ORPHA:261629
Alagille syndrome due to a NOTCH2 point mutation
Synonyms: Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation · Syndromic bile duct paucity due to a NOTCH2 point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Alagille syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alagille syndrome due to a NOTCH2 point mutation | Alagille-Watson syndrome due to a NOTCH2 point mutation · Arteriohepatic dysplasia due to a NOTCH2 point mutation · Syndromic bile duct paucity due to a NOTCH2 point mutation |
| fr | Syndrome d'Alagille dû à une mutation ponctuelle de NOTCH2 | Dysplasie artério-hépatique due à une mutation ponctuelle de NOTCH2 · Paucité des voies biliaires syndromique due à une mutation ponctuelle de NOTCH2 · Syndrome d'Alagille-Watsons dû à une mutation ponctuelle de NOTCH2 |
| de | Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen | Alagille-Watson-Syndrom durch NOTCH2-Gen-Punktmutationen · Dysplasie, arteriohepatische, durch NOTCH2-Gen-Punktmutationen · Gallenganghypoplasie, intrahepatische, durch NOTCH2-Gen-Punktmutationen |
| es | Síndrome de Alagille por una mutación puntual en el gen NOTCH2 | Displasia arteriohepática por una mutación puntual en el gen NOTCH2 · Síndrome de Alagille-Watson por una mutación puntual en el gen NOTCH2 · Síndrome de escasez de conductos biliares por una mutación puntual en el gen NOTCH2 |
| it | Sindrome di Alagille da mutazione puntiforme di NOTCH2 | Displasia arterio-epatica da mutazione puntiforme di NOTCH2 · Paucità sindromica delle vie biliari da mutazione puntiforme di NOTCH2 · Sindrome di Alagille-Watson da mutazione puntiforme di NOTCH2 |
| nl | Syndroom van Alagille als gevolg van een NOTCH2-puntmutatie | Arteriohepatische dysplasie als gevolg van een NOTCH2-puntmutatie · Galwegaandoening als gevolg van een NOTCH2-puntmutatie · Syndroom van Alagille-Watson als gevolg van een NOTCH2-puntmutatie |
| pt | Síndrome Alagille por uma mutação pontual no NOTCH2 | |
| pl | Zespół Alagille'a z powodu mutacji punktowej NOTCH2 | Dysplazja tętniczo-wątrobowa z powodu mutacji punktowej NOTCH2 · Syndromiczna skąpość dróg żółciowych z powodu mutacji punktowej NOTCH2 · Zespół Alagille'a i Watsona z powodu mutacji punktowej NOTCH2 |
| cs | Alagilleův syndrom způsobený NOTCH2 bodovou mutací | Alagilleův-Watsonův syndrom způsobený NOTCH2 bodovou mutací · Arteriohepatická dysplázie způsobená NOTCH2 bodovou mutací · Syndromická nedostatečnost způsobená bodovou mutací NOTCH2 · Alagille-Watsonův syndrom způsobený NOTCH2 bodovou mutací |
| uk | Синдром Алажіля, зумовлений точковою мутацією NOTCH2 | Синдром Алажиля-Вотсона, зумовлений мутацією точки NOTCH2 · Артеріопечінкова дисплазія внаслідок мутації точки NOTCH2 · Синдром недостатності жовчних проток внаслідок мутації точки NOTCH2 |
| zh | NOTCH2基因点突变所致Alagille综合征 | NOTCH2基因点突变所致综合症性胆管缺乏 |
| tr | NOTCH2 nokta mutasyonuna bağlı Alagille sendromu | NOTCH2 nokta mutasyonuna bağlı Alagille-Watson sendromu · NOTCH2 nokta mutasyonuna bağlı arteriyohepatik displazi · NOTCH2 nokta mutasyonuna bağlı sendromik safra kanalı yetersizliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610205 | E | validated | |
| ICD-10 | Q44.7 | NTBT | attributed | validated |
| ICD-11 | LB20.0Y | NTBT | attributed | validated |
| MONDO | 0012439 | E | validated | |
| UMLS | C1857761 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:52Alagille syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases; rare abdominal surgical diseases; rare hepatic diseases; rare renal diseases; rare ophthalmic disorders; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7882 | ENSG00000134250 | 600275 | 1p12 | notch receptor 2 | 21934706[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261629
- This record as JSON: /data/d/261629.json