OCA5
MCID: ALB015
MIFTS: 39

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 57 29 40 72
Oca5 57 12 59
Oculocutaneous Albinism Type V 12 15
Oculocutaneous Albinism Type 5 59

Characteristics:

Orphanet epidemiological data:

59
oculocutaneous albinism type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
albinism, oculocutaneous, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070099
ICD10 via Orphanet 34 E70.3
Orphanet 59 ORPHA370091
MedGen 42 C3888401
UMLS 72 C3888401

Summaries for Albinism, Oculocutaneous, Type V

OMIM : 57 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 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 Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Wnt / Hedgehog / Notch. Affiliated tissues include skin and eye, and related phenotypes are high palate and nystagmus

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:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
2 oculocutaneous albinism 28.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
3 albinism, oculocutaneous, type vii 27.2 TYRP1 TYR SUFU SLC45A2 SLC24A5 SHH
4 syndromic oculocutaneous albinism 11.6
5 basal cell carcinoma, multiple 10.2 SLC45A2 PTCH2
6 microform holoprosencephaly 9.9 SUFU SHH
7 congenital nystagmus 9.9 TYR OCA2
8 keratocystic odontogenic tumor 9.9 SUFU SHH
9 acute contagious conjunctivitis 9.8 TYR OCA2
10 vitiligo-associated multiple autoimmune disease susceptibility 6 9.8 TYRP1 TYR
11 adult medulloblastoma 9.8 SUFU SHH
12 amelanotic melanoma 9.8 TYRP1 TYR
13 dowling-degos disease 1 9.8 TYRP1 TYR
14 hermansky-pudlak syndrome 3 9.8 TYRP1 TYR
15 dyschromatosis symmetrica hereditaria 9.7 TYR OCA2
16 waardenburg syndrome, type 2a 9.7 TYRP1 TYR
17 infratentorial cancer 9.7 SUFU SHH
18 pathologic nystagmus 9.6 TYR SLC45A2 OCA2
19 strabismus 9.5 TYRP1 TYR SLC24A5
20 vitiligo-associated multiple autoimmune disease susceptibility 1 9.5 TYRP1 TYR
21 basal cell nevus syndrome 9.5 SUFU SHH PTCH2
22 basal cell carcinoma 9.5 SUFU SHH PTCH2
23 chediak-higashi syndrome 9.4 TYRP1 TYR
24 hermansky-pudlak syndrome 1 9.3 TYR SLC45A2 SLC24A5 OCA2
25 vogt-koyanagi-harada disease 9.3 TYRP1 TYR
26 ocular albinism 9.2 TYRP1 TYR SLC45A2 OCA2
27 microphthalmia 9.1 TYRP1 TYR SHH
28 albinism, oculocutaneous, type iii 8.9 TYRP1 TYR SLC45A2 OCA2 LRMDA
29 albinism, oculocutaneous, type ib 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
30 albinism, oculocutaneous, type ia 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
31 albinism, oculocutaneous, type ii 8.5 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2
32 albinism, oculocutaneous, type iv 8.3 TYRP1 TYR SLC45A2 SLC24A5 SLC24A4 OCA2

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 obligate (100%) Obligate (100%) HP:0000218
2 nystagmus 59 32 obligate (100%) Obligate (100%) HP:0000639
3 photophobia 59 32 obligate (100%) Obligate (100%) HP:0000613
4 reduced visual acuity 59 32 obligate (100%) Obligate (100%) HP:0007663
5 ocular albinism 59 32 obligate (100%) Obligate (100%) HP:0001107
6 hypoplasia of the fovea 59 32 obligate (100%) Obligate (100%) HP:0007750
7 abnormal fundus morphology 59 Obligate (100%)
8 albinism 32 HP:0001022

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
albinotic fundus
foveal hypoplasia
impaired visual acuity
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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 LRMDA OCA2 SHH SLC24A2 SLC24A5 SLC45A2
2 homeostasis/metabolism MP:0005376 10.11 OCA2 SHH SLC24A2 SLC24A4 SLC24A5 SLC45A2
3 growth/size/body region MP:0005378 10.1 OCA2 SHH SLC24A4 SLC24A5 SLC45A2 SUFU
4 craniofacial MP:0005382 10.05 OCA2 SHH SLC24A4 SLC24A5 SUFU TYR
5 integument MP:0010771 10.01 OCA2 PTCH2 SHH SLC24A5 SLC45A2 SUFU
6 immune system MP:0005387 9.98 LRMDA OCA2 PTCH2 SHH SLC24A4 SUFU
7 nervous system MP:0003631 9.92 PTCH2 SHH SLC24A2 SLC24A4 SLC24A5 SUFU
8 hearing/vestibular/ear MP:0005377 9.88 OCA2 SHH SLC24A5 TYR TYRP1
9 neoplasm MP:0002006 9.77 PTCH2 SHH SUFU TYR TYRP1
10 pigmentation MP:0001186 9.73 OCA2 SLC24A5 SLC45A2 SUFU TYR TYRP1
11 reproductive system MP:0005389 9.63 OCA2 PTCH2 SHH SLC45A2 TYR TYRP1
12 skeleton MP:0005390 9.43 OCA2 SHH SLC24A4 SUFU TYR TYRP1
13 vision/eye MP:0005391 9.23 OCA2 SHH SLC24A2 SLC24A5 SLC45A2 SUFU

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:

41
Skin, Eye

Publications for Albinism, Oculocutaneous, Type V

Articles related to Albinism, Oculocutaneous, Type V:

# Title Authors PMID Year
1
Increasing the complexity: new genes and new types of albinism. 38 8
24066960 2014
2
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. 38 8
23050561 2013
3
Genetic diseases associated with an increased risk of skin cancer development in childhood. 38
28525403 2017
4
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. 38
28507374 2017
5
Mutational analysis of oculocutaneous albinism: a compact review. 38
25093188 2014
6
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 38
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 SUFU SHH PTCH2
2 11.59 SUFU SHH PTCH2
3
Show member pathways
10.73 SHH PTCH2
4 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:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.13 TYRP1 TYR SLC24A5
2 melanosome membrane GO:0033162 8.92 TYRP1 TYR SLC45A2 OCA2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.87 SLC24A5 SLC24A4 SLC24A2 OCA2
2 response to stimulus GO:0050896 9.85 SLC45A2 SLC24A5 SLC24A4 SLC24A2
3 visual perception GO:0007601 9.73 TYR SLC45A2 SLC24A2
4 calcium ion transport GO:0006816 9.7 SLC24A5 SLC24A4 SLC24A2
5 potassium ion transport GO:0006813 9.69 SLC24A5 SLC24A4 SLC24A2
6 sodium ion transport GO:0006814 9.67 SLC24A5 SLC24A4 SLC24A2
7 calcium ion transmembrane transport GO:0070588 9.65 SLC24A5 SLC24A4 SLC24A2
8 cellular calcium ion homeostasis GO:0006874 9.61 SLC24A5 SLC24A4 SLC24A2
9 thymus development GO:0048538 9.58 TYR SHH
10 sodium ion transmembrane transport GO:0035725 9.58 SLC24A5 SLC24A4 SLC24A2
11 negative regulation of smoothened signaling pathway GO:0045879 9.54 SUFU PTCH2
12 developmental pigmentation GO:0048066 9.46 SLC45A2 OCA2
13 skin development GO:0043588 9.43 SUFU SHH PTCH2
14 spinal cord dorsal/ventral patterning GO:0021513 9.37 SUFU SHH
15 pigmentation GO:0043473 9.33 TYRP1 TYR OCA2
16 eye pigment biosynthetic process GO:0006726 9.32 TYR OCA2
17 melanocyte differentiation GO:0030318 9.13 TYRP1 OCA2 LRMDA
18 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:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.43 SLC24A5 SLC24A4 SLC24A2
2 calcium channel activity GO:0005262 9.33 SLC24A5 SLC24A4 SLC24A2
3 antiporter activity GO:0015297 9.13 SLC24A5 SLC24A4 SLC24A2
4 calcium, potassium:sodium antiporter activity GO:0008273 8.8 SLC24A5 SLC24A4 SLC24A2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....