OCA6
MCID: ALB017
MIFTS: 30

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 57 29 6 70
Oca6 57 58 72
Oculocutaneous Albinism Type Vi 12 72
Oculocutaneous Albinism Type 6 58
Albinism, Oculocutaneous, 6 72

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 6
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
albinism, oculocutaneous, type vi:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080614
OMIM® 57 113750
OMIM Phenotypic Series 57 PS203100 PS227220
MeSH 44 D016115
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA370097
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Albinism, Oculocutaneous, Type Vi, also known as oca6, is related to oculocutaneous albinism and hypopigmentation of the skin. 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

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive null mutation of SLC24A5 on chromosome 15q21.1.

UniProtKB/Swiss-Prot : 72 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
Oculocutaneous Albinism, Type Viii

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 29.3 SLC24A5 MYEF2
2 hypopigmentation of the skin 10.1
3 albinism 10.1
4 strabismus 9.9
5 mechanical strabismus 9.9
6 pathologic nystagmus 9.9

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Vi:



Diseases related to Albinism, Oculocutaneous, Type Vi

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vi

Human phenotypes related to Albinism, Oculocutaneous, Type Vi:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 reduced visual acuity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007663
4 aplasia/hypoplasia of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0008059
5 abnormal iris pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008034
6 abnormal foveal morphology on macular oct 58 31 hallmark (90%) Very frequent (99-80%) HP:0030613
7 generalized hypopigmentation 31 HP:0007513
8 hypoplasia of the fovea 31 HP:0007750
9 abnormal fundus morphology 58 Very frequent (99-80%)
10 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
reduced visual acuity
nystagmus, mild
photophobia, mild
iris transillumination
light colored irises (blue, green, light brown)
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 (Updated 20-May-2021)

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:

40
Eye, Skin

Publications for Albinism, Oculocutaneous, Type Vi

Articles related to Albinism, Oculocutaneous, Type Vi:

(show all 23)
# Title Authors PMID Year
1
Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. 61 57 6
26491832 2016
2
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 6 57 61
23364476 2013
3
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. 6 57
23985994 2014
4
Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. 6 57
23010199 2012
5
A genomewide association study of skin pigmentation in a South Asian population. 57 6
17999355 2007
6
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. 57 6
16357253 2005
7
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses. 61 57
28655738 2017
8
Erratum for the Research Article: "Loci associated with skin pigmentation identified in African populations" by Nicholas G. Crawford, D. E. Kelly, M. E. B. Hansen, M. H. Beltrame, S. Fan, S. L. Bowman, E. Jewett, A. Ranciaro, S. Thompson, Y. Lo, S. P. Pfeifer, J. D. Jensen, M. C. Campbell, W. Beggs, F. Hormozdiari, S. W. Mpoloka, G. G. Mokone, T. Nyambo, D. Wolde Meskel, G. Belay, J. Haut, NISC Comparative Sequencing Program, H. Rothschild, L. Zon, Y. Zhou, M. A. Kovacs, M. Xu, T. Zhang, K. Bishop, J. Sinclair, C. Rivas, E. Elliot, J. Choi, S. A. Li, B. Hicks, S. Burgess, C. Abnet, D. E. Watkins-Chow, E. Oceana, Y. S. Song, E. Eskin, K. M. Brown, M. S. Marks, S. K. Loftus, W. J. Pavan, M. Yeager, S. Chanock, S. A. Tishkoff. 6
31949055 2020
9
Loci associated with skin pigmentation identified in African populations. 57
29025994 2017
10
Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6. 61
32274888 2020
11
Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene. 61
31486119 2019
12
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. 61
31077556 2019
13
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. 61
30204049 2019
14
Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production. 61
31201282 2019
15
Genetic diseases associated with an increased risk of skin cancer development in childhood. 61
28525403 2017
16
Clinical evaluation and molecular screening of a large consecutive series of albino patients. 61
27734839 2017
17
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. 61
27129268 2016
18
Detection of the first OCA6 Italian patient in a large cohort of albino subjects. 61
26686029 2016
19
Tilting structures in inverse perovskites, M3TtO (M = Ca, Sr, Ba, Eu; Tt = Si, Ge, Sn, Pb). 61
26027006 2015
20
Increasing the complexity: new genes and new types of albinism. 61
24066960 2014
21
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
22
Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms. 61
21409566 2011
23
Porphyrins with four monodisperse oligocarbazole arms: facile synthesis and photophysical properties. 61
18229940 2008

Variations for Albinism, Oculocutaneous, Type Vi

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC24A5 NM_205850.3(SLC24A5):c.331= (p.Thr111=) SNV association 1487 rs1426654 GRCh37: 15:48426484-48426484
GRCh38: 15:48134287-48134287
2 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) Insertion association 60558 rs886037642 GRCh37: 15:48427160-48427161
GRCh38: 15:48134963-48134964
3 SLC24A5 NM_205850.3(SLC24A5):c.121G>T (p.Gly41Ter) SNV Pathogenic 1032619 GRCh37: 15:48413362-48413362
GRCh38: 15:48121165-48121165
4 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.641del (p.Leu214fs) Deletion Pathogenic 440483 rs772398324 GRCh37: 15:48428930-48428930
GRCh38: 15:48136733-48136733
5 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) Duplication Pathogenic 60560 rs886037644 GRCh37: 15:48434399-48434400
GRCh38: 15:48142202-48142203
6 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) SNV Pathogenic 60559 rs886037643 GRCh37: 15:48428880-48428880
GRCh38: 15:48136683-48136683
7 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) SNV Pathogenic 440484 rs1555452572 GRCh37: 15:48427112-48427112
GRCh38: 15:48134915-48134915
8 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter) SNV Pathogenic 627611 rs977118193 GRCh37: 15:48427094-48427094
GRCh38: 15:48134897-48134897
9 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) SNV Pathogenic 436742 rs1555452574 GRCh37: 15:48427119-48427119
GRCh38: 15:48134922-48134922
10 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.871+2T>C SNV Pathogenic 998232 GRCh37: 15:48429162-48429162
GRCh38: 15:48136965-48136965
11 MYEF2 , SLC24A5 NM_205850.3(SLC24A5):c.641del (p.Leu214fs) Deletion Pathogenic 440483 rs772398324 GRCh37: 15:48428930-48428930
GRCh38: 15:48136733-48136733

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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