ODCs

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Glycogen storage disease due to liver glycogen phosphorylase deficiency

1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Familial leiomyomatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Familial leiomyomatosis

PYGL

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	FH

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Familial leiomyomatosis
	Synonym(s): - GSD due to liver glycogen phosphorylase deficiency - GSD type 6B - Glycogen storage disease type 6B - Glycogenosis due to liver glycogen phosphorylase deficiency - Glycogenosis type 6B - Hepatic glycogen phosphorylase deficiency - Hepatic phosphorylase deficiency - Hers disease - Liver glycogen phosphorylase 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): - Inborn errors of metabolism - 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: unknown Average age onset: childhood 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

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Familial leiomyomatosis
	Very frequent - Autosomal recessive inheritance - Hypoglycemia - Short stature / dwarfism / nanism - Storage liver disease		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