Citrin deficiency
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Citrin deficiency | |
| fr | Déficit en citrine | |
| de | Citrin-Mangel | |
| es | Deficiencia de citrina | |
| it | Deficit di citrina | |
| nl | Citrinedeficiëntie | |
| pt | Deficiência de citrina | |
| pl | Niedobór cytrynianu | |
| cs | Deficit citrinu | |
| uk | Дефіцит цитрину | |
| zh | 柠檬酸缺乏症 | |
| tr | Sitrin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016602 | E | validated | |
| MONDO | 16602 | E | validated | |
| UMLS | C1997910 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:187Citrullinemia
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247582
- This record as JSON: /data/d/247582.json