ODCs

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1 OMIM reference -
2 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Oculocutaneous albinism type 2

Congenital atransferrinemia

MC1R	(UniProt - OMIM)		TF	(UniProt - OMIM)
OCA2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Oculocutaneous albinism type 2		Congenital atransferrinemia
	Synonym(s): - OCA2		Synonym(s): - Congenital hypotransferrinemia

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		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 - 1 MeSH reference: C537730		External references: 1 OMIM reference - 1 MeSH reference: C538259


COMMON SIGNS	- Autosomal recessive inheritance

Oculocutaneous albinism type 2		Congenital atransferrinemia
	Very frequent - Iris albinism / ocular albinism Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - 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 - Melanoma - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Strabismus / squint		Very frequent - Anaemia 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