OCA3
MCID: OCL036
MIFTS: 31

Oculocutaneous Albinism Type 3 (OCA3) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories
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Summaries for Oculocutaneous Albinism Type 3

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MalaCards based summary: Oculocutaneous Albinism Type 3, also known as albinism, oculocutaneous, type 3, is related to rufous oculocutaneous albinism and oculocutaneous albinism, and has symptoms including iris albinism/ocular albinism, nystagmus and abnormal pigmentary skin changes/skin pigmentation anomalies. An important gene associated with Oculocutaneous Albinism Type 3 is TYRP1 (tyrosinase-related protein 1). Affiliated tissues include skin and eye.

Description from OMIM:46 203290

Aliases & Classifications for Oculocutaneous Albinism Type 3

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Oculocutaneous Albinism Type 3, Aliases & Descriptions:

Name: Oculocutaneous Albinism Type 3 42 48 62
Albinism, Oculocutaneous, Type 3 42 20 22
Albinism, Oculocutaneous, Type Iii 46 62
Rufous Oculocutaneous Albinism 48 62
 
Oca3 42 48
Xanthous Oculocutaneous Albinism 48
Red Oculocutaneous Albinism 48
Albinism 3 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
oculocutaneous albinism type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 203290
MESH via Orphanet35 C537189, C537731
ICD10 via Orphanet26 E70.3
UMLS via Orphanet63 C0342683, C2931599

Related Diseases for Oculocutaneous Albinism Type 3

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Diseases in the Oculocutaneous Albinism Type 1 family:

Oculocutaneous Albinism Oculocutaneous Albinism Type 2
Oculocutaneous Albinism Type 4 Oculocutaneous Albinism Type 1b
oculocutaneous albinism type 3 Albinism, Oculocutaneous, Type V
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type Vi

Diseases related to Oculocutaneous Albinism Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1rufous oculocutaneous albinism10.7
2oculocutaneous albinism10.6
3albinism10.6
4xanthinuria type 110.4
5oculocutaneous albinism type 110.1

Graphical network of diseases related to Oculocutaneous Albinism Type 3:



Diseases related to oculocutaneous albinism type 3

Symptoms for Oculocutaneous Albinism Type 3

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Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Symptoms:

48 (show all 7)
  • iris albinism/ocular albinism
  • nystagmus
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • strabismus/squint
  • excessive freckling
  • hair and scalp anomalies
  • skin photosensitivity

HPO human phenotypes related to Oculocutaneous Albinism Type 3:

(show all 10)
id Description Frequency HPO Source Accession
1 nystagmus hallmark (90%) HP:0000639
2 ocular albinism hallmark (90%) HP:0001107
3 strabismus typical (50%) HP:0000486
4 freckling typical (50%) HP:0001480
5 cutaneous photosensitivity occasional (7.5%) HP:0000992
6 autosomal recessive inheritance HP:0000007
7 strabismus HP:0000486
8 nystagmus HP:0000639
9 red hair HP:0002297
10 partial albinism HP:0007443

Drugs & Therapeutics for Oculocutaneous Albinism Type 3

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Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 3

Search NIH Clinical Center for Oculocutaneous Albinism Type 3

Genetic Tests for Oculocutaneous Albinism Type 3

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Genetic tests related to Oculocutaneous Albinism Type 3:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 320 22 TYRP1

Anatomical Context for Oculocutaneous Albinism Type 3

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MalaCards organs/tissues related to Oculocutaneous Albinism Type 3:

32
Skin, Eye

Animal Models for Oculocutaneous Albinism Type 3 or affiliated genes

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Publications for Oculocutaneous Albinism Type 3

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Articles related to Oculocutaneous Albinism Type 3:

idTitleAuthorsYear
1
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. (21739261)
2011
2
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. (21996312)
2011
3
Tyrp1 and oculocutaneous albinism type 3. (11775055)
2001

Variations for Oculocutaneous Albinism Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Oculocutaneous Albinism Type 3:

64
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828

Clinvar genetic disease variations for Oculocutaneous Albinism Type 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1TYRP1NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs)deletionPathogenicrs387906560GRCh37Chr 9, 12704547: 12704547
2TYRP1NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter)single nucleotide variantPathogenicrs104894130GRCh37Chr 9, 12695626: 12695626
3TYRP1NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter)single nucleotide variantPathogenicrs121912778GRCh37Chr 9, 12704564: 12704564
4TYRP1NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln)single nucleotide variantPathogenicrs281865424GRCh37Chr 9, 12702424: 12702424
5TYRP1NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs)deletionPathogenicrs387906561GRCh37Chr 9, 12694103: 12694103
6TYRP1NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs)deletionPathogenicrs387906562GRCh37Chr 9, 12702414: 12702417

Expression for genes affiliated with Oculocutaneous Albinism Type 3

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Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism Type 3

Search GEO for disease gene expression data for Oculocutaneous Albinism Type 3.

Pathways for genes affiliated with Oculocutaneous Albinism Type 3

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Compounds for genes affiliated with Oculocutaneous Albinism Type 3

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GO Terms for genes affiliated with Oculocutaneous Albinism Type 3

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Products for genes affiliated with Oculocutaneous Albinism Type 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Oculocutaneous Albinism Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet