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multiple cutaneous & uterine leiomyomata (MCUL1)
Genetics:
- autosomal dominant
- associated with defects in fumarase gene
Clinical manifestations:
- affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin
- affected females also usually develop leiomyomata of the uterus (fibroids)
Related
fumarase deficiency (fumaric aciduria)
hereditary leiomyomatosis & renal cell cancer (HLRCC)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 150800
References
OMIM :accession 150800