MCID: ALB015
MIFTS: 27

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 54 29 13 69
Oculocutaneous Albinism Type 5 56
Oca5 56

Characteristics:

Orphanet epidemiological data:

56
oculocutaneous albinism type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Albinism, Oculocutaneous, Type V

OMIM : 54
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 oculocutaneous albinism type 5, is related to albinism, oculocutaneous, type vii and oculocutaneous albinism, and has symptoms including nystagmus, reduced visual acuity and 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.

Related Diseases for Albinism, Oculocutaneous, Type V

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Iv
Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

Diseases related to Albinism, Oculocutaneous, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type vii 10.8
2 oculocutaneous albinism 9.8
3 albinism 9.8

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type V

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
photophobia
albinotic fundus
foveal hypoplasia
depigmented iris
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:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 obligate (100%) Obligate (100%) HP:0000639
2 reduced visual acuity 56 32 obligate (100%) Obligate (100%) HP:0007663
3 photophobia 56 32 obligate (100%) Obligate (100%) HP:0000613
4 high palate 56 32 obligate (100%) Obligate (100%) HP:0000218
5 ocular albinism 56 32 obligate (100%) Obligate (100%) HP:0001107
6 hypoplasia of the fovea 56 32 obligate (100%) Obligate (100%) HP:0007750
7 albinism 32 HP:0001022
8 abnormality of the fundus 56 Obligate (100%)

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):


id 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:


id 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:

id 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:

39
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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