OCA8
MCID: OCL081
MIFTS: 18

Oculocutaneous Albinism, Type Viii (OCA8)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oculocutaneous Albinism, Type Viii

MalaCards integrated aliases for Oculocutaneous Albinism, Type Viii:

Name: Oculocutaneous Albinism, Type Viii 57 6
Oculocutaneous Albinism Type 8 29
Oca8 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619165
OMIM Phenotypic Series 57 PS203100

Summaries for Oculocutaneous Albinism, Type Viii

OMIM® : 57 Oculocutaneous albinism type VIII (OCA8) is characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina (Pennamen et al., 2020). (619165) (Updated 05-Mar-2021)

MalaCards based summary : Oculocutaneous Albinism, Type Viii, also known as oculocutaneous albinism type 8, is related to hermansky-pudlak syndrome 11 and albinism. An important gene associated with Oculocutaneous Albinism, Type Viii is DCT (Dopachrome Tautomerase). Affiliated tissues include retina.

Related Diseases for Oculocutaneous Albinism, Type Viii

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V
Oculocutaneous Albinism, Type Viii

Diseases related to Oculocutaneous Albinism, Type Viii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 11 9.9
2 albinism 9.9

Symptoms & Phenotypes for Oculocutaneous Albinism, Type Viii

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
photophobia
iris transillumination
nystagmus, congenital
reduced visual acuity, mild to moderate
hypopigmentation of the retina
more
Skin Nails Hair Hair:
hypopigmentation of hair, mild

Skin Nails Hair Skin:
hypopigmentation of skin, mild

Clinical features from OMIM®:

619165 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oculocutaneous Albinism, Type Viii

Search Clinical Trials , NIH Clinical Center for Oculocutaneous Albinism, Type Viii

Genetic Tests for Oculocutaneous Albinism, Type Viii

Genetic tests related to Oculocutaneous Albinism, Type Viii:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 8 29

Anatomical Context for Oculocutaneous Albinism, Type Viii

MalaCards organs/tissues related to Oculocutaneous Albinism, Type Viii:

40
Retina

Publications for Oculocutaneous Albinism, Type Viii

Articles related to Oculocutaneous Albinism, Type Viii:

# Title Authors PMID Year
1
Dopachrome tautomerase variants in patients with oculocutaneous albinism. 6 61
33100333 2020
2
HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes. 61
32969584 2021

Variations for Oculocutaneous Albinism, Type Viii

ClinVar genetic disease variations for Oculocutaneous Albinism, Type Viii:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCT NM_001922.5(DCT):c.118T>A (p.Cys40Ser) SNV Pathogenic 929863 rs370729240 13:95131392-95131392 13:94479138-94479138
2 DCT NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) Deletion Pathogenic 930182 13:95095751-95095764 13:94443497-94443510
3 DCT NM_001922.5(DCT):c.183C>G (p.Cys61Trp) SNV Pathogenic 929864 13:95131327-95131327 13:94479073-94479073

Expression for Oculocutaneous Albinism, Type Viii

Search GEO for disease gene expression data for Oculocutaneous Albinism, Type Viii.

Pathways for Oculocutaneous Albinism, Type Viii

GO Terms for Oculocutaneous Albinism, Type Viii

Sources for Oculocutaneous Albinism, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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