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Oculocutaneous albinism type 2

1 OMIM reference -
2 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Kufor-Rakeb syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

Oculocutaneous albinism type 2

Kufor-Rakeb syndrome

MC1R	(UniProt - OMIM)		ATP13A2	(UniProt - OMIM)
OCA2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OCA2	(0.72)	ATP13A2

Citations in the biomedical literature:

Oculocutaneous albinism type 2		Kufor-Rakeb syndrome
	Synonym(s): - OCA2		Synonym(s): - PARK9

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	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: (no data available)

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

Oculocutaneous albinism type 2
	Very frequent - Autosomal recessive inheritance - 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
Kufor-Rakeb syndrome
(no data available)