BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 616278
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
2
 (HPO:0002240) Hepatomegaly 467 / 7739
3
 (HPO:0000952) Jaundice 105 / 7739
4
 (HPO:0001744) Splenomegaly 337 / 7739
5
 (HPO:0001399) Hepatic failure 80 / 7739
6
 (HPO:0001891) Iron deficiency anemia 22 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: