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Familial leiomyomatosis
1 OMIM reference -
1 associated gene
22 connected diseases
10 signs/symptoms
Disease Type of connection
Fumaric aciduria
Leber congenital amaurosis
Senior-Loken syndrome
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
17p13.3 microduplication syndrome
AICA-ribosiduria
Dedifferentiated liposarcoma
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Lissencephaly due to LIS1 mutation
Methylcobalamin deficiency type cblE
Miller-Dieker syndrome
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
Subcortical band heterotopia
Well-differentiated liposarcoma
X-linked distal arthrogryposis multiplex congenita
Carbamoylphosphate synthetase deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary coproporphyria
PGM-CDG
Phosphoserine aminotransferase deficiency
Synonym(s):
- Familial leiomyomatosis with renal carcinoma
- Familial leiomyomatosis with renal cell cancer
- Familial multiple cutaneous leiomyomas
- HLRCC
- Hereditary leiomyomatosis
- Hereditary leiomyomatosis with renal carcinoma
- Hereditary leiomyomatosis with renal cell cancer
- Hereditary multiple cutaneous leiomyomas
- Multiple cutaneous and uterine leiomyomas
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FH P07954136850
Very frequent
- Autosomal dominant inheritance
- Muscle anomalies
- Skin tumors / lumps / epidermal cysts

Frequent
- Pruritus / itching

Occasional
- Cataract / lens opacification
- Esophageal neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer
- Vaginal / vulvar neoplasm / tumor / carcinoma / cancer