ORPHA:52
Alagille syndrome
Synonyms: Alagille-Watson syndrome · Arteriohepatic dysplasia · Syndromic bile duct paucity
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare developmental disease characterized by the variable association of chronic cholestasis due to paucity of intrahepatic bile ducts, congenital heart disease including pulmonary artery stenosis, butterfly-shaped vertebrae, posterior embryotoxon, characteristic facies, frequent growth retardation, glomerular/tubular kidney disease, and diffuse vascular arterial anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alagille syndrome | Alagille-Watson syndrome · Arteriohepatic dysplasia · Syndromic bile duct paucity |
| fr | Syndrome d'Alagille | Dysplasie artério-hépatique · Paucité des voies biliaires syndromique · Syndrome d'Alagille-Watsons |
| de | Alagille-Syndrom | Alagille-Watson-Syndrom · Dysplasie, arteriohepatische · Intrahepatische Gallenganghypoplasie, syndromale Form |
| es | Síndrome de Alagille | Displasia arteriohepática |
| it | Sindrome di Alagille | Delezione 20p11.2 · Displasia arterioepatica · Ipoplasia dei dotti biliari, forma sindromica |
| nl | Syndroom van Alagille | Arteriohepatische dysplasie · Syndromaal galweggebrek · Syndroom van Alagille-Watson |
| pt | Síndrome Alagille | Displasia arteriohepática · Escassez de ductos biliares, forma sindrómica |
| pl | Zespół Alagille'a | Zespół skąpości dróg żółciowych · Dysplazja tętnic wątrobowych · Zespół Alagille'a i Watsona |
| cs | Alagillův syndrom | Arteriohepatická dysplázie · Alagillův-Watsonův syndrom · Syndromická atrézie žlučových cest · Alagille-Watsonův syndrom |
| uk | Синдром Алажіля | Синдром Алагілла-Уотсона · Артеріопечінкова дисплазія · Синдром недостатності жовчних проток |
| zh | Alagille综合征 | 综合征性肝胆管缺失 |
| tr | Alagille sendromu | Alagille-Watson sendromu · Arteriohepatik displazi · Sendromik safra kanalı yetersizliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118450 | E | validated | |
| OMIM | 610205 | BTNT | validated | |
| ICD-10 | Q44.7 | NTBT | inclusion | validated |
| ICD-11 | LB20.0Y | NTBT | index | validated |
| MONDO | 0007318 | E | validated | |
| MeSH | D016738 | E | validated | |
| UMLS | C0085280 | E | validated | |
| GARD | 804 | E | validated | |
| MedDRA | 10053870 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| JAG1 | ORPHA:261619Alagille syndrome due to a JAG1 point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:6188 | ENSG00000101384 | 601920 | 20p12.2 | jagged canonical Notch ligand 1 | 21934706[PMID] |
| NOTCH2 | ORPHA:261629Alagille syndrome due to a NOTCH2 point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:7882 | ENSG00000134250 | 600275 | 1p12 | notch receptor 2 | 21934706[PMID] |
| JAG1 | ORPHA:261600Alagille syndrome due to 20p12 microdeletion | Role in the phenotype of | Assessed | HGNC:6188 | ENSG00000101384 | 601920 | 20p12.2 | jagged canonical Notch ligand 1 | 21934706[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Validated | 23881058[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Australia | Value and class | Validated | 559475[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only | Validated | 559475[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001396 | Cholestasis | |
| HP:0001131 | Corneal dystrophy | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0006571 | Reduced number of intrahepatic bile ducts | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0004617 | Butterfly vertebral arch | |
| HP:0000280 | Coarse facial features | |
| HP:0002007 | Frontal bossing | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003189 | Long nose | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| HP:0000311 | Round face | |
| HP:0003298 | Spina bifida occulta | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0001631 | Atrial septal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0000822 | Hypertension | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000563 | Keratoconus | |
| HP:0000347 | Micrognathia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000322 | Short philtrum | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52
- This record as JSON: /data/d/52.json