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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial leiomyomatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PGM-CDG

Familial leiomyomatosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PGM1	(0.49)	FH

Citations in the biomedical literature:

PGM-CDG		Familial leiomyomatosis
	Synonym(s): - CDGIt		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): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		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		External references: 1 OMIM reference - No MeSH references

Familial leiomyomatosis
	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
PGM-CDG
(no data available)