MCID: ALB015
MIFTS: 28

Albinism, Oculocutaneous, Type V

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type V

MalaCards integrated aliases for Albinism, Oculocutaneous, Type V:

Name: Albinism, Oculocutaneous, Type V 53 28 13 69
Oca5 53 55
Oculocutaneous Albinism Type 5 55

Characteristics:

Orphanet epidemiological data:

55
oculocutaneous albinism type 5
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
albinism, oculocutaneous, type v:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 615312
Orphanet 55 ORPHA370091
ICD10 via Orphanet 33 E70.3
MedGen 39 C3888401
UMLS 69 C3888401

Summaries for Albinism, Oculocutaneous, Type V

OMIM : 53 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, high palate and nystagmus. 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 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:

53
Head And Neck Eyes:
photophobia
nystagmus
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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 obligate (100%) Obligate (100%) HP:0000613
2 high palate 55 31 obligate (100%) Obligate (100%) HP:0000218
3 nystagmus 55 31 obligate (100%) Obligate (100%) HP:0000639
4 reduced visual acuity 55 31 obligate (100%) Obligate (100%) HP:0007663
5 ocular albinism 55 31 obligate (100%) Obligate (100%) HP:0001107
6 hypoplasia of the fovea 55 31 obligate (100%) Obligate (100%) HP:0007750
7 abnormality of the fundus 55 Obligate (100%)
8 albinism 31 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 28

Anatomical Context for Albinism, Oculocutaneous, Type V

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

38
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

Sources for Albinism, Oculocutaneous, Type V

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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