ORPHA:261600
Alagille syndrome due to 20p12 microdeletion
Synonyms: Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12 · Alagille-Watson syndrome due to monosomy 20p12 · Arteriohepatic dysplasia due to monosomy 20p12 · Syndromic bile duct paucity due to monosomy 20p12
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- 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 20p12 microdeletion | Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12 · Alagille-Watson syndrome due to monosomy 20p12 · Arteriohepatic dysplasia due to monosomy 20p12 · Syndromic bile duct paucity due to monosomy 20p12 |
| fr | Syndrome d'Alagille dû à une microdélétion 20p12 | Dysplasie artério-hépatique due à une monosomie 20p12 · Paucité des voies biliaires syndromique due à une monosomie 20p12 · Syndrome d'Alagille dû à une monosomie 20p12 · Syndrome d'Alagille-Watsons dû à une monosomie 20p12 |
| de | Alagille-Syndrom durch Mikrodeletion 20p12 | Alagille-Syndrom durch Del(20)(p12) · Alagille-Syndrom durch Monosomie 20p12 · Alagille-Watson-Syndrom durch Monosomie 20p12 · Dysplasie, arteriohepatische, durch Monosomie 20p12 · Gallenganghypoplasie, intrahepatische, durch Monosomie 20p12 |
| es | Síndrome de Alagille por microdeleción 20p12 | Displasia arteriohepática por monosomía 20p12 · Síndrome de Alagille por del(20)(p12) · Síndrome de Alagille por monosomía 20p12 · Síndrome de Alagille-Watson por monosomía 20p12 · Síndrome de escasez de conductos biliares por monosomía 20p12 |
| it | Sindrome di Alagille da microdelezione 20p12 | Displasia arterio-epatica da monosomia 20p12 · Paucità sindromica delle vie biliari da monosomia 20p12 · Sindrome di Alagille da del(20)(p12) · Sindrome di Alagille da monosomia 20p12 · Sindrome di Alagille-Watson da monosomia 20p12 |
| nl | Syndroom van Alagille door 20p12-microdeletie | Aandoening van galwegen door monosomie 20p12 · Arteriohepatische dysplasie door monosomie 20p12 · Syndroom van Alagille door del(20)(p12) · Syndroom van Alagille door monosomie 20p12 · Syndroom van Alagille-Watson door monosomie 20p12 |
| pt | Síndrome Alagille por microdeleção 20p12 | Síndrome Alagille por monossomia 20p12 |
| pl | Zespół Alagille'a z powodu mikrodelecji 20p12 | Dysplazja tętniczo-wątrobowa z powodu monosomii 20p12 · Syndromic bile duct paucity due to monosomy 20p12 · Zespół Alagille'a i Watsona z powodu monosomii 20p12 · Zespół Alagille'a z powodu del(20)(p12) · Zespół Alagille'a z powodu monosomii 20p12 |
| cs | Alagilleův syndrom způsobený 20p12 mikrodelecí | Alagilleův syndrom způsobený del(20)(p12) · Alagilleův syndrom způsobený monozomií 20p12 · Alagilleův-Watsonův syndrom způsobený monozomií 20p12 · Arteriohepatická dysplázie způsobená monozomií 20p12 · Syndromická nedostatečnost žlučovodu způsobená monozomií 20p12 · Alagille-Watsonův syndrom způsobený monozomií 20p12 |
| uk | Синдром Алажіля, зумовлений мікроделеціїєю20p12 | Синдром Алажиля, зумовлений дефіцитом del(20)(p12) · Синдром Алажиля, зумовлений моносомією 20p12 · Синдром Алажиля-Вотсона, зумовлений моносомією 20p12 · Артеріопечінкова дисплазія внаслідок моносомії 20p12 · Синдром недостатності жовчних проток внаслідок моносомії 20p12 |
| zh | 20p12微缺失所致Alagille综合征 | 20p12单体所致综合症性胆管缺乏 |
| tr | 20p12 mikrodelesyonuna bağlı Alagille sendromu | Del'e bağlı Alagille sendromu (20) (p12) · Monozomi 20p12'ye bağlı Alagille sendromu · Monozomi 20p12'ye bağlı Alagille-Watson sendromu · Monozomi 20p12'ye bağlı arteriyohepatik displazi · Monozomi 20p12'ye 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 | 0016861 | E | validated | |
| UMLS | C5679679 | 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 (2):
- 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 - ORPHA:261992Partial deletion of the short arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAG1 | Role in the phenotype of | Assessed | HGNC:6188 | ENSG00000101384 | 601920 | 20p12.2 | jagged canonical Notch ligand 1 | 21934706[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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/261600
- This record as JSON: /data/d/261600.json