OCA7
MCID: ALB016
MIFTS: 38

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 39 70
Oca7 57 12 58 72
Oculocutaneous Albinism Type Vii 12 72 15
Oculocutaneous Albinism Type 7 58
Albinism, Oculocutaneous, 7 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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® 57 615179
OMIM Phenotypic Series 57 PS203100
MeSH 44 D016115
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA352745
UMLS 70 C3808786

Summaries for Albinism, Oculocutaneous, Type Vii

UniProtKB/Swiss-Prot : 72 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 are Phenylalanine metabolism and Melanin biosynthesis. Affiliated tissues include eye and skin, 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
Oculocutaneous Albinism, Type Viii

Diseases related to Albinism, Oculocutaneous, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 28.6 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
2 albinism 28.0 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2
3 cataract 18 10.0 TYRP1 OCA2
4 syndromic oculocutaneous albinism 9.9 SLC24A5 OCA5 OCA2
5 glaucoma-related pigment dispersion syndrome 9.9 TYRP1 LYST
6 ochronosis 9.9 TYRP1 TYR
7 ichthyosis, congenital, autosomal recessive 11 9.9 SLC45A2 SLC24A5 OCA2
8 hermansky-pudlak syndrome 1 9.9 SLC45A2 SLC24A5 OCA2
9 dowling-degos disease 1 9.8 TYRP1 TYR
10 amelanotic melanoma 9.8 TYRP1 TYR
11 autosomal recessive congenital ichthyosis 9.8 SLC45A2 SLC24A5 OCA2
12 autoimmune disease of skin and connective tissue 9.7 TYRP1 TYR
13 nystagmus 7, congenital, autosomal dominant 9.7 TYR GPR143
14 tietz albinism-deafness syndrome 9.7 TYRP1 TYR SLC45A2
15 nystagmus 2, congenital, autosomal dominant 9.7 TYR GPR143
16 nystagmus 4, congenital, autosomal dominant 9.7 TYR GPR143
17 vogt-koyanagi-harada disease 9.7 TYRP1 TYR
18 chediak-higashi syndrome 9.6 TYRP1 TYR LYST
19 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6 TYRP1 TYR
20 congenital nystagmus 9.5 TYR OCA2 GPR143
21 acute contagious conjunctivitis 9.5 TYRP1 TYR SLC45A2 OCA2
22 acute conjunctivitis 9.5 TYRP1 TYR SLC45A2 OCA2
23 waardenburg's syndrome 9.5 TYRP1 TYR SLC45A2 OCA2
24 melanoma, cutaneous malignant 1 9.5 TYRP1 TYR SLC45A2 OCA2
25 skin melanoma 9.4 TYRP1 TYR SLC45A2 OCA2
26 skin carcinoma 9.4 TYRP1 TYR SLC45A2 OCA2
27 albinism, oculocutaneous, type ii 9.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2
28 strabismus 9.3 TYRP1 TYR SLC24A5 GPR143
29 piebald trait 9.2 TYRP1 TYR SLC45A2 OCA2 LYST
30 griscelli syndrome 9.2 TYRP1 TYR SLC45A2 OCA2 LYST
31 nystagmus 6, congenital, x-linked 9.0 TYRP1 TYR SLC45A2 OCA2 GPR143
32 albinism, oculocutaneous, type ib 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
33 albinism, oculocutaneous, type iv 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
34 albinism, oculocutaneous, type iii 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
35 albinism, oculocutaneous, type ia 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
36 ocular albinism 8.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
37 hermansky-pudlak syndrome 8.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LYST
38 pathologic nystagmus 8.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LYST
39 albinism, oculocutaneous, type v 8.2 TYRP1 TYR SLC45A2 SLC24A5 OCA5 OCA2

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 LYST OCA2 SLC24A5 TYR TYRP1
2 hearing/vestibular/ear MP:0005377 9.65 LYST OCA2 SLC24A5 TYR TYRP1
3 integument MP:0010771 9.63 LYST OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 pigmentation MP:0001186 9.5 GPR143 LYST OCA2 SLC24A5 SLC45A2 TYR
5 vision/eye MP:0005391 9.17 GPR143 LYST OCA2 SLC24A5 SLC45A2 TYR

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
Eye, Skin

Publications for Albinism, Oculocutaneous, Type Vii

Articles related to Albinism, Oculocutaneous, Type Vii:

(show all 12)
# Title Authors PMID Year
1
Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. 6 57
23395477 2013
2
Increasing the complexity: new genes and new types of albinism. 61 57
24066960 2014
3
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. 6
26818737 2016
4
Chemodiversity and Antibacterial Activity of the Essential Oil of Leaves of Croton argyrophyllus. 61
32894822 2020
5
Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities. 61
32115698 2020
6
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism. 61
32849781 2020
7
Treating Helicobacter pylori infection in the face of growing antibiotic resistance. 61
31476871 2019
8
Genetic diseases associated with an increased risk of skin cancer development in childhood. 61
28525403 2017
9
Mutational analysis of oculocutaneous albinism: a compact review. 61
25093188 2014
10
[Use of the immunopotentiator N-acetyl-glucosamine-N-acetylmuramyl dipeptide during triple anti-Helicobacter pylori therapy]. 61
23479993 2012
11
[Cost-effectiveness analysis of 2 strategies of Helicobacter pylori eradication: results of a prospective and randomized study in primary care]. 61
10953829 2000
12
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 Position
1 LRMDA NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) SNV Pathogenic 41916 rs587776952 GRCh37: 10:78317029-78317029
GRCh38: 10:76557271-76557271
2 LOC110121427 , LRMDA NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) Duplication Pathogenic 41917 rs587776953 GRCh37: 10:77795783-77795784
GRCh38: 10:76036025-76036026
3 LRMDA NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys) SNV Likely pathogenic 209972 rs878854351 GRCh37: 10:77807014-77807014
GRCh38: 10:76047256-76047256
4 LOC110121427 , LRMDA NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) SNV Likely benign 261986 rs147768808 GRCh37: 10:77795827-77795827
GRCh38: 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
Show member pathways
10.86 TYRP1 TYR
2 9.62 TYRP1 TYR 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 9.26 TYRP1 TYR SLC24A5 GPR143
2 melanosome membrane GO:0033162 9.02 TYRP1 TYR 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 visual perception GO:0007601 9.58 TYR SLC45A2 GPR143
2 pigmentation GO:0043473 9.56 TYRP1 TYR OCA2 LYST
3 melanosome organization GO:0032438 9.5 TYRP1 LYST GPR143
4 developmental pigmentation GO:0048066 9.37 SLC45A2 OCA2
5 eye pigment biosynthetic process GO:0006726 9.33 TYR OCA2 GPR143
6 melanocyte differentiation GO:0030318 9.26 TYRP1 SLC24A5 OCA2 LRMDA
7 melanin biosynthetic process GO:0042438 8.92 TYRP1 TYR SLC45A2 OCA2

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

# Name GO ID Score Top Affiliating Genes
1 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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