Oculocutaneous albinism

General Information (adopted from Orphanet):

Synonyms, Signs: OCA
Number of Symptoms 16
OrphanetNr: 55
OMIM Id:
ICD-10: E70.3
UMLs: C0078918
MeSH: D016115
MedDRA:
Snomed: 63844009

Prevalence, inheritance and age of onset:

Prevalence: 5.9 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of melanin metabolism
 -Rare genetic disease
Genetic hypopigmentation of the skin
 -Rare genetic disease
Hypopigmentation of the skin
 -Rare skin disease
Oculocutaneous or ocular albinism
 -Rare eye disease
 -Rare genetic disease

Comment:

This is a group of inherited disorders.

Symptom Information: Sort by abundance 

1
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
2
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
3
 (HPO:0008059) Aplasia/Hypoplasia of the macula Frequent [Orphanet] 21 / 7739
4
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
5
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
6
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
7
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
8
 (HPO:0000483) Astigmatism Frequent [Orphanet] 67 / 7739
9
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 40 / 7739
10
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
11
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
12
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
13
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
14
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
15
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
16
 (HPO:0005599) Hypopigmentation of hair Very frequent [Orphanet] 38 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: