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Oculocutaneous albinism type 2
1 OMIM reference -
2 associated genes
15 connected diseases
12 signs/symptoms
Disease Type of connection
Angelman syndrome
Familial melanoma
Large congenital melanocytic nevus
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Obesity due to pro-opiomelanocortin deficiency
Kufor-Rakeb syndrome
Parkinsonim due to ATP13A2 deficiency
Congenital atransferrinemia
Familial glucocorticoid deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
X-linked distal arthrogryposis multiplex congenita
Obesity due to melanocortin 4 receptor deficiency
Synonym(s):
- OCA2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 -
1 MeSH reference: C537730
Gene symbol UniProt reference OMIM reference
MC1R Q01726155555
OCA2 Q04671611409
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