcoholism Alkylating agent Allele Allele frequency Alleles Allopolyploid Allosteric protein ... Junk DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype Kilobase Kin selection Kinetochore Klinefelter syndrome ... tumor Wobble Wolfram syndrome X chromosome X hyperactivation X linkage X linked X-and-Y linkage X-inactivation X:A ratio ... Leader transcript Leading strand Leaky mutant Lesion Lethal gene Leu Leucine zipper Leukemia Li-Fraumeni syndrome Library ( ...
Describes Alagille syndrome, a rare, inherited disorder that affects the liver. Covers the causes, symptoms, diagnosis, ... Alagille Syndrome. View or Print All Sections Definition & Facts Alagille syndrome is a genetic disorder that may affect many ... The most common signs and symptoms of Alagille syndrome are related to the liver. Alagille syndrome may also affect other parts ... A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. As bile builds up in the ...
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. ...
Executive Summary of Alagille Syndrome3. Competitive Intelligence Analysis for Alagille Syndrome. 4. Alagille Syndrome: Market ... Alagille Syndrome: Seven Major Market Analysis. 13.1. Key Findings. 13.2. Alagille Syndrome Market Size in 7MM. 13.3. Alagille ... The total Alagille Syndrome market size and market size by therapies in Japan is also mentioned.. Alagille Syndrome Drugs ... 15.1.1. Alagille Syndrome Total Market Size in the United States. 15.1.2. Alagille Syndrome Market Size by Therapies in the ...
Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in ,i,JAG1,/i, or ,i,NOTCH2,/i,, which ... Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment Taisa J Kohut 1 , Melissa A Gilbert 2 , ... Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment Taisa J Kohut et al. Semin Liver Dis. 2021 ... Alagille Syndrome. Mitchell E, Gilbert M, Loomes KM. Mitchell E, et al. Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j. ...
Background: Alagille syndrome is a rare genetic disease that often presents with severe cholestasis and pruritus. There are no ... Apical sodium-dependent bile acid transporter inhibition in children with Alagille syndrome. Kriegermeier A, Taylor S. ... Maralixibat Treatment Response in Alagille Syndrome is Associated with Improved Health-Related Quality of Life. Kamath BM, ... Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome. Shneider BL, ...
The patient is a fifteen-month-old, 9kg girl with Alagille syndrome and liver dysfunction who presented with suprasystemic ... Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease. J Pediatr. 2021 Feb;229:86-94.e4 ... Surgical reconstruction of peripheral pulmonary artery stenosis in Williams and Alagille syndromes. J Thorac Cardiovasc Surg. ...
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 ...
... from Alagille syndrome (ALGS). MATERIALS AND METHODS:. This study included 32 infants with BA and 12 infants with ALGS groups ... Síndrome de Alagille/diagnóstico; Atresia Biliar/diagnóstico; Imagem de Tensor de Difusão/métodos; Síndrome de Alagille/ ... of Diffusion Tensor Imaging Parameters of Hepatic Parenchyma for Differentiation of Biliary Atresia from Alagille Syndrome. ... Síndrome de Alagille / Imagem de Tensor de Difusão Tipo de estudo: Estudo diagnóstico / Estudo observacional / Estudo ...
This included 43 patients with Williams syndrome, 39 with Alagille syndrome, and 21 with elastin arteriopathy. Other diagnoses ... Underlying diagnoses included Williams syndrome (n=44), Alagille syndrome (n=43), elastin arteriopathy (n=21), tetralogy of ... is a relatively rare form of congenital heart disease often associated with Williams syndrome, Alagille syndrome, and elastin ... Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease. The Journal of pediatrics Luong, R. n., ...
CLINICAL AND GENETIC CHARACTERISTICS OF CHILDREN WITH ALAGILLE SYNDROME IN CHILDRENS HOSPITAL NO. 1 Nguyen Viet Truong1, Ta ... Alagille syndrome and a JAG1 mutation: 41 cases. of experience at a single center. Korean Journal of. Pediatrics, 58(10), 392- ... patients with Alagille syndrome. Journal of. applied Genetics, 55(3), 329-336.. 9. Krantz ID, Colliton RP, Genin A, et al (1998 ... predominantly sporadic in Alagille syndrome.. Gastroenterology, 115(5), 1141-8.. 6. Emerick KM, Rand EB, Goldmuntz E, et al ( ...
Alagille syndrome; alpha-1-antitrypsin deficiency; Progressive Familial Intrahepatic Cholestasis syndromes; Bile acid synthesis ... Alagille syndrome; alpha-1-antitrypsin deficiency; Progressive Familial Intrahepatic Cholestasis syndromes; Bile acid synthesis ...
Liver Transplantation in a Child With Severe Hypercholesterolaemia in Alagille Syndrome. S C Quek, M Aw, S H Quak, K ... Alagille syndrome (AS) or arteriohepatic dysplasia is a genetic disorder transmitted in an autosomal dominant inheritance. The ... Clinical Report: A Case of Williams Syndrome and Klinefelter Syndrome. Le Ye Lee, Swee Chye Quek, Samuel S Chong, Arnold SC Tan ... Minimal change nephrotic syndrome (MCNS) is the most common cause of childhood nephrotic syndrome. It is characterised by the ...
Congenital heart defects and syndromes. *Alagille syndrome. *Chromosome abnormalities and microdeletions. *Heterotaxy syndrome ...
Alagille Syndrome (23) * Aortic Coarctation (63) * Arrhythmogenic Right Ventricular Dysplasia (26) * Barth Syndrome (31) ...
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome K Vrijens, S Thys, MT De Jeu, AA Postnov, M ...
Alagille Syndrome C16.131.240.400.44. C16.320.51. Alamethicin D12.644.504.111. Alcuronium D3.132.436.255.712.50 D3.132.98.833. ... Shy-Drager Syndrome C14.907.514.482.853 C14.907.514.741. Sick Sinus Syndrome C14.280.67.829 C14.280.67.93.249. C14.280.67.558. ... Sturge-Weber Syndrome C4.700.852. C16.320.700.852. Subclavian Steal Syndrome C14.907.253.92.956.700. Substantia Innominata ... Williams Syndrome C14.280.484.150.60.960 C14.280.484.150.535.960. Wolff-Parkinson-White Syndrome C16.131.240.400.980. Wolffian ...
Giant hepatic regenerative nodules in Alagille syndrome.. Rapp JB; Bellah RD; Maya C; Pawel BR; Anupindi SA. Pediatr Radiol; ...
Odevixibat is also in clinical development for the treatment of other cholestatic diseases, including Alagille syndrome and ...
An anonymous donor donated a portion of their liver to three-year-old Binh, who has Alagille syndrome. The donation surgery was ...
Maralixibat is used to treat itching caused by Alagille syndrome (ALGS, an inherited condition in which bile ... and children 1 ...
Alagille Syndrome see Liver Diseases (32). *Alaska Native Health see Native-American Health (4) ...
Alagille Syndrome 1 Alagille Syndrome 2 Alagille Watson Syndrome Alagilles Syndrome Alagille-Watson Syndrome Arteriohepatic ... Alagille Syndrome 2 Narrower Concept UI. M0503819. Terms. Alagille Syndrome 2 Preferred Term Term UI T685804. Date11/09/2006. ... Alagille Syndrome 1 Narrower Concept UI. M0503818. Terms. Alagille Syndrome 1 Preferred Term Term UI T685803. Date11/09/2006. ... Watson Alagille Syndrome Watson Miller Syndrome Watson-Miller syndrome Previous Indexing. Abnormalities, Multiple (1981-1991). ...
Alagille syndrome. * cleidocranial dystostosis. * Dyggve - Melchior - Clausen syndrome. * fibrous dysplasia. * hereditary ...
Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to ...
... reshapes the biliary tree in Alagille syndrome October 10, 2019. October 10, 2019. Alagille syndrome, bile, bile tree, ... Alagille syndrome is a rare pediatric genetic disorder that can affect the liver, heart, kidneys, blood vessels, skeleton and ...
... such as occurs in spondylocostal dysostosis and Alagille syndrome (Shifley and Cole, 2007; Turnpenny, 2008). ...
Alagille Syndrome Gene Panel, Varies Mayo Clinic Laboratories in Rochester ALB24 Albumin, 24 Hour, Urine Mayo Clinic ...
Alagille Syndrome. A genetic disorder, Alagille Syndrome has the potential to affect the heart, liver and other organs. It ...
  • Alagille syndrome (ALGS) is an autosomal dominant disorder caused by pathogenic variants in JAG1 or NOTCH2 , which encode fundamental components of the Notch signaling pathway. (nih.gov)
  • the treatment of cholestatic pruritus in patients 12 months of age and older with Alagille syndrome (ALGS). (nih.gov)
  • Maralixibat is another IBATi that gained approval for cholestatic pruritus in adults and children aged 1 year and older with Alagille syndrome. (medscape.com)
  • Doctors may refer people with Alagille syndrome to doctors who specialize in the liver, heart, blood vessels, or kidneys to treat the disease. (nih.gov)
  • 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)
  • Assessment of Diffusion Tensor Imaging Parameters of Hepatic Parenchyma for Differentiation of Biliary Atresia from Alagille Syndrome. (bvsalud.org)
  • Odevixibat is also in clinical development for the treatment of other cholestatic diseases, including Alagille syndrome and biliary atresia. (medscape.com)
  • NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the Notch signaling pathway. (tcnhikhoa.vn)
  • Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). (nih.gov)
  • El síndrome de Alagille puede ser consecuencia de mutaciones génicas heterogéneas, que incluyen mutaciones en JAG1 en el CROMOSOMA 20 (Tipo 1) y NOTCH2 en el CROMOSOMA 1 (Tipo 2). (bvsalud.org)
  • Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. (tcnhikhoa.vn)
  • In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. (medlineplus.gov)
  • Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. (medlineplus.gov)
  • Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center. (tcnhikhoa.vn)
  • Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. (tcnhikhoa.vn)
  • Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (tcnhikhoa.vn)
  • Gene mutations cause Alagille syndrome. (nih.gov)
  • Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. (tcnhikhoa.vn)
  • Mutations that alter the jagged 1 protein cause Alagille syndrome. (nih.gov)
  • Introduction: Alagille syndrome is an autosomal dominant disorder that aff ects many various organs. (tcnhikhoa.vn)
  • Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al. (nih.gov)
  • Alagille syndrome is a genetic disorder that may affect many different parts of the body, including the liver. (nih.gov)
  • Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. (medlineplus.gov)
  • Alagille syndrome is a rare pediatric genetic disorder that can affect the liver, heart, kidneys, blood vessels, skeleton and other tissues. (bcm.edu)
  • A genetic disorder, Alagille Syndrome has the potential to affect the heart, liver and other organs. (relainstitute.com)
  • In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). (medlineplus.gov)
  • 10. Giant hepatic regenerative nodules in Alagille syndrome. (nih.gov)
  • 2018). Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis. (tcnhikhoa.vn)
  • Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. (medlineplus.gov)
  • Surgical reconstruction of peripheral pulmonary artery stenosis in Williams and Alagille syndromes. (figshare.com)
  • The patient is a fifteen-month-old, 9kg girl with Alagille syndrome and liver dysfunction who presented with suprasystemic right ventricular pressure due to severe bilateral branch pulmonary arterial stenoses. (figshare.com)
  • Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease. (figshare.com)
  • Williams Syndrome: Supravalvar Aortic, Aortic Arch, Coronary and Pulmonary Arteries: Is Comprehensive Repair Advisable and Achievable? (stanfordchildrens.org)
  • 1999). Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (tcnhikhoa.vn)
  • The Alagille Syndrome market report gives a thorough understanding of the Alagille Syndrome by including details such as disease definition, symptoms, causes, pathophysiology, diagnosis and treatment. (researchandmarkets.com)
  • The disease epidemiology covered in the report provides historical as well as forecasted Alagille Syndrome epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2019 to 2032. (researchandmarkets.com)
  • Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. (nih.gov)
  • Approval was based on the ICONIC study and 5 years of data from supportive studies in 86 patients with Alagille syndrome. (medscape.com)
  • Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. (tcnhikhoa.vn)
  • One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. (medlineplus.gov)
  • Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. (tcnhikhoa.vn)
  • Alagille syndrome: pathogenesis, diagnosis and management. (tcnhikhoa.vn)
  • Children with Clinical Features of Alagille Syndrome. (tcnhikhoa.vn)
  • Doctors treat the symptoms and complications of Alagille syndrome with medicines and in some cases surgery. (nih.gov)
  • The most common signs and symptoms of Alagille syndrome are related to the liver. (nih.gov)
  • Doctors diagnose Alagille syndrome based on signs and symptoms, medical and family history, a physical exam, an eye exam, and medical tests, which may include blood tests, imaging tests, and a liver biopsy. (nih.gov)
  • 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)
  • Getting enough nutrients is important for people who have Alagille syndrome, especially for infants and children. (nih.gov)
  • A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. (nih.gov)
  • This segment of the report covers the detailed diagnostic methods or tests for Alagille Syndrome. (researchandmarkets.com)
  • The Alagille Syndrome market report provides current treatment practices, emerging drugs, Alagille Syndrome market share of the individual therapies, current and forecasted Alagille Syndrome market Size from 2019 to 2032 segmented by seven major markets. (researchandmarkets.com)
  • The Report also covers current Alagille Syndrome treatment practice/algorithm, market drivers, market barriers and unmet medical needs to curate best of the opportunities and assesses the underlying potential of the market. (researchandmarkets.com)
  • It covers the details of conventional and current medical therapies available in the Alagille Syndrome market for the treatment of the condition. (researchandmarkets.com)
  • It also provides Alagille Syndrome treatment algorithms and guidelines in the United States, Europe, and Japan. (researchandmarkets.com)
  • The report provides the details of the marketed product available for Alagille Syndrome treatment. (researchandmarkets.com)
  • The report provides the details of the emerging therapies under the late and mid-stage of development for Alagille Syndrome treatment. (researchandmarkets.com)
  • Berniczei-Royko A, Chalas R, Mitura I, Nagy K, Prussak E. Medical and dental management of Alagille syndrome: a review. (medlineplus.gov)
  • The epidemiology segment also provides the Alagille Syndrome epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. (researchandmarkets.com)
  • Results: Thirty two children diagnosed with Alagille syndrome were studied. (tcnhikhoa.vn)
  • Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). (medlineplus.gov)