ORPHA:261619
Alagille syndrome due to a JAG1 point mutation
Synonyms: Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation · Syndromic bile duct paucity due to a JAG1 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 JAG1 point mutation | Alagille-Watson syndrome due to a JAG1 point mutation · Arteriohepatic dysplasia due to a JAG1 point mutation · Syndromic bile duct paucity due to a JAG1 point mutation |
| fr | Syndrome d'Alagille dû à une mutation ponctuelle de JAG1 | Paucité des voies biliaires syndromique due à une mutation ponctuelle de JAG1 · Syndrome d'Alagille-Watsons dû à une mutation ponctuelle de JAG1 · Dysplasie artério-hépatique due à une mutation ponctuelle de JAG1 |
| de | Alagille-Syndrom durch JAG1-Gen-Punktmutationen | Alagille-Watson-Syndrom durch JAG1-Gen-Punktmutationen · Dysplasie, arteriohepatische, durch JAG1-Gen-Punktmutationen · Gallenganghypoplasie, intrahepatische, durch JAG1-Gen-Punktmutationen |
| es | Síndrome de Alagille por una mutación puntual en el gen JAG1 | Displasia arteriohepática por una mutación puntual en el gen JAG1 · Síndrome de Alagille-Watson por una mutación puntual en el gen JAG1 · Síndrome de escasez de conductos biliares por una mutación puntual en el gen JAG1 |
| it | Sindrome di Alagille da mutazione puntiforme di JAG1 | Displasia arterio-epatica da mutazione puntiforme di JAG1 · Paucità sindromica delle vie biliari da mutazione puntiforme di JAG1 · Sindrome di Alagille-Watson da mutazione puntiforme di JAG1 |
| nl | Syndroom van Alagille als gevolg van een JAG1-puntmutatie | Arteriohepatische dysplasie als gevolg van een JAG1-puntmutatie · Galwegaandoening als gevolg van een JAG1-puntmutatie · Syndroom van Alagille-Watson als gevolg van een JAG1-puntmutatie |
| pt | Síndrome Alagille por uma mutação pontual no JAG1 | |
| pl | Zespół Alagille'a z powodu mutacji punktowej JAG1 | Dysplazja tętniczo-wątrobowa z powodu mutacji punktowej JAG1 · Syndromiczna skąpość dróg żółciowych z powodu mutacji punktowej JAG1 · Zespół Alagille'a i Watsona z powodu mutacji punktowej JAG1 |
| cs | Alagilleův syndrom způsobený JAG1 bodovou mutací | Alagilleův-Watsonův syndrom způsobený JAG1 bodovou mutací · Arteriohepatická dysplázie způsobená JAG1 bodovou mutací · Syndromická nedostatečnost žlučovodu způsobená JAG1 bodovou mutací · Alagille-Watsonův syndrom způsobený JAG1 bodovou mutací |
| uk | Синдром Алажіля, зумовлений точковою мутацією JAG1 | Синдром Алажиля-Вотсона внаслідок мутації точки JAG1 · Артеріопечінкова дисплазія внаслідок точкової мутації JAG1 · Синдром недостатності жовчних проток внаслідок мутації точки JAG1 |
| zh | JAG1基因点突变所致Alagille综合征 | JAG1基因点突变所致综合症性胆管缺乏 |
| tr | JAG1 nokta mutasyonuna bağlı Alagille sendromu | JAG1 nokta mutasyonuna bağlı Alagille-Watson sendromu · JAG1 nokta mutasyonuna bağlı arteriyohepatik displazi · JAG1 nokta mutasyonuna bağlı sendromik safra kanalı yetersizliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118450 | NTBT | validated | |
| ICD-10 | Q44.7 | NTBT | attributed | validated |
| ICD-11 | LB20.0Y | NTBT | attributed | validated |
| MONDO | 0016862 | E | validated | |
| UMLS | C5679680 | 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 |
|---|---|---|---|---|---|---|---|---|
| JAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6188 | ENSG00000101384 | 601920 | 20p12.2 | jagged canonical Notch ligand 1 | 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/261619
- This record as JSON: /data/d/261619.json