MCID: ALB015
MIFTS: 28

Albinism, Oculocutaneous, Type V

Categories: Eye diseases, Skin diseases, Metabolic diseases, Rare diseases, Genetic 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
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 oculocutaneous albinism, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type V is OCA5 (Oculocutaneous Albinism 5 (Autosomal Recessive)). The drugs chenodeoxycholic acid and Cathartics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are high palate and photophobia

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:

# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type vii 10.9
2 oculocutaneous albinism 9.9
3 albinism 9.9

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 photophobia 59 32 obligate (100%) Obligate (100%) HP:0000613
3 nystagmus 59 32 obligate (100%) Obligate (100%) HP:0000639
4 ocular albinism 59 32 obligate (100%) Obligate (100%) HP:0001107
5 reduced visual acuity 59 32 obligate (100%) Obligate (100%) HP:0007663
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

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 Cathartics Phase 3,Phase 1
3 Gastrointestinal Agents Phase 3,Phase 1
4 Laxatives 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, Liver

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

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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