OCA5
MCID: ALB015
MIFTS: 46

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 58 30 13 41 74
Oca5 58 12 60
Oculocutaneous Albinism Type V 12 15
Oculocutaneous Albinism Type 5 60

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
albinism, oculocutaneous, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070099
OMIM 58 615312
ICD10 via Orphanet 35 E70.3
Orphanet 60 ORPHA370091
MedGen 43 C3888401
UMLS 74 C3888401

Summaries for Albinism, Oculocutaneous, Type V

OMIM : 58 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. The drugs chenodeoxycholic acid and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, 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 29.3 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
2 oculocutaneous albinism 29.2 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 albinism, oculocutaneous, type vii 28.8 LRMDA OCA2 OCA5 PTCH2 SHH SLC24A5
4 cone-rod dystrophy and hearing loss 2 11.1
5 congenital nystagmus 10.1 OCA2 TYR
6 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 TYR TYRP1
7 amelanotic melanoma 10.1 TYR TYRP1
8 basal cell carcinoma, multiple 10.1 PTCH2 SLC45A2
9 acute contagious conjunctivitis 10.1 OCA2 TYR
10 dowling-degos disease 1 10.1 TYR TYRP1
11 hermansky-pudlak syndrome 3 10.1 TYR TYRP1
12 waardenburg syndrome, type 2a 10.0 TYR TYRP1
13 dyschromatosis symmetrica hereditaria 10.0 OCA2 TYR
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYR TYRP1
15 pathologic nystagmus 9.9 OCA2 SLC45A2 TYR
16 strabismus 9.9 SLC24A5 TYR TYRP1
17 chediak-higashi syndrome 9.9 TYR TYRP1
18 microform holoprosencephaly 9.8 SHH SUFU
19 keratocystic odontogenic tumor 9.8 SHH SUFU
20 adult medulloblastoma 9.8 SHH SUFU
21 hermansky-pudlak syndrome 1 9.8 OCA2 SLC24A5 SLC45A2 TYR
22 vogt-koyanagi-harada disease 9.7 TYR TYRP1
23 ocular albinism 9.7 OCA2 SLC45A2 TYR TYRP1
24 microphthalmia 9.7 SHH TYR TYRP1
25 infratentorial cancer 9.7 SHH SUFU
26 albinism, oculocutaneous, type iii 9.5 LRMDA OCA2 SLC45A2 TYR TYRP1
27 basal cell nevus syndrome 9.5 PTCH2 SHH SUFU
28 basal cell carcinoma 9.5 PTCH2 SHH SUFU
29 albinism, oculocutaneous, type ib 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
30 albinism, oculocutaneous, type ia 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
31 albinism, oculocutaneous, type ii 9.3 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
32 albinism, oculocutaneous, type iv 9.1 LRMDA OCA2 SLC24A4 SLC24A5 SLC45A2 TYR

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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 obligate (100%) Obligate (100%) HP:0000218
2 nystagmus 60 33 obligate (100%) Obligate (100%) HP:0000639
3 photophobia 60 33 obligate (100%) Obligate (100%) HP:0000613
4 reduced visual acuity 60 33 obligate (100%) Obligate (100%) HP:0007663
5 ocular albinism 60 33 obligate (100%) Obligate (100%) HP:0001107
6 hypoplasia of the fovea 60 33 obligate (100%) Obligate (100%) HP:0007750
7 abnormal fundus morphology 60 Obligate (100%)
8 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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

Drugs for Albinism, Oculocutaneous, Type V (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 3,Phase 1 474-25-9 10133
2 Liver Extracts Phase 3
3 Laxatives Phase 3,Phase 1
4 Cathartics Phase 3,Phase 1
5 Gastrointestinal Agents Phase 3,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 3 Study of Obeticholic Acid in Patients With Primary Biliary Cirrhosis Completed NCT01473524 Phase 3 Obeticholic Acid (OCA);Placebo
2 Single Dose and Multiple Dose Trial to Assess Pharmacokinetics of Obeticholic Acid (OCA) Completed NCT01933503 Phase 1 OCA 5 mg;OCA 10 mg;OCA 25 mg
3 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search 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 30

Anatomical Context for Albinism, Oculocutaneous, Type V

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

42
Skin, Eye, Liver

Publications for Albinism, Oculocutaneous, Type V

Articles related to Albinism, Oculocutaneous, Type V:

# Title Authors Year
1
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. ( 23050561 )
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

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 SLC24A5 TYR TYRP1
2 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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 OCA2 SLC24A2 SLC24A4 SLC24A5
2 response to stimulus GO:0050896 9.85 SLC24A2 SLC24A4 SLC24A5 SLC45A2
3 visual perception GO:0007601 9.73 SLC24A2 SLC45A2 TYR
4 calcium ion transport GO:0006816 9.7 SLC24A2 SLC24A4 SLC24A5
5 potassium ion transport GO:0006813 9.69 SLC24A2 SLC24A4 SLC24A5
6 sodium ion transport GO:0006814 9.67 SLC24A2 SLC24A4 SLC24A5
7 calcium ion transmembrane transport GO:0070588 9.65 SLC24A2 SLC24A4 SLC24A5
8 cellular calcium ion homeostasis GO:0006874 9.61 SLC24A2 SLC24A4 SLC24A5
9 thymus development GO:0048538 9.58 SHH TYR
10 sodium ion transmembrane transport GO:0035725 9.58 SLC24A2 SLC24A4 SLC24A5
11 negative regulation of smoothened signaling pathway GO:0045879 9.54 PTCH2 SUFU
12 developmental pigmentation GO:0048066 9.46 OCA2 SLC45A2
13 skin development GO:0043588 9.43 PTCH2 SHH SUFU
14 spinal cord dorsal/ventral patterning GO:0021513 9.37 SHH SUFU
15 pigmentation GO:0043473 9.33 OCA2 TYR TYRP1
16 eye pigment biosynthetic process GO:0006726 9.32 OCA2 TYR
17 melanocyte differentiation GO:0030318 9.13 LRMDA OCA2 TYRP1
18 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR TYRP1

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 SLC24A2 SLC24A4 SLC24A5
2 calcium channel activity GO:0005262 9.33 SLC24A2 SLC24A4 SLC24A5
3 antiporter activity GO:0015297 9.13 SLC24A2 SLC24A4 SLC24A5
4 calcium, potassium:sodium antiporter activity GO:0008273 8.8 SLC24A2 SLC24A4 SLC24A5

Sources for Albinism, Oculocutaneous, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....