ORPHA:199285
Hereditary hypercarotenemia and vitamin A deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hypercarotenemia and vitamin A deficiency | |
| fr | Déficit en vitamine A et hypercarotinémie héréditaire | |
| de | Hyperkarotinämie, hereditäre, mit Vitamin A-Mangel | |
| es | Hipercarotinemia hereditaria y deficiencia de vitamina A | |
| it | Ipercarotenemia ereditaria e deficit della vitamina A | |
| nl | Hereditaire hypercarotenemie en vitamine A-deficiëntie | |
| pt | Hipercarotenemia e deficiência de vitamina A hereditárias | |
| pl | Dziedziczna hiperkarotenemia i Niedobór witaminy A | |
| cs | Hereditární hyperkarotenemie a deficit vitaminu A | |
| uk | Спадкова гіперкаротинемія та дефіцит вітаміну А | |
| zh | 遗传性高胆固醇血症和维生素A缺乏症 | |
| tr | Kalıtsal hiperkarotenemi ve A vitamini eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115300 | E | validated | |
| OMIM | 277350 | BTNT | validated | |
| ICD-10 | E50.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.Y | NTBT | index | validated |
| MONDO | 0007272 | E | validated | |
| UMLS | C4511672 | 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:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCO1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13815 | ENSG00000135697 | 605748 | 16q23.2 | beta-carotene oxygenase 1 | 17951468[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
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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/199285
- This record as JSON: /data/d/199285.json