OCA7
MCID: ALB016
MIFTS: 40

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 57 29 6 73
Oca7 57 12 59 75
Oculocutaneous Albinism Type Vii 12 75 15
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, also known as oca7, is related to basal cell carcinoma, multiple and congenital nystagmus. An important gene associated with Albinism, Oculocutaneous, Type Vii is LRMDA (Leucine Rich Melanocyte Differentiation Associated), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. 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 congenital nystagmus 10.1 OCA2 TYR
3 acute contagious conjunctivitis 10.0 OCA2 TYR
4 microform holoprosencephaly 10.0 SHH SUFU
5 dyschromatosis symmetrica hereditaria 10.0 OCA2 TYR
6 keratocystic odontogenic tumor 10.0 SHH SUFU
7 adult medulloblastoma 10.0 SHH SUFU
8 infratentorial cancer 10.0 SHH SUFU
9 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0 TYR TYRP1
10 valproate embryopathy 10.0 GSR SHH
11 amelanotic melanoma 10.0 TYR TYRP1
12 dowling-degos disease 1 9.9 TYR TYRP1
13 pathologic nystagmus 9.9 OCA2 SLC45A2 TYR
14 hermansky-pudlak syndrome 3 9.9 TYR TYRP1
15 basal cell nevus syndrome 9.9 PTCH2 SHH SUFU
16 waardenburg syndrome, type 2a 9.9 TYR TYRP1
17 basal cell carcinoma 9.9 PTCH2 SHH SUFU
18 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 TYR TYRP1
19 strabismus 9.8 SLC24A5 TYR TYRP1
20 chediak-higashi syndrome 9.8 TYR TYRP1
21 hermansky-pudlak syndrome 1 9.8 OCA2 SLC24A5 SLC45A2 TYR
22 central nervous system cancer 9.8 SHH SUFU
23 vogt-koyanagi-harada disease 9.8 TYR TYRP1
24 microphthalmia 9.7 SHH TYR TYRP1
25 ocular albinism 9.6 OCA2 SLC45A2 TYR TYRP1
26 albinism, oculocutaneous, type iii 9.5 LRMDA OCA2 SLC45A2 TYR TYRP1
27 albinism, oculocutaneous, type ii 9.5 OCA2 SLC24A5 SLC45A2 TYR TYRP1
28 albinism 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
29 albinism, oculocutaneous, type ib 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
30 albinism, oculocutaneous, type ia 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
31 albinism, oculocutaneous, type iv 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
32 oculocutaneous albinism 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
33 albinism, oculocutaneous, type v 8.8 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Albinism, Oculocutaneous, Type Vii:

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

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

46 (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 homeostasis/metabolism MP:0005376 10.03 LRMDA OCA2 SHH SLC24A5 SLC45A2 SUFU
3 integument MP:0010771 10.01 OCA2 PTCH2 SHH SLC24A5 SLC45A2 SUFU
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 9.43 LRMDA 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 29 LRMDA

Anatomical Context for Albinism, Oculocutaneous, Type Vii

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

41
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
# 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

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

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.62 TYR TYRP1

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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