OCA3
MCID: OCL036
MIFTS: 29

Oculocutaneous Albinism Type 3 (OCA3) malady

Eye diseases, Skin diseases, Metabolic diseases categories

Summaries for Oculocutaneous Albinism Type 3

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46OMIM, 32MalaCards
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MalaCards: Oculocutaneous Albinism Type 3, also known as albinism, oculocutaneous, type 3, is related to oculocutaneous albinism and albinism, and has symptoms including nystagmus, skin photosensitivity and strabismus/squint. 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, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

oculocutaneous albinism type 3 42 48 60
albinism, oculocutaneous, type 3 42 20 22
albinism, oculocutaneous, type iii 46 60
oca3 42 48
xanthous oculocutaneous albinism 48
rufous oculocutaneous albinism 48
red oculocutaneous albinism 48
albinism 3 42


External Ids:

OMIM46 203290
MESH via Orphanet35 C537189, C537731
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet57 63450009
UMLS via Orphanet61 C0342683, C2931599

Related Diseases for Oculocutaneous Albinism Type 3

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Sources:
17GeneCards, 18GeneDecks
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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 3
Oculocutaneous Albinism Type 1b 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
1oculocutaneous albinism10.5
2albinism10.5
3rufous oculocutaneous albinism10.3
4xanthinuria type 110.3
5oculocutaneous albinism type 110.0

Graphical network of diseases related to Oculocutaneous Albinism Type 3:



Diseases related to oculocutaneous albinism type 3

Clinical Features for Oculocutaneous Albinism Type 3

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

203290

Clinical synopsis from OMIM:

203290

Symptoms:

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

Drugs & Therapeutics for Oculocutaneous Albinism Type 3

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Oculocutaneous Albinism Type 3

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 3

Search NIH Clinical Center for Oculocutaneous Albinism Type 3

Search CenterWatch for Oculocutaneous Albinism Type 3

Genetic Tests for Oculocutaneous Albinism Type 3

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Sources:
20GeneTests, 22GTR
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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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Sources:
32MalaCards
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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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Genetic Variations for Oculocutaneous Albinism Type 3

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Oculocutaneous Albinism Type 3:

62
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828

Expression for genes affiliated with Oculocutaneous Albinism Type 3

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet