MCID: ALB016
MIFTS: 23

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 57 29 6 73
Oca7 57 12 59 75
Oculocutaneous Albinism Type Vii 12 75
Oculocutaneous Albinism Type 7 59
Albinism, Oculocutaneous, 7 75

Characteristics:

Orphanet epidemiological data:

59
oculocutaneous albinism type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
tendency to lighter pigmentation than unaffected relatives


HPO:

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


Classifications:



External Ids:

OMIM 57 615179
Disease Ontology 12 DOID:0070100
Orphanet 59 ORPHA352745
ICD10 via Orphanet 34 E70.3
MeSH 44 D016115
UMLS 73 C3808786

Summaries for Albinism, Oculocutaneous, Type Vii

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated). Affiliated tissues include eye, skin and testes, and related phenotypes are photophobia and nystagmus

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.

Description from OMIM: 615179

Related Diseases for Albinism, Oculocutaneous, Type Vii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vii

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 nystagmus 32 HP:0000639
3 albinism 32 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 29 LRMDA

Anatomical Context for Albinism, Oculocutaneous, Type Vii

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

41
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.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776952 GRCh38 Chromosome 10, 76557271: 76557271
3 LRMDA NM_001305581.1(LRMDA): c.150dupC (p.Ala51Argfs) duplication Pathogenic rs587776953 GRCh37 Chromosome 10, 77795784: 77795784
4 LRMDA NM_001305581.1(LRMDA): c.150dupC (p.Ala51Argfs) duplication Pathogenic rs587776953 GRCh38 Chromosome 10, 76036026: 76036026
5 LRMDA NM_032024.4(LRMDA): c.267C> A (p.Asn89Lys) single nucleotide variant Likely pathogenic rs878854351 GRCh37 Chromosome 10, 77807014: 77807014
6 LRMDA NM_032024.4(LRMDA): c.267C> A (p.Asn89Lys) single nucleotide variant Likely pathogenic rs878854351 GRCh38 Chromosome 10, 76047256: 76047256
7 LRMDA NM_032024.4(LRMDA): c.109C> T (p.Leu37=) single nucleotide variant Likely benign rs147768808 GRCh37 Chromosome 10, 77795827: 77795827
8 LRMDA NM_032024.4(LRMDA): c.109C> T (p.Leu37=) single nucleotide variant Likely benign rs147768808 GRCh38 Chromosome 10, 76036069: 76036069
9 LRMDA NM_001305581.1(LRMDA): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs886043155 GRCh37 Chromosome 10, 77795890: 77795890
10 LRMDA NM_001305581.1(LRMDA): c.256C> T (p.Arg86Ter) single nucleotide variant Pathogenic rs886043155 GRCh38 Chromosome 10, 76036132: 76036132

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
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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