OCA6
MCID: ALB017
MIFTS: 28

Albinism, Oculocutaneous, Type Vi (OCA6)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Vi

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vi:

Name: Albinism, Oculocutaneous, Type Vi 58 30 6 74
Oca6 58 60 76
Oculocutaneous Albinism Type Vi 76
Oculocutaneous Albinism Type 6 60
Albinism, Oculocutaneous, 6 76

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variation in slc24a5 has also been associated with variation in skin color (shep4)


HPO:

33
albinism, oculocutaneous, type vi:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 113750
MeSH 45 D016115
ICD10 via Orphanet 35 E70.3
Orphanet 60 ORPHA370097
UMLS 74 C3805375

Summaries for Albinism, Oculocutaneous, Type Vi

OMIM : 58 Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder, with a worldwide prevalence of approximately 1:17,000. It manifests as a reduction or complete loss of melanin in the skin, hair, and eyes, often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus (summary by Wei et al., 2013). For a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see SHEP1 (227220). (113750)

MalaCards based summary : Albinism, Oculocutaneous, Type Vi, also known as oca6, is related to oculocutaneous albinism and albinism. An important gene associated with Albinism, Oculocutaneous, Type Vi is SLC24A5 (Solute Carrier Family 24 Member 5). Affiliated tissues include eye and skin, and related phenotypes are nystagmus and photophobia

UniProtKB/Swiss-Prot : 76 Albinism, oculocutaneous, 6: A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.

Related Diseases for Albinism, Oculocutaneous, Type Vi

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

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

# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 10.1
2 albinism 10.1

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vi

Human phenotypes related to Albinism, Oculocutaneous, Type Vi:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
3 reduced visual acuity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007663
4 aplasia/hypoplasia of the macula 60 33 hallmark (90%) Very frequent (99-80%) HP:0008059
5 abnormal iris pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008034
6 abnormal foveal morphology on macular oct 60 33 hallmark (90%) Very frequent (99-80%) HP:0030613
7 generalized hypopigmentation 33 HP:0007513
8 hypoplasia of the fovea 33 HP:0007750
9 abnormal fundus morphology 60 Very frequent (99-80%)
10 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
reduced visual acuity
foveal hypoplasia
nystagmus, mild
photophobia, mild
iris transillumination
more
Skin Nails Hair Skin Electron Microscopy:
fewer mature melanosomes in melanocytes

Skin Nails Hair Skin:
fair skin
lighter skin color

Skin Nails Hair Hair:
lighter hair color
decreased eumelanin content

Clinical features from OMIM:

113750

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Vi

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

Genetic Tests for Albinism, Oculocutaneous, Type Vi

Genetic tests related to Albinism, Oculocutaneous, Type Vi:

# Genetic test Affiliating Genes
1 Albinism, Oculocutaneous, Type Vi 30

Anatomical Context for Albinism, Oculocutaneous, Type Vi

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

42
Eye, Skin

Publications for Albinism, Oculocutaneous, Type Vi

Articles related to Albinism, Oculocutaneous, Type Vi:

# Title Authors Year
1
In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for Oculocutaneous Albinism type 6 (OCA 6) disorder. ( 30204049 )
2018
2
Loci associated with skin pigmentation identified in African populations. ( 29025994 )
2017
3
Detection of the first OCA6 Italian patient in a large cohort of albino subjects. ( 26686029 )
2016
4
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. ( 26491832 )
2016
5
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. ( 23985994 )
2014
6
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. ( 23364476 )
2013
7
Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. ( 23010199 )
2012
8
A genomewide association study of skin pigmentation in a South Asian population. ( 17999355 )
2007
9
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. ( 16357253 )
2005

Variations for Albinism, Oculocutaneous, Type Vi

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Vi:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC24A5 NM_205850.2(SLC24A5): c.571_572insTAAT (p.Tyr191Leufs) insertion association rs886037642 GRCh38 Chromosome 15, 48134965: 48134966
2 SLC24A5 NM_205850.2(SLC24A5): c.571_572insTAAT (p.Tyr191Leufs) insertion association rs886037642 GRCh37 Chromosome 15, 48427162: 48427163
3 SLC24A5 NM_205850.2(SLC24A5): c.591G> A (p.Trp197Ter) single nucleotide variant Pathogenic rs886037643 GRCh37 Chromosome 15, 48428880: 48428880
4 SLC24A5 NM_205850.2(SLC24A5): c.591G> A (p.Trp197Ter) single nucleotide variant Pathogenic rs886037643 GRCh38 Chromosome 15, 48136683: 48136683
5 SLC24A5 NM_205850.2(SLC24A5): c.1361dupT (p.Leu454Phefs) duplication Pathogenic rs886037644 GRCh38 Chromosome 15, 48142209: 48142209
6 SLC24A5 NM_205850.2(SLC24A5): c.1361dupT (p.Leu454Phefs) duplication Pathogenic rs886037644 GRCh37 Chromosome 15, 48434406: 48434406
7 SLC24A5 NM_205850.2(SLC24A5): c.528T> A (p.Cys176Ter) single nucleotide variant Pathogenic rs1555452574 GRCh38 Chromosome 15, 48134922: 48134922
8 SLC24A5 NM_205850.2(SLC24A5): c.528T> A (p.Cys176Ter) single nucleotide variant Pathogenic rs1555452574 GRCh37 Chromosome 15, 48427119: 48427119
9 SLC24A5 NM_205850.2(SLC24A5): c.331A= (p.Thr111=) single nucleotide variant association rs1426654 GRCh38 Chromosome 15, 48134287: 48134287
10 SLC24A5 NM_205850.2(SLC24A5): c.331A= (p.Thr111=) single nucleotide variant association rs1426654 GRCh37 Chromosome 15, 48426484: 48426484
11 SLC24A5 NM_205850.2(SLC24A5): c.521G> A (p.Arg174Lys) single nucleotide variant Pathogenic rs1555452572 GRCh38 Chromosome 15, 48134915: 48134915
12 SLC24A5 NM_205850.2(SLC24A5): c.521G> A (p.Arg174Lys) single nucleotide variant Pathogenic rs1555452572 GRCh37 Chromosome 15, 48427112: 48427112
13 SLC24A5 NM_205850.2(SLC24A5): c.641delT (p.Leu214Argfs) deletion Pathogenic rs772398324 GRCh38 Chromosome 15, 48136733: 48136733
14 SLC24A5 NM_205850.2(SLC24A5): c.641delT (p.Leu214Argfs) deletion Pathogenic rs772398324 GRCh37 Chromosome 15, 48428930: 48428930

Expression for Albinism, Oculocutaneous, Type Vi

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

Pathways for Albinism, Oculocutaneous, Type Vi

GO Terms for Albinism, Oculocutaneous, Type Vi

Sources for Albinism, Oculocutaneous, Type Vi

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....