MCID: ALB016
MIFTS: 25

Albinism, Oculocutaneous, Type Vii

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Vii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vii:

Name: Albinism, Oculocutaneous, Type Vii 54 29 69
Oca7 24 56 71
Oculocutaneous Albinism Type 7 24 56
Albinism, Oculocutaneous,type Vii 24
Oculocutaneous Albinism Type Vii 71
Albinism, Oculocutaneous, 7 71

Characteristics:

Orphanet epidemiological data:

56
oculocutaneous albinism type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Miscellaneous:
tendency to lighter pigmentation than unaffected relatives

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 615179
Orphanet 56 ORPHA352745
ICD10 via Orphanet 34 E70.3
MeSH 42 D016115

Summaries for Albinism, Oculocutaneous, Type Vii

UniProtKB/Swiss-Prot : 71 Albinism, oculocutaneous, 7: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

MalaCards based summary : Albinism, Oculocutaneous, Type Vii, also known as oca7, is related to paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, and has symptoms including nystagmus, photophobia and albinism. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated). Affiliated tissues include skin, eye and testes.

Description from OMIM: 615179

Related Diseases for Albinism, Oculocutaneous, Type Vii

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 Vii via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 9.5 LRMDA OCA5

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vii

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
pale blond to light brown

Head And Neck- Eyes:
crossed asymmetry of cortical visual response on visual evoked potential testing
photophobia, mild
transillumination of the iris
sparse pigmentation of the peripheral ocular fundus
nystagmus

Skin Nails & Hair- Skin:
light complexion


Clinical features from OMIM:

615179

Human phenotypes related to Albinism, Oculocutaneous, Type Vii:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 photophobia 32 HP:0000613
3 albinism 32 HP:0001022

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Vii

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Vii

Genetic Tests for Albinism, Oculocutaneous, Type Vii

Genetic tests related to Albinism, Oculocutaneous, Type Vii:

id Genetic test Affiliating Genes
1 Albinism, Oculocutaneous, Type Vii 29
2 Oculocutaneous Albinism Type 7 24 LRMDA

Anatomical Context for Albinism, Oculocutaneous, Type Vii

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

39
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Vii

Variations for Albinism, Oculocutaneous, Type Vii

ClinVar genetic disease variations for Albinism, Oculocutaneous, Type Vii:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRMDA NM_001305581.1(LRMDA): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776952 GRCh37 Chromosome 10, 78317029: 78317029
2 LRMDA NM_001305581.1(LRMDA): c.150dupC (p.Ala51Argfs) duplication Pathogenic rs587776953 GRCh37 Chromosome 10, 77795784: 77795784
3 LRMDA NM_032024.4(LRMDA): c.267C> A (p.Asn89Lys) single nucleotide variant Likely pathogenic rs878854351 GRCh38 Chromosome 10, 76047256: 76047256
4 LRMDA NM_001305581.1(LRMDA): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs886043155 GRCh37 Chromosome 10, 77795890: 77795890

Expression for Albinism, Oculocutaneous, Type Vii

Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Vii.

Pathways for Albinism, Oculocutaneous, Type Vii

GO Terms for Albinism, Oculocutaneous, Type Vii

Sources for Albinism, Oculocutaneous, Type Vii

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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