Alagille Syndrome
Receptor, Notch2
Chromosomes, Human, Pair 20
Calcium-Binding Proteins
Intercellular Signaling Peptides and Proteins
Facies
Receptors, Notch
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)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
Congenital heart defect
List of OMIM disorder codes
List of genetic disorders
Cholestasis
Multisystem developmental disorder
JAG1
Breast hypertrophy
Functional cloning
Optic disc drusen
Daniel Alagille
Stenosis of pulmonary artery
Cholestasis facies
Notch 2
Notch proteins
CUL4B
HES1
Manganese
RRBP1
Progressive familial intrahepatic cholestasis
HEY2
Maralixibat chloride
Cholangiocyte
Pulmonary atresia with ventricular septal defect
Glycosylation
Vanishing bile duct syndrome
Jaundice
List of MeSH codes (C06)
Liver
List of MeSH codes (C16)
List of syndromes
Serotonin transporter
Neonatal jaundice
List of diseases (A)
Primary biliary cholangitis
Index of genetics articles
Alagille Syndrome - NIDDK
Alagille syndrome: MedlinePlus Genetics
Alagille Syndrome - Market Insight, Epidemiology and Market Forecast -2032
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment - PubMed
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised...
Bilateral Pulmonary Arterial Branches Rehabilitation in Alagille Syndrome
DailyMed - BYLVAY- odevixibat capsule, coated pellets
Assessment of Diffusion Tensor Imaging Parameters of Hepatic Parenchyma for Differentiation of Biliary Atresia from Alagille...
Michael Ma - Stanford Medicine Children's Health
CLINICAL AND GENETIC CHARACTERISTICS OF CHILDREN WITH ALAGILLE SYNDROME IN CHILDREN'S HOSPITAL NO. 1
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ALGS2
- 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)
Older with Alagille syndrome1
- Maralixibat is another IBATi that gained approval for cholestatic pruritus in adults and children aged 1 year and older with Alagille syndrome. (medscape.com)
People with Alagille syndrome4
- 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)
Biliary2
- 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)
NOTCH23
- 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 sÃndrome 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)
Dysplasia1
- Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. (tcnhikhoa.vn)
JAG15
- 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)
Mutations3
- 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)
Autosomal2
- 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)
Disorder4
- 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)
Paucity1
- In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). (medlineplus.gov)
Hepatic1
- 10. Giant hepatic regenerative nodules in Alagille syndrome. (nih.gov)
20181
- 2018). Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis. (tcnhikhoa.vn)
JAGGED11
- 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)
Peripheral1
- Surgical reconstruction of peripheral pulmonary artery stenosis in Williams and Alagille syndromes. (figshare.com)
Pulmonary3
- 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)
19991
- 1999). Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (tcnhikhoa.vn)
Disease3
- 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)
ICONIC1
- Approval was based on the ICONIC study and 5 years of data from supportive studies in 86 patients with Alagille syndrome. (medscape.com)
Outcomes1
- Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. (tcnhikhoa.vn)
Abnormalities1
- One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. (medlineplus.gov)
Diagnosis2
- Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. (tcnhikhoa.vn)
- Alagille syndrome: pathogenesis, diagnosis and management. (tcnhikhoa.vn)
Clinical Features1
- Children with Clinical Features of Alagille Syndrome. (tcnhikhoa.vn)
Complications1
- Doctors treat the symptoms and complications of Alagille syndrome with medicines and in some cases surgery. (nih.gov)
Symptoms3
- 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)
Infants1
- Getting enough nutrients is important for people who have Alagille syndrome, especially for infants and children. (nih.gov)
Bile ducts1
- A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. (nih.gov)
Diagnostic1
- This segment of the report covers the detailed diagnostic methods or tests for Alagille Syndrome. (researchandmarkets.com)
Treatment6
- 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)
Review1
- Berniczei-Royko A, Chalas R, Mitura I, Nagy K, Prussak E. Medical and dental management of Alagille syndrome: a review. (medlineplus.gov)
Data1
- 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)
Children1
- Results: Thirty two children diagnosed with Alagille syndrome were studied. (tcnhikhoa.vn)
Heart1
- Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). (medlineplus.gov)