OCA3
MCID: OCL036
MIFTS: 32

Oculocutaneous Albinism Type 3 (OCA3) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories

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 nystagmus, ocular albinism and strabismus. 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, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Oculocutaneous Albinism Type 3, Aliases & Descriptions:

Name: Oculocutaneous Albinism Type 3 42 48 61
Albinism, Oculocutaneous, Type 3 42 21 23
Albinism, Oculocutaneous, Type Iii 46 61
Rufous Oculocutaneous Albinism 48 61
 
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 Orphanet27 E70.3
UMLS via Orphanet62 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 321 23 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:

63
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828

Clinvar genetic disease variations for Oculocutaneous Albinism Type 3:

7
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 variantPathogenic, risk factorrs104894130GRCh37Chr 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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Oculocutaneous Albinism Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet