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Hemimegalencephaly

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Large congenital melanocytic nevus

1 OMIM reference -
2 associated genes
14 signs/symptoms

Hemimegalencephaly

Large congenital melanocytic nevus

AKT3	(UniProt - OMIM)		MC1R	(UniProt - OMIM)
PIK3CA	(UniProt - OMIM)		NRAS	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA	(0.71)	NRAS

Citations in the biomedical literature:

Hemimegalencephaly		Large congenital melanocytic nevus
	Synonym(s): - Unilateral megalencephaly		Synonym(s): - Congenital pigmented nevus - GMN - Giant congenital melanocytic nevus - Giant pigmented hairy nevus - LCMN

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references

Large congenital melanocytic nevus
	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
Hemimegalencephaly
(no data available)