OCA5
MCID: ALB015
MIFTS: 42

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 13 40 73
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:

OMIM 57 615312
Disease Ontology 12 DOID:0070099
Orphanet 59 ORPHA370091
ICD10 via Orphanet 34 E70.3
MedGen 42 C3888401
UMLS 73 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, oculocutaneous, type vii and 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 / Hedgehog / Notch and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. The drugs chenodeoxycholic acid and Laxatives have been mentioned in the context of this disorder. 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, oculocutaneous, type vii 29.8 LRMDA OCA2 OCA5 PTCH2 SHH SLC24A5
2 albinism 29.6 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 oculocutaneous albinism 29.5 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 perrault syndrome 1 11.1
5 basal cell carcinoma, multiple 10.1 PTCH2 SLC45A2
6 congenital nystagmus 10.1 OCA2 TYR
7 acute contagious conjunctivitis 10.0 OCA2 TYR
8 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 TYR TYRP1
9 amelanotic melanoma 10.0 TYR TYRP1
10 dowling-degos disease 1 10.0 TYR TYRP1
11 hermansky-pudlak syndrome 3 10.0 TYR TYRP1
12 dyschromatosis symmetrica hereditaria 10.0 OCA2 TYR
13 waardenburg syndrome, type 2a 10.0 TYR TYRP1
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYR TYRP1
15 pathologic nystagmus 10.0 OCA2 SLC45A2 TYR
16 strabismus 9.9 SLC24A5 TYR TYRP1
17 microform holoprosencephaly 9.9 SHH SUFU
18 chediak-higashi syndrome 9.9 TYR TYRP1
19 keratocystic odontogenic tumor 9.9 SHH SUFU
20 hermansky-pudlak syndrome 1 9.9 OCA2 SLC24A5 SLC45A2 TYR
21 adult medulloblastoma 9.9 SHH SUFU
22 vogt-koyanagi-harada disease 9.8 TYR TYRP1
23 infratentorial cancer 9.8 SHH SUFU
24 ocular albinism 9.8 OCA2 SLC45A2 TYR TYRP1
25 microphthalmia 9.7 SHH TYR TYRP1
26 albinism, oculocutaneous, type iii 9.7 LRMDA OCA2 SLC45A2 TYR TYRP1
27 basal cell nevus syndrome 9.7 PTCH2 SHH SUFU
28 basal cell carcinoma 9.7 PTCH2 SHH SUFU
29 albinism, oculocutaneous, type ib 9.6 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
30 albinism, oculocutaneous, type ia 9.6 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
31 albinism, oculocutaneous, type ii 9.5 OCA2 SLC24A4 SLC24A5 SLC45A2 TYR TYRP1
32 albinism, oculocutaneous, type iv 9.4 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

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

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 abnormality of the fundus 59 Obligate (100%)
8 albinism 32 HP:0001022

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 homeostasis/metabolism MP:0005376 10.16 LRMDA OCA2 SHH SLC24A2 SLC24A4 SLC24A5
2 behavior/neurological MP:0005386 10.13 LRMDA OCA2 SHH SLC24A2 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 9.5 LRMDA OCA2 SHH SLC24A4 SUFU TYR
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 Laxatives Phase 3,Phase 1
3 Gastrointestinal Agents Phase 3,Phase 1
4 Cathartics Phase 3,Phase 1
5 Liver Extracts Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 3 Study of Obeticholic Acid in Patients With Primary Biliary Cirrhosis Active, not recruiting 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 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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