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Familial hypercholanemia
1 OMIM reference -
3 associated genes
4 connected diseases
No signs/symptoms info
Disease Type of connection
Fetal hydantoin syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
- Hereditary hypercholanemia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
BAAT Q14032602938
EPHX1 P07099132810
TJP2 Q9UDY2607709
No signs/symptoms info available.