OCA3
MCID: OCL036
MIFTS: 22

Oculocutaneous Albinism Type 3 (OCA3) malady

Eye, Skin, Metabolic categories

Summaries for Oculocutaneous Albinism Type 3

Sources:
47OMIM, 33MalaCards
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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).

Description from OMIM:47 203290

Aliases & Classifications for Oculocutaneous Albinism Type 3

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 49 61
albinism, oculocutaneous, type 3 43 20 22
albinism, oculocutaneous, type iii 47 61
oca3 43 49
xanthous oculocutaneous albinism 49
rufous oculocutaneous albinism 49
red oculocutaneous albinism 49
albinism 3 43


External Ids:

OMIM47 203290
MESH via Orphanet36 C537189, C537731
ICD10 via Orphanet26 E70.3
SNOMED-CT via Orphanet58 63450009
UMLS via Orphanet62 C0342683, C2931599

Related Diseases for Oculocutaneous Albinism Type 3

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
6brown oca10.0
7albinism, brown oculocutaneous10.0

Graphical network of diseases related to Oculocutaneous Albinism Type 3:



Diseases related to oculocutaneous albinism type 3

Clinical Features for Oculocutaneous Albinism Type 3

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203290

Clinical synopsis from OMIM:

203290

Symptoms:

49 (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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Oculocutaneous Albinism Type 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Oculocutaneous Albinism Type 3

Genetic Variations for Oculocutaneous Albinism Type 3

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Oculocutaneous Albinism Type 3:

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

Expression for genes affiliated with Oculocutaneous Albinism Type 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Oculocutaneous Albinism Type 3

GO Terms for genes affiliated with Oculocutaneous Albinism Type 3

Products for genes affiliated with Oculocutaneous Albinism Type 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet