OCA7
MCID: ALB016
MIFTS: 41

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 58 30 6 74
Oca7 58 12 60 76
Oculocutaneous Albinism Type Vii 12 76 15
Oculocutaneous Albinism Type 7 60
Albinism, Oculocutaneous, 7 76

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
tendency to lighter pigmentation than unaffected relatives


HPO:

33
albinism, oculocutaneous, type vii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070100
OMIM 58 615179
MeSH 45 D016115
ICD10 via Orphanet 35 E70.3
Orphanet 60 ORPHA352745
UMLS 74 C3808786

Summaries for Albinism, Oculocutaneous, Type Vii

UniProtKB/Swiss-Prot : 76 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 basal cell carcinoma, multiple and microform holoprosencephaly. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Wnt / Hedgehog / Notch. 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.

Description from OMIM: 615179

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 33)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma, multiple 10.2 PTCH2 SLC45A2
2 microform holoprosencephaly 10.1 SHH SUFU
3 keratocystic odontogenic tumor 10.0 SHH SUFU
4 adult medulloblastoma 10.0 SHH SUFU
5 infratentorial cancer 9.9 SHH SUFU
6 valproate embryopathy 9.9 GSR SHH
7 basal cell nevus syndrome 9.9 PTCH2 SHH SUFU
8 basal cell carcinoma 9.9 PTCH2 SHH SUFU
9 congenital nystagmus 9.9 OCA2 TYR
10 acute contagious conjunctivitis 9.9 OCA2 TYR
11 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9 TYR TYRP1
12 amelanotic melanoma 9.9 TYR TYRP1
13 dowling-degos disease 1 9.8 TYR TYRP1
14 hermansky-pudlak syndrome 3 9.8 TYR TYRP1
15 waardenburg syndrome, type 2a 9.8 TYR TYRP1
16 dyschromatosis symmetrica hereditaria 9.8 OCA2 TYR
17 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 TYR TYRP1
18 central nervous system cancer 9.7 SHH SUFU
19 pathologic nystagmus 9.7 OCA2 SLC45A2 TYR
20 strabismus 9.7 SLC24A5 TYR TYRP1
21 chediak-higashi syndrome 9.7 TYR TYRP1
22 vogt-koyanagi-harada disease 9.6 TYR TYRP1
23 hermansky-pudlak syndrome 1 9.5 OCA2 SLC24A5 SLC45A2 TYR
24 microphthalmia 9.5 SHH TYR TYRP1
25 ocular albinism 9.4 OCA2 SLC45A2 TYR TYRP1
26 albinism, oculocutaneous, type iii 9.2 LRMDA OCA2 SLC45A2 TYR TYRP1
27 albinism, oculocutaneous, type ii 9.2 OCA2 SLC24A5 SLC45A2 TYR TYRP1
28 albinism 9.1 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
29 albinism, oculocutaneous, type ib 9.1 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
30 albinism, oculocutaneous, type ia 9.1 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
31 albinism, oculocutaneous, type iv 9.1 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
32 oculocutaneous albinism 9.1 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
33 albinism, oculocutaneous, type v 8.2 LRMDA OCA2 OCA5 PTCH2 SHH SLC24A5

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:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 photophobia 33 HP:0000613
3 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
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:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.04 LRMDA OCA2 SHH SLC24A5 SLC45A2 TYR
2 integument MP:0010771 10.01 OCA2 PTCH2 SHH SLC24A5 SLC45A2 SUFU
3 homeostasis/metabolism MP:0005376 9.98 OCA2 SHH SLC24A5 SLC45A2 SUFU TYR
4 craniofacial MP:0005382 9.95 OCA2 SHH SLC24A5 SUFU TYR TYRP1
5 hearing/vestibular/ear MP:0005377 9.85 OCA2 SHH SLC24A5 TYR TYRP1
6 normal MP:0002873 9.8 GSR OCA2 PTCH2 SHH SUFU TYR
7 neoplasm MP:0002006 9.77 PTCH2 SHH SUFU TYR TYRP1
8 pigmentation MP:0001186 9.73 OCA2 SLC24A5 SLC45A2 SUFU TYR TYRP1
9 reproductive system MP:0005389 9.63 OCA2 PTCH2 SHH SLC45A2 TYR TYRP1
10 skeleton MP:0005390 9.35 OCA2 SHH SUFU TYR TYRP1
11 vision/eye MP:0005391 9.23 GSR OCA2 SHH SLC24A5 SLC45A2 SUFU

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 30 LRMDA

Anatomical Context for Albinism, Oculocutaneous, Type Vii

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

42
Skin, Eye, Testes

Publications for Albinism, Oculocutaneous, Type Vii

Articles related to Albinism, Oculocutaneous, Type Vii:

# Title Authors Year
1
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. ( 23395477 )
2013

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.150dup (p.Ala51Argfs) duplication Pathogenic rs587776953 GRCh37 Chromosome 10, 77795784: 77795784
4 LRMDA NM_001305581.1(LRMDA): c.150dup (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 Conflicting interpretations of pathogenicity rs147768808 GRCh37 Chromosome 10, 77795827: 77795827
8 LRMDA NM_032024.4(LRMDA): c.109C> T (p.Leu37=) single nucleotide variant Conflicting interpretations of pathogenicity rs147768808 GRCh38 Chromosome 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

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 9.13 SLC24A5 TYR TYRP1
2 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.49 PTCH2 SHH
2 heart looping GO:0001947 9.48 SHH SUFU
3 thymus development GO:0048538 9.46 SHH TYR
4 negative regulation of smoothened signaling pathway GO:0045879 9.43 PTCH2 SUFU
5 skin development GO:0043588 9.43 PTCH2 SHH SUFU
6 developmental pigmentation GO:0048066 9.4 OCA2 SLC45A2
7 spinal cord dorsal/ventral patterning GO:0021513 9.37 SHH SUFU
8 pigmentation GO:0043473 9.33 OCA2 TYR TYRP1
9 eye pigment biosynthetic process GO:0006726 9.32 OCA2 TYR
10 melanocyte differentiation GO:0030318 9.13 LRMDA OCA2 TYRP1
11 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR TYRP1

Sources for Albinism, Oculocutaneous, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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