People with Alagille syndromeNOTCH2MutationsDuctular hypoplasiaAbnormalitiesPaucityChildren's HealthXanthomasTransplantationAlagille'sJAG1GeneJaundiceKrantz IDBile ductsProminent foreheadCongenitalPruritusPediatricAnomaliesPrognosisAffectsManifestationsChromosomeDisorderDeficienciesSymptomsCholestasisKidneysCholestaticKidneyChildrenVitaminsBiliaryOrgansClinicalLiver diseaseFeaturesPatientsMildGenesRareProblems
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)
NOTCH24
- 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)
- 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)
- Diseases associated with NOTCH2 include Alagille syndrome 2 and Haydu-Cheney syndrome . (altmeyers.org)
Mutations3
- In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. (medlineplus.gov)
- 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)
Ductular hypoplasia1
- 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)
Abnormalities5
- One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. (medlineplus.gov)
- 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)
- Ocular abnormalities in Alagille syndrome. (medscape.com)
- In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. (nih.gov)
- So the symptoms of Williams syndrome are linked to connective tissue abnormalities resulting from these missing genes. (osmosis.org)
Paucity3
- Some studies have noted that 3-5% of patients undergoing the Kasai procedure for EHBA are eventually diagnosed with nonsyndromic bile duct paucity or Alagille syndrome. (medscape.com)
- In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). (medlineplus.gov)
- 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)
Xanthomas2
- 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)
- 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)
Transplantation3
- Among children with cholestatic liver disease, 1-year and 5-year survival after liver transplantation is significantly lower in children with Alagille syndrome than in children with biliary atresia . (medscape.com)
- Living-related liver transplantation for Alagille syndrome. (medscape.com)
- Orthotopic liver transplantation for children with Alagille syndrome. (medscape.com)
Alagille's2
- A liver biopsy means we study a small sample of liver tissue, which can have certain characteristics that indicate Alagille's syndrome. (childrens.com)
- citation needed] Other presentations of Alagille's syndrome include butterfly vertebrae, ophthalmic defects, and distinct facial structures. (wikipedia.org)
JAG11
- Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. (medlineplus.gov)
Gene8
- Most cases of Alagille syndrome happen because of a change in a specific gene. (childrens.com)
- 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)
- 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)
- In Williams syndrome , about 26 to 28 genes, including the elastin gene (ELN) on the long arm of chromosome 7 are missing due to a microdeletion. (osmosis.org)
- For example, the loss of the elastin gene leads to a broad forehead, flat nasal bridge, periorbital puffiness, short upturned nose, long medial cleft, full lips , and wide mouth that in combination give an 'elfin' like appearance. (osmosis.org)
- Williams syndrome is a chromosome disorder that results from the deletion of certain genes, including the elastin gene, on the long arm of chromosome 7. (osmosis.org)
Jaundice3
- 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)
Krantz ID1
- Krantz ID et al (2002) Alagille syndrome: chipping away at the tip of the iceberg. (altmeyers.org)
Bile ducts3
- Individuals with Alagille syndrome may have fewer bile ducts than normal. (childliverdisease.org)
- Alagille syndrome is a condition in which the liver has too few bile ducts. (rileychildrens.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)
Prominent forehead4
- Many people with ALGS have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. (wikipedia.org)
- Children and adults with Alagille syndrome often share physical features including a prominent forehead, deep-set eyes and a small chin. (childliverdisease.org)
- Typical facies with prominent forehead, sunken eyes and mild hypertelorism as well as a small prominent chin. (altmeyers.org)
- 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)
Congenital1
- There is no cure for Williams syndrome, and management involves treating associated conditions such as congenital heart defects, hypertension , and hypercalcemia, and providing therapy to maximize development and independence. (osmosis.org)
Pruritus4
- Several studies have noted beneficial effects of either cholestyramine (12-15 g/d) or rifampin in the management of bile acid-induced pruritus found in patients with Alagille syndrome. (medscape.com)
- The ileal bile acid transport (IBAT) inhibitor maralixibat (Livmarli) was approved in September 2021 for treatment of cholestatic pruritus in patients with Alagille syndrome aged 1 year and older. (medscape.com)
- A second iBAT inhibitor, odevixibat (Bylvay) was also approved by the FDA in June 2023 for treatment of cholestatic pruritus in patients with Alagille syndrome aged 1 year and older. (medscape.com)
- [ 21 ] Whitington et al reported a series of patients treated with partial external biliary diversion for pruritus associated with Alagille syndrome. (medscape.com)
Pediatric2
- What are the signs and symptoms of Pediatric Alagille Syndrome? (childrens.com)
- How is Pediatric Alagille Syndrome diagnosed? (childrens.com)
Anomalies3
- 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)
Prognosis1
- Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (medscape.com)
Affects4
- Alagille syndrome is a genetic disorder that usually affects the development and function of the liver. (childrens.com)
- Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. (wikipedia.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)
Manifestations2
- Garcia MA et al (2005) Alagille syndrome: cutaneous manifestations in 38 children. (altmeyers.org)
- Meckel or Meckel-Gruber syndrome is a clinically and genetically heterogeneous group of disorders with severe multisystem manifestations. (arizona.edu)
Chromosome1
- Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). (sjelden.no)
Disorder3
- Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. (medlineplus.gov)
- 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 a rare, autosomal, complex, dominant disorder associated with dysfunction of the liver , heart , skeleton , and eyes , as well as characteristic facial appearance. (bvsalud.org)
Deficiencies2
- Correction of vitamin deficiencies with appropriate vitamin dosage is important for optimal growth and development in patients with Alagille syndrome (AS). (medscape.com)
- 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)
Symptoms2
- 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)
- 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)
Cholestasis2
- however, the results for the patients with Alagille syndrome were less striking than with other preoperative diagnoses, including progressive familial intrahepatic cholestasis. (medscape.com)
- 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)
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)
Cholestatic1
- 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)
Kidney2
- Children with Alagille syndrome may have kidney cysts or a mild form of a kidney condition called kidney tubular acidosis. (rileychildrens.org)
- Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (nih.gov)
Children11
- These features do not make children look abnormal, they are simply common across those with Alagille syndrome. (childliverdisease.org)
- Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. (medscape.com)
- Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. (medscape.com)
- Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome. (medscape.com)
- Lykavieris P et al (2003) Bleeding tendency in children with Alagille syndrome. (altmeyers.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)
- 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)
- Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. (nih.gov)
- Rarely, the cause of Williams syndrome can also be inherited in an autosomal dominant fashion - so when a person with Williams syndrome has children, there is a 50% chance they'll pass down their own microdeletion to the offspring. (osmosis.org)
Vitamins1
- Blood tests can measure vitamins and other contents of the blood that are often affected by Alagille syndrome. (childrens.com)
Biliary1
- The exclusion of the diagnosis of extrahepatic biliary atresia (EHBA) via exploratory laparotomy and intraoperative cholangiography is not infrequent in patients with Alagille syndrome. (medscape.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)
Clinical1
- The syndrome is suspected by clinical features and can be confirmed with microarray analysis or fluorescence in situ hybridization (FISH). (osmosis.org)
Liver disease1
- In addition to liver disease, heart problems are one of the most common features of Alagille syndrome. (childliverdisease.org)
Features1
- What are the features of Alagille syndrome? (childliverdisease.org)
Patients4
- Approval was based on the ICONIC study and 5 years of data from supportive studies in 86 patients with Alagille syndrome. (medscape.com)
- However, complete surgical repair can significantly improve both longevity and quality of life in patients with Alagille syndrome. (wikipedia.org)
- Management of large hepatocellular carcinoma in adult patients with Alagille syndrome: a case report and review of literature. (familialcancerdatabase.nl)
- All this can improve quality of life in patients with Alagille syndrome . (bvsalud.org)
Mild1
- Some people have a very mild form of the condition and reach adulthood without knowing they have Alagille syndrome. (childliverdisease.org)
Genes1
- These genes are involved in many different systems in the body, which is why Alagille syndrome can have such a wide variety of effects. (childliverdisease.org)
Rare1
- Alagille syndrome is a rare, genetic condition. (childliverdisease.org)
Problems2
- Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). (medlineplus.gov)
- Problems associated with Alagille syndrome generally become evident in infancy or early childhood. (medlineplus.gov)