ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
12 signs/symptoms

Large congenital melanocytic nevus

Oculocutaneous albinism type 2

MC1R	(UniProt - OMIM)		MC1R	(UniProt - OMIM)
NRAS	(UniProt - OMIM)		OCA2	(UniProt - OMIM)

Citations in the biomedical literature:

Large congenital melanocytic nevus		Oculocutaneous albinism type 2
	Synonym(s): - Congenital pigmented nevus - GMN - Giant congenital melanocytic nevus - Giant pigmented hairy nevus - LCMN		Synonym(s): - OCA2

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537730


COMMON SIGNS	- Abnormal pigmentary skin changes / skin pigmentation anomalies - Melanoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)

Large congenital melanocytic nevus		Oculocutaneous albinism type 2
	Very frequent - 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 - Pruritus / itching - Sarcoma - Seizures / epilepsy / absences / spasms / status epilepticus - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling		Very frequent - Autosomal recessive inheritance - Iris albinism / ocular albinism Frequent - Decreased hair pigmentation / hypopigmentation of hair - Excessive freckling - Mild visual loss / impaired visual acuity - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Photophobia Occasional - Strabismus / squint