Oculocutaneous albinism type 7

General Information (adopted from Orphanet):

Synonyms, Signs: OCA7
Number of Symptoms 11
OrphanetNr: 352745
OMIM Id: 615179
ICD-10: E70.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23395477 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Oculocutaneous albinism
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002286) Fair hair 23395477 IBIS 20 / 7739
2
 (HPO:0030537) Unaided visual acuity 0.2 LogMAR 23395477 IBIS 1 / 7739
3
 (HPO:0000613) Photophobia 23395477 IBIS 158 / 7739
4
 (HPO:0000639) Nystagmus 23395477 IBIS 555 / 7739
5
 (HPO:0001022) Albinism 23395477 IBIS 43 / 7739
6
 (OMIM) Light complexion 23395477 IBIS 1 / 7739
7
 (OMIM) Mild photophobia 23395477 IBIS 3 / 7739
8
 (OMIM) Sparse pigmentation of the peripheral ocular fundus 23395477 IBIS 1 / 7739
9
 (OMIM) Pale blond to light brown 23395477 IBIS 1 / 7739
10
 (OMIM) Crossed asymmetry of cortical visual response on visual evoked potential testing 23395477 IBIS 1 / 7739
11
 (OMIM) Transillumination of the iris 23395477 IBIS 2 / 7739

Associated genes:

C10orf11;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gronskov et al. (2013) studied individuals with oculocutaneous albinism (OCA) due to mutations in the C10ORF11 gene (see MOLECULAR GENETICS). The authors stated that most of the affected individuals had a light complexion with a tendency to lighter ...
Molecular genetics OMIM In a consanguineous Faroese family with OCA mapping to chromosome 10q22.2-q22.3, Gronskov et al. (2013) analyzed the candidate gene C10ORF11 and identified homozygosity for a nonsense mutation (R194X; 614537.0001) that segregated with disease. Screening of an additional 8 ...