ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
14 signs/symptoms

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Large congenital melanocytic nevus

PYGL	(UniProt - OMIM)		MC1R	(UniProt - OMIM)
			NRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	MC1R

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Large congenital melanocytic nevus
	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): - Congenital pigmented nevus - GMN - Giant congenital melanocytic nevus - Giant pigmented hairy nevus - LCMN

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic 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: (no data available)

	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		Large congenital melanocytic nevus
	Very frequent - Autosomal recessive inheritance - Hypoglycemia - Short stature / dwarfism / nanism - Storage liver disease		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Scalp cyst / giant nevus Frequent - Hirsutism / hypertrichosis / Increased body hair - Neoplasms / tumors Occasional - Hydrocephaly - Irregular / patchy skin hypopigmentation - Melanoma - Pruritus / itching - Sarcoma - Seizures / epilepsy / absences / spasms / status epilepticus - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling