ORPHA:480491
MYO5B-related progressive familial intrahepatic cholestasis
Synonyms: MYO5B deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MYO5B-related progressive familial intrahepatic cholestasis | MYO5B deficiency |
| fr | Cholestase intrahépatique familiale progressive associée à MYO5B | Déficit en MYO5B |
| de | Cholestase, familiäre intrahepatische progressive, MYO5B-abhängige | MYO5B-Mangel |
| es | Colestasis intrahepática familiar progresiva asociada a MYO5B | Deficiencia de MYO5B |
| it | Colestasi intraepatica familiare progressiva correlata a MYO5B | |
| nl | MYO5B-gerelateerde progressieve familiale intrahepatische cholestase | MYO5B-deficiëntie |
| pt | Colestase intra-hepática familiar progressiva MYO5B-relacionada | |
| pl | Rodzinna postępująca choleostaza wewnątrzwątrobowa zależna od MYO5B | = en |
| cs | MYO5B-vázaná progresivní familiární intrahepatální cholestáza | MYO5B deficiency · MYO5B deficit |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз, повязаний з MYO5B | Дефіцит MYO5B |
| zh | MYO5B相关的进行性家族性肝内胆汁淤积 | MYO5B缺陷 |
| tr | MYO5B -ilişkili ilerleyici ailesel intrahepatik kolestaz | MYO5B eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619868 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | NTBT | attributed | validated |
| MONDO | 0018804 | E | validated | |
| UMLS | C5680100 | 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 (1):
- ORPHA:172Progressive familial intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO5B | Disease-causing germline mutation(s) in | Assessed | HGNC:7603 | ENSG00000167306 | 606540 | 18q21.1 | myosin VB | 27532546[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27532546[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27532546[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480491
- This record as JSON: /data/d/480491.json