OCA5
MCID: ALB015
MIFTS: 36

Albinism, Oculocutaneous, Type V (OCA5)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type V

MalaCards integrated aliases for Albinism, Oculocutaneous, Type V:

Name: Albinism, Oculocutaneous, Type V 56 29 39 71
Oca5 56 12 58
Oculocutaneous Albinism Type V 12 15
Oculocutaneous Albinism Type 5 58

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani family reported (last curated august 2013)


HPO:

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


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0070099
OMIM 56 615312
OMIM Phenotypic Series 56 PS203100
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA370091
MedGen 41 C3888401
UMLS 71 C3888401

Summaries for Albinism, Oculocutaneous, Type V

OMIM : 56 Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). (615312)

MalaCards based summary : Albinism, Oculocutaneous, Type V, also known as oca5, is related to syndromic oculocutaneous albinism and oculocutaneous albinism, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type V is OCA5 (Oculocutaneous Albinism 5 (Autosomal Recessive)), and among its related pathways/superpathways are Tyrosine metabolism and Melanin biosynthesis. Affiliated tissues include skin and eye, and related phenotypes are nystagmus and high palate

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA5 on chromosome 4q24.

Related Diseases for Albinism, Oculocutaneous, Type V

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 V via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 29, show less)
# Related Disease Score Top Affiliating Genes
1 syndromic oculocutaneous albinism 32.2 SLC24A5 OCA5 OCA2
2 oculocutaneous albinism 30.3 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
3 albinism, oculocutaneous, type vii 30.1 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA GPR143
4 albinism 29.6 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
5 ichthyosis, congenital, autosomal recessive 11 9.9 SLC45A2 SLC24A5
6 aland island eye disease 9.9 LRMDA GPR143
7 ochronosis 9.9 TYRP1 TYR
8 dowling-degos disease 1 9.9 TYRP1 TYR
9 amelanotic melanoma 9.8 TYRP1 TYR
10 vogt-koyanagi-harada disease 9.7 TYRP1 TYR
11 autosomal recessive congenital ichthyosis 9.7 SLC45A2 SLC24A5 OCA2
12 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6 TYRP1 TYR
13 congenital nystagmus 9.5 TYR OCA2 GPR143
14 chediak-higashi syndrome 9.5 TYRP1 TYR
15 acute contagious conjunctivitis 9.3 TYRP1 TYR SLC45A2 OCA2
16 acute conjunctivitis 9.3 TYRP1 TYR SLC45A2 OCA2
17 tietz albinism-deafness syndrome 9.3 TYRP1 TYR SLC45A2 OCA2
18 piebald trait 9.3 TYRP1 TYR SLC45A2 OCA2
19 melanoma, cutaneous malignant 1 9.3 TYRP1 TYR SLC45A2 OCA2
20 melanoma 9.3 TYRP1 TYR SLC45A2 OCA2
21 hermansky-pudlak syndrome 9.2 TYRP1 TYR SLC45A2 OCA2
22 strabismus 9.1 TYRP1 TYR SLC24A5 GPR143
23 albinism, oculocutaneous, type ii 9.0 TYRP1 TYR SLC45A2 SLC24A5 OCA2
24 pathologic nystagmus 8.6 TYRP1 TYR SLC45A2 OCA2 LRMDA GPR143
25 ocular albinism 8.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
26 albinism, oculocutaneous, type ib 8.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
27 albinism, oculocutaneous, type iv 8.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
28 albinism, oculocutaneous, type iii 8.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
29 albinism, oculocutaneous, type ia 8.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA

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



Diseases related to Albinism, Oculocutaneous, Type V

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type V

Human phenotypes related to Albinism, Oculocutaneous, Type V:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 obligate (100%) Obligate (100%) HP:0000639
2 high palate 58 31 obligate (100%) Obligate (100%) HP:0000218
3 photophobia 58 31 obligate (100%) Obligate (100%) HP:0000613
4 reduced visual acuity 58 31 obligate (100%) Obligate (100%) HP:0007663
5 ocular albinism 58 31 obligate (100%) Obligate (100%) HP:0001107
6 hypoplasia of the fovea 58 31 obligate (100%) Obligate (100%) HP:0007750
7 abnormal fundus morphology 58 Obligate (100%)
8 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
photophobia
foveal hypoplasia
impaired visual acuity
depigmented iris
more
Skin Nails Hair Hair:
golden-colored hair

Skin Nails Hair Skin:
white skin

Clinical features from OMIM:

615312

UMLS symptoms related to Albinism, Oculocutaneous, Type V:


photophobia

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type V:

45 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 LRMDA OCA2 SLC24A2 SLC24A5 SLC45A2 TYR
2 hearing/vestibular/ear MP:0005377 9.56 OCA2 SLC24A5 TYR TYRP1
3 integument MP:0010771 9.55 OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 pigmentation MP:0001186 9.43 GPR143 OCA2 SLC24A5 SLC45A2 TYR TYRP1
5 vision/eye MP:0005391 9.17 GPR143 OCA2 SLC24A2 SLC24A5 SLC45A2 TYR

Drugs & Therapeutics for Albinism, Oculocutaneous, Type V

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

Genetic Tests for Albinism, Oculocutaneous, Type V

Genetic tests related to Albinism, Oculocutaneous, Type V:

# Genetic test Affiliating Genes
1 Albinism, Oculocutaneous, Type V 29

Anatomical Context for Albinism, Oculocutaneous, Type V

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

40
Skin, Eye

Publications for Albinism, Oculocutaneous, Type V

Articles related to Albinism, Oculocutaneous, Type V:

(showing 6, show less)
# Title Authors PMID Year
1
Increasing the complexity: new genes and new types of albinism. 61 56
24066960 2014
2
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. 61 56
23050561 2013
3
Genetic diseases associated with an increased risk of skin cancer development in childhood. 61
28525403 2017
4
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. 61
28507374 2017
5
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
6
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 61
23364476 2013

Variations for Albinism, Oculocutaneous, Type V

Expression for Albinism, Oculocutaneous, Type V

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

Pathways for Albinism, Oculocutaneous, Type V

Pathways related to Albinism, Oculocutaneous, Type V according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.84 TYRP1 TYR
2 9.62 TYRP1 TYR SLC45A2 OCA2

GO Terms for Albinism, Oculocutaneous, Type V

Cellular components related to Albinism, Oculocutaneous, Type V according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.26 TYRP1 TYR SLC24A5 GPR143
2 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 GPR143

Biological processes related to Albinism, Oculocutaneous, Type V according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 TYR SLC45A2 SLC24A2 GPR143
2 sodium ion transmembrane transport GO:0035725 9.46 SLC24A5 SLC24A2
3 anion transmembrane transport GO:0098656 9.43 SLC24A5 SLC24A2
4 pigmentation GO:0043473 9.43 TYRP1 TYR OCA2
5 melanosome organization GO:0032438 9.4 TYRP1 GPR143
6 developmental pigmentation GO:0048066 9.37 SLC45A2 OCA2
7 eye pigment biosynthetic process GO:0006726 9.33 TYR OCA2 GPR143
8 melanocyte differentiation GO:0030318 9.26 TYRP1 SLC24A5 OCA2 LRMDA
9 melanin biosynthetic process GO:0042438 8.92 TYRP1 TYR SLC45A2 OCA2

Molecular functions related to Albinism, Oculocutaneous, Type V according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.16 SLC24A5 SLC24A2
2 calcium, potassium:sodium antiporter activity GO:0008273 8.96 SLC24A5 SLC24A2
3 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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