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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol MCUL1
Location 1q42.1
Name multiple cutaneous and uterine leiomyomata
Other name(s) leiomyoma, hereditary multiple, of skin
Corresponding gene FH
Main clinical features
  • association of cutaneous leiomyomas, rare benign tumors originating from the arrector pili muscles of the hair follicle, with the common uterine fibroids
    • Genetic determination autosomal dominant
    Related entries HLPRCC
    Function/system disorder sex-genitalia
    dermatology
    Type other
    Gene product
    Name fumarate hydratase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     germline mutations
    Remark(s) germline mutations of the FH gene are also associated with hereditary leiomyomatosis and renal cell cancer (HLPRCC), and recessive fumarate hydratase deficiency