MCID: ALB016
MIFTS: 23

Albinism, Oculocutaneous, Type Vii

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Vii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vii:

Name: Albinism, Oculocutaneous, Type Vii 53 28 69
Oca7 53 55 71
Oculocutaneous Albinism Type Vii 71
Oculocutaneous Albinism Type 7 55
Albinism, Oculocutaneous, 7 71

Characteristics:

Orphanet epidemiological data:

55
oculocutaneous albinism type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
tendency to lighter pigmentation than unaffected relatives


HPO:

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


Classifications:



External Ids:

OMIM 53 615179
Orphanet 55 ORPHA352745
ICD10 via Orphanet 33 E70.3
MeSH 41 D016115
UMLS 69 C3808786

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, is also known as oca7, and has symptoms including photophobia, nystagmus and albinism. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated). Affiliated tissues include eye, skin and testes.

Description from OMIM: 615179

Related Diseases for Albinism, Oculocutaneous, Type Vii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vii

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus
transillumination of the iris
sparse pigmentation of the peripheral ocular fundus
crossed asymmetry of cortical visual response on visual evoked potential testing
photophobia, mild

Skin Nails Hair Hair:
pale blond to light brown

Skin Nails Hair Skin:
light complexion


Clinical features from OMIM:

615179

Human phenotypes related to Albinism, Oculocutaneous, Type Vii:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 nystagmus 31 HP:0000639
3 albinism 31 HP:0001022

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Vii

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Albinism, Oculocutaneous, Type Vii 28 LRMDA

Anatomical Context for Albinism, Oculocutaneous, Type Vii

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

38
Eye, Skin, Testes

Publications for Albinism, Oculocutaneous, Type Vii

Variations for Albinism, Oculocutaneous, Type Vii

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

6
# 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 GRCh37 Chromosome 10, 77807014: 77807014
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
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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