OCA7
MCID: ALB016
MIFTS: 34

Albinism, Oculocutaneous, Type Vii (OCA7)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Vii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Vii:

Name: Albinism, Oculocutaneous, Type Vii 56 29 6 71
Oca7 56 12 58 73
Oculocutaneous Albinism Type Vii 12 73 15
Oculocutaneous Albinism Type 7 58
Albinism, Oculocutaneous, 7 73

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
tendency to lighter pigmentation than unaffected relatives


HPO:

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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070100
OMIM 56 615179
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA352745
UMLS 71 C3808786

Summaries for Albinism, Oculocutaneous, Type Vii

UniProtKB/Swiss-Prot : 73 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 oculocutaneous albinism and albinism. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated), and among its related pathways/superpathways is Melanin biosynthesis. Affiliated tissues include skin, eye and testes, and related phenotypes are nystagmus and photophobia

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

More information from OMIM: 615179 PS203100

Related Diseases for Albinism, Oculocutaneous, Type Vii

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 28.1 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA
2 albinism 27.6 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA GPR143
3 aland island eye disease 9.9 LRMDA GPR143
4 ichthyosis, congenital, autosomal recessive 11 9.6 SLC45A2 SLC24A5
5 acute contagious conjunctivitis 9.6 SLC45A2 OCA2
6 acute conjunctivitis 9.5 SLC45A2 OCA2
7 congenital nystagmus 9.5 OCA2 GPR143
8 tietz albinism-deafness syndrome 9.5 SLC45A2 OCA2
9 piebald trait 9.3 SLC45A2 OCA2
10 syndromic oculocutaneous albinism 9.3 SLC24A5 OCA5 OCA2
11 albinism, oculocutaneous, type ii 9.2 SLC45A2 SLC24A5 OCA2
12 melanoma, cutaneous malignant 1 9.2 SLC45A2 OCA2
13 autosomal recessive congenital ichthyosis 9.1 SLC45A2 SLC24A5 OCA2
14 pathologic nystagmus 8.9 SLC45A2 OCA2 LRMDA GPR143
15 albinism, oculocutaneous, type ia 8.6 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
16 albinism, oculocutaneous, type ib 8.6 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
17 albinism, oculocutaneous, type iv 8.5 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
18 albinism, oculocutaneous, type iii 8.5 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
19 ocular albinism 8.5 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
20 albinism, oculocutaneous, type v 8.2 SLC45A2 SLC24A5 OCA5 OCA2 LRMDA GPR143

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Vii:



Diseases related to Albinism, Oculocutaneous, Type Vii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Vii

Human phenotypes related to Albinism, Oculocutaneous, Type Vii:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
photophobia, mild
transillumination of the iris
sparse pigmentation of the peripheral ocular fundus
crossed asymmetry of cortical visual response on visual evoked potential testing

Skin Nails Hair Hair:
pale blond to light brown

Skin Nails Hair Skin:
light complexion

Clinical features from OMIM:

615179

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Vii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 GPR143 OCA2 SLC24A5 SLC45A2

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Vii

Search Clinical Trials , 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:

40
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Vii

Articles related to Albinism, Oculocutaneous, Type Vii:

# Title Authors PMID Year
1
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. 6 56
23395477 2013
2
Increasing the complexity: new genes and new types of albinism. 56 61
24066960 2014
3
Treating Helicobacter pylori infection in the face of growing antibiotic resistance. 61
31476871 2019
4
Genetic diseases associated with an increased risk of skin cancer development in childhood. 61
28525403 2017
5
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
6
[Use of the immunopotentiator N-acetyl-glucosamine-N-acetylmuramyl dipeptide during triple anti-Helicobacter pylori therapy]. 61
23479993 2012
7
[Cost-effectiveness analysis of 2 strategies of Helicobacter pylori eradication: results of a prospective and randomized study in primary care]. 61
10953829 2000
8
Two-week dual vs. one-week triple therapy for cure of Helicobacter pylori infection in primary care: a multicentre, randomized trial. 61
10383508 1999

Variations for Albinism, Oculocutaneous, Type Vii

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRMDA NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter)SNV Pathogenic 41916 rs587776952 10:78317029-78317029 10:76557271-76557271
2 LRMDA NM_001305581.2(LRMDA):c.150dup (p.Ala51fs)duplication Pathogenic 41917 rs587776953 10:77795784-77795784 10:76036026-76036026
3 LRMDA NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys)SNV Likely pathogenic 209972 rs878854351 10:77807014-77807014 10:76047256-76047256
4 LRMDA NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)SNV Conflicting interpretations of pathogenicity 261986 rs147768808 10:77795827-77795827 10:76036069-76036069

Expression for Albinism, Oculocutaneous, Type Vii

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

Pathways for Albinism, Oculocutaneous, Type Vii

Pathways related to Albinism, Oculocutaneous, Type Vii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.32 SLC45A2 OCA2

GO Terms for Albinism, Oculocutaneous, Type Vii

Cellular components related to Albinism, Oculocutaneous, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.96 SLC24A5 GPR143
2 melanosome membrane GO:0033162 8.8 SLC45A2 OCA2 GPR143

Biological processes related to Albinism, Oculocutaneous, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanin biosynthetic process GO:0042438 9.26 SLC45A2 OCA2
2 developmental pigmentation GO:0048066 9.16 SLC45A2 OCA2
3 eye pigment biosynthetic process GO:0006726 8.96 OCA2 GPR143
4 melanocyte differentiation GO:0030318 8.8 SLC24A5 OCA2 LRMDA

Sources for Albinism, Oculocutaneous, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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