Hereditary North American Indian childhood cirrhosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary North American Indian childhood cirrhosis | |
| fr | Cirrhose héréditaire des enfants indiens d'Amérique du Nord | |
| de | Hereditäre infantile Zirrhose der nordamerikanischen Indianer | |
| es | Cirrosis hereditaria de los niños indios de América del Norte | |
| it | Cirrosi infantile ereditaria degli Indiani del Nord America | |
| nl | Erfelijke cirrose op kinderleeftijd bij Noord-Amerikaanse Indianen | |
| pt | Cirrose infantil hereditária em índios norte-americanos | |
| pl | Dziedziczna marskość wątroby u Indian Ameryki Północnej | |
| cs | Dědičná forma cirhózy dětí severoamerických indiánů | |
| uk | Спадковий дитячий цироз печінки північноамериканських індіанців | |
| zh | 遗传性北美印第安人儿童肝硬化 | |
| tr | Kalıtsal Kuzey Amerika Kızılderili çocukluk sirozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604901 | E | validated | |
| ICD-10 | K74.6 | NTBT | attributed | validated |
| ICD-11 | DB93.20 | E | specific | validated |
| MONDO | 0011497 | E | validated | |
| MeSH | C565737 | E | validated | |
| UMLS | C1858051 | 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:172Progressive familial intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UTP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1983 | ENSG00000141076 | 607456 | 16q22.1 | UTP4 small subunit processome component | 12417987[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168583
- This record as JSON: /data/d/168583.json