LEIOMYOMA, UTERINE

General Information (adopted from Orphanet):

Synonyms, Signs: UL
Number of Symptoms 3
OrphanetNr:
OMIM Id: 150699
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:0000131) Uterine leiomyoma 4 / 7739
2
(HPO:0001428) Somatic mutation 100 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Because mutations in the gene encoding fumarate hydratase (FH) underlie syndromic forms of uterine leiomyomas, namely multiple cutaneous and uterine leiomyomata (150800), Gross et al. (2004) investigated whether mutations in the FH gene may predispose women to developing ...