HEPATIC ADENOMAS, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs: LIVER CELL ADENOMAS, FAMILIAL
Number of Symptoms 5
OrphanetNr:
OMIM Id: 142330
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000147) Polycystic ovaries 18 / 7739
2
(HPO:0004904) Maturity-onset diabetes of the young 17 / 7739
3
(HPO:0012028) Hepatocellular adenoma 6 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Insulin-dependent maturity-onset diabetes of the young 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Foster et al. (1978) observed a family in which the mother and 3 of 5 children, a son and 2 daughters, all teenaged, had liver-cell adenomas. All 4 plus several other members of the kindred had insulin-dependent maturity-onset ...
Molecular genetics OMIM Bluteau et al. (2002) found biallelic inactivation of the TCF1 gene in 10 of 16 screened adenomas and heterozygous germline mutations in 3 individuals who also had MODY3 (see, e.g., 142410.0013-142410.0014). They concluded that inactivation of TCF1, whether ...