OCA6
MCID: ALB017
MIFTS: 25

Albinism, Oculocutaneous, Type Vi (OCA6)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Vi

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vi:

Name: Albinism, Oculocutaneous, Type Vi 57 29 6 73
Oca6 57 59 75
Oculocutaneous Albinism Type Vi 75
Oculocutaneous Albinism Type 6 59
Albinism, Oculocutaneous, 6 75

Characteristics:

Orphanet epidemiological data:

59
oculocutaneous albinism type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
albinism, oculocutaneous, type vi:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113750
Orphanet 59 ORPHA370097
ICD10 via Orphanet 34 E70.3
MeSH 44 D016115
UMLS 73 C3805375

Summaries for Albinism, Oculocutaneous, Type Vi

OMIM : 57 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 : 75 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 9.9
2 albinism 9.9

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vi

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Albinism, Oculocutaneous, Type Vi:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
3 reduced visual acuity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007663
4 aplasia/hypoplasia of the macula 59 32 hallmark (90%) Very frequent (99-80%) HP:0008059
5 abnormal iris pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008034
6 abnormal foveal morphology on macular oct 59 32 hallmark (90%) Very frequent (99-80%) HP:0030613
7 visual impairment 32 HP:0000505
8 abnormality of the hair 32 HP:0001595
9 abnormality of the fundus 59 Very frequent (99-80%)

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 29

Anatomical Context for Albinism, Oculocutaneous, Type Vi

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

41
Eye, Skin

Publications for Albinism, Oculocutaneous, Type Vi

Variations for Albinism, Oculocutaneous, Type Vi

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC24A5 NM_205850.2(SLC24A5): c.591G> A (p.Trp197Ter) single nucleotide variant Pathogenic rs886037643 GRCh37 Chromosome 15, 48428880: 48428880
2 SLC24A5 NM_205850.2(SLC24A5): c.591G> A (p.Trp197Ter) single nucleotide variant Pathogenic rs886037643 GRCh38 Chromosome 15, 48136683: 48136683
3 SLC24A5 NM_205850.2(SLC24A5): c.1361dupT (p.Leu454Phefs) duplication Pathogenic rs886037644 GRCh38 Chromosome 15, 48142209: 48142209
4 SLC24A5 NM_205850.2(SLC24A5): c.1361dupT (p.Leu454Phefs) duplication Pathogenic rs886037644 GRCh37 Chromosome 15, 48434406: 48434406
5 SLC24A5 NM_205850.2(SLC24A5): c.528T> A (p.Cys176Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 48134922: 48134922
6 SLC24A5 NM_205850.2(SLC24A5): c.528T> A (p.Cys176Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 48427119: 48427119
7 SLC24A5 NM_205850.2(SLC24A5): c.641delT (p.Leu214Argfs) deletion Pathogenic rs772398324 GRCh37 Chromosome 15, 48428930: 48428930
8 SLC24A5 NM_205850.2(SLC24A5): c.641delT (p.Leu214Argfs) deletion Pathogenic rs772398324 GRCh38 Chromosome 15, 48136733: 48136733
9 SLC24A5 NM_205850.2(SLC24A5): c.521G> A (p.Arg174Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 48427112: 48427112
10 SLC24A5 NM_205850.2(SLC24A5): c.521G> A (p.Arg174Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 48134915: 48134915

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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