Alagille syndrome 1

Preferred Label : Alagille syndrome 1;

Symbol : ALGS1;

CISMeF acronym : AHD; ALGS; ALGS1; AWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alagille-watson syndrome; Cholestasis with peripheral pulmonary stenosis; Hepatic ductular hypoplasia, syndromatic; Arteriohepatic dysplasia; AWS; AHD; ALGS; Alagille syndrome;

Description : Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012). Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. - Genetic Heterogeneity of Alagille Syndrome Another form of Alagille syndrome (ALGS2; 610205) is caused by mutation in the NOTCH2 gene (600275).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the jagged 1 gene (JAG1, 601920.0001);

Neoplasia : Hepatocellular carcinoma; Papillary thyroid carcinoma;

Laboratory abnormalities : Increased conjugated bilirubin; Hypercholesterolemia; Hypertriglyceridemia; Elevated transaminases;

Prefixed ID : #118450;

Details

Origin ID

118450;

UMLS CUI

C1956125;

Automatic exact mappings (from CISMeF team)
- Alagille syndrome [ICD-11 More detail]
- Alagille syndrome due to 20p12 microdeletion [ORDO Disease]
- Alagille syndrome due to a JAG1 point mutation [ORDO Disease]
- Algeria (geographic location) [SNOMED CT concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Alper Syndrome [NCIt concept]
- Antilymphocyte Serum [NCIt concept]
- JAG1 wt Allele [NCIt concept]
- Pain [PASCAL descriptor]
- algeria [MeSH concept]
- algeria [MeSH Descriptor]
- jagged canonical Notch ligand 1 [ORDO Gene]
- liver diseases [MedlinePlus Topic]
- pain [MeSH Descriptor]
Broader ORDO disease(s)
- Alagille syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Alagille Syndrome [NCIt concept]
- Alagille syndrome [DO Concept]
- Alagille syndrome [MedDRA Preferred Term]
- Alagille syndrome [ORDO Disease]
- Arteriohepatic dysplasia [PASCAL descriptor]
- Arteriohepatic dysplasia (disorder) [SNOMED CT concept]
- Other congenital malformations of liver [ICD-10 Sub-category]
- alagille syndrome [MeSH Descriptor]
- alagille syndrome [MeSH concept]
- alagille syndrome 1 [MeSH concept]
- arteriohepatic dysplasia [SNOMED Notion]
DO Cross reference
- Alagille syndrome [DO Concept]
False automatic mappings
- Algeria [NCIt concept]
- Aruba [NCIt concept]
- Associated with (attribute) [SNOMED CT concept]
Genes related to phenotype
- Jagged 1 [OMIM gene]
HPO term(s)
- Abnormal anterior chamber morphology [HPO term]
- Abnormal rib morphology [HPO term]
- Areflexia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axenfeld anomaly [HPO term]
- Band keratopathy [HPO term]
- Broad forehead [HPO term]
- Butterfly vertebral arch [HPO term]
- Cataract [HPO term]
- Cholestasis [HPO term]
- Chorioretinal atrophy [HPO term]
- Cirrhosis [HPO term]
- Coarctation of aorta [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Duplicated collecting system [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hemivertebrae [HPO term]
- Hepatic failure [HPO term]
- Hepatocellular carcinoma [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertelorism [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoplasia of the ulna [HPO term]
- Incomplete penetrance [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Long nose [HPO term]
- Macrotia [HPO term]
- Medullary cystic disease [HPO term]
- Microcornea [HPO term]
- Multiple small medullary renal cysts [HPO term]
- Myopia [HPO term]
- Papillary thyroid carcinoma [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Pigmentary retinopathy [HPO term]
- Posterior embryotoxon [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Reduced number of intrahepatic bile ducts [HPO term]
- Renal artery stenosis [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Renal tubular acidosis [HPO term]
- Retinal pigment clumping [HPO term]
- Short distal phalanx of finger [HPO term]
- Specific learning disability [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
- Stroke [HPO term]
- Tetralogy of Fallot [HPO term]
- Triangular face [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Alagille syndrome [ORDO Disease]
- Alagille syndrome due to 20p12 microdeletion [ORDO Disease]
- Alagille syndrome due to a JAG1 point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- alagille syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- Alagille syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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