ORPHA:238475
Familial hypercholanemia
Synonyms: Hereditary hypercholanemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hypercholanemia | Hereditary hypercholanemia |
| fr | Hypercholanémie familiale | Hypercholanémie héréditaire |
| de | Hypercholanämie, familiäre | Hypercholanämie, hereditäre |
| es | Hipercolanemia familiar | Hipercolanemia hereditaria |
| it | Ipercolanemia familiare | Ipercolanemia ereditaria |
| nl | Familiale hypercholanemie | Erfelijke hypercholanemie |
| pt | Hipercolanemia familiar | |
| pl | Rodzinna hipercholanemia/podwyższone stężenie kwasów żółciowych w osoczu | Dziedziczna hipercholanemia |
| cs | Familiární hypercholanemie | Hereditární hypercholanemie |
| uk | Сімейна гіперхоланемія | Спадкова гіперхоланемія |
| zh | 家族性高胆烷血症 | 遗传性高胆烷血症 |
| tr | Ailesel hiperkolanemi | Kalıtsal hiperkolanemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607748 | BTNT | validated | |
| OMIM | 619232 | BTNT | validated | |
| OMIM | 619256 | BTNT | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.11 | NTBT | attributed | validated |
| MONDO | 31446 | E | validated | |
| UMLS | C1843139 | 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:163631Bile acid synthesis defect with cholestasis and malabsorption
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BAAT | Disease-causing germline mutation(s) in | Assessed | HGNC:932 | ENSG00000136881 | 602938 | 9q31.1 | bile acid-CoA:amino acid N-acyltransferase | 12704386[PMID] |
| EPHX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3401 | ENSG00000143819 | 132810 | 1q42.12 | epoxide hydrolase 1 | 12878321[PMID]_25992604[PMID] |
| SLC10A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10905 | ENSG00000100652 | 182396 | 14q24.1 | solute carrier family 10 member 1 | 28835676[PMID] |
| SLC10A5 | Disease-causing germline mutation(s) in | Assessed | HGNC:22981 | 8q21.13 | solute carrier family 10 member 5 | 38986003[PMID] | ||
| TJP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11828 | ENSG00000119139 | 607709 | 9q21.11 | tight junction protein 2 | 12704386[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
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/238475
- This record as JSON: /data/d/238475.json