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Large congenital melanocytic nevus

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital atransferrinemia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Large congenital melanocytic nevus

Congenital atransferrinemia

MC1R	(UniProt - OMIM)		TF	(UniProt - OMIM)
NRAS	(UniProt - OMIM)


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

Citations in the biomedical literature:

Large congenital melanocytic nevus		Congenital atransferrinemia
	Synonym(s): - Congenital pigmented nevus - GMN - Giant congenital melanocytic nevus - Giant pigmented hairy nevus - LCMN		Synonym(s): - Congenital hypotransferrinemia

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538259

Large congenital melanocytic nevus		Congenital atransferrinemia
	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		Very frequent - Anaemia - Autosomal recessive inheritance Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Storage liver disease Occasional - Arthritis / synovitis / synovial proliferation - Hypothyroidy - Structural anomalies of the cardio-circulatory system - Structural anomalies of the pancreas