MCID: ALB017
MIFTS: 26

Albinism, Oculocutaneous, Type Vi

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 54 29 69
Oculocutaneous Albinism Type 6 24 56
Oca6 56 71
Skin/hair/eye Pigmentation, Variation in, 4 29
Oculocutaneous Albinism Type Vi 71
Albinism, Oculocutaneous, 6 71

Characteristics:

Orphanet epidemiological data:

56
oculocutaneous albinism type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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:



Summaries for Albinism, Oculocutaneous, Type Vi

OMIM : 54
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 oculocutaneous albinism type 6, is related to oculocutaneous albinism and albinism, and has symptoms including nystagmus, reduced visual acuity and photophobia. An important gene associated with Albinism, Oculocutaneous, Type Vi is SLC24A5 (Solute Carrier Family 24 Member 5). Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot : 71 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 V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

id Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 9.8
2 albinism 9.8

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vi

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
reduced visual acuity
foveal hypoplasia
iris transillumination
photophobia, mild
nystagmus, mild
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:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 reduced visual acuity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007663
3 photophobia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000613
4 abnormal iris pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008034
5 aplasia/hypoplasia of the macula 56 32 hallmark (90%) Very frequent (99-80%) HP:0008059
6 abnormal foveal morphology on macular oct 56 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 56 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:

id Genetic test Affiliating Genes
1 Skin/hair/eye Pigmentation, Variation in, 4 29
2 Albinism, Oculocutaneous, Type Vi 29
3 Oculocutaneous Albinism Type 6 24

Anatomical Context for Albinism, Oculocutaneous, Type Vi

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

39
Eye, Skin

Publications for Albinism, Oculocutaneous, Type Vi

Variations for Albinism, Oculocutaneous, Type Vi

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

6
id 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.1361dupT (p.Leu454Phefs) duplication Pathogenic rs886037644 GRCh38 Chromosome 15, 48142209: 48142209
3 SLC24A5 NM_205850.2(SLC24A5): c.528T> A (p.Cys176Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 48134922: 48134922

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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