MCID: ALB020
MIFTS: 26

Albinism, Oculocutaneous, Type Iii malady

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

Summaries for Albinism, Oculocutaneous, Type Iii

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

Description from OMIM:45 203290

Aliases & Classifications for Albinism, Oculocutaneous, Type Iii

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Albinism, Oculocutaneous, Type Iii, Aliases & Descriptions:

Name: Albinism, Oculocutaneous, Type Iii 45 10 60
Albinism, Oculocutaneous, Type 3 41 20 22
Oculocutaneous Albinism Type 3 41 47 60
Xanthous Oculocutaneous Albinism 41 47
Rufous Oculocutaneous Albinism 41 47
Red Oculocutaneous Albinism 41 47
 
Oca3 41 47
Albinism 3 41
Rufous Oca 41
Xanthism 41
Roca 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
oculocutaneous albinism type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 203290
Orphanet47 79433
MESH via Orphanet34 C537189, C537731
ICD10 via Orphanet26 E70.3
UMLS via Orphanet61 C0342683, C2931599

Related Diseases for Albinism, Oculocutaneous, Type Iii

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Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Iv
albinism, oculocutaneous, type iii Albinism, Oculocutaneous, Type Vii
Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Vi

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

idRelated DiseaseScoreTop Affiliating Genes
1oculocutaneous albinism10.6
2albinism10.6
3osteochondrosis10.1
4albinism, oculocutaneous, type ia10.1

Symptoms for Albinism, Oculocutaneous, Type Iii

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Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Symptoms:

 47 (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 Albinism, Oculocutaneous, Type Iii:

(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 Albinism, Oculocutaneous, Type Iii

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Drug clinical trials:

Search ClinicalTrials for Albinism, Oculocutaneous, Type Iii

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Iii

Genetic Tests for Albinism, Oculocutaneous, Type Iii

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Genetic tests related to Albinism, Oculocutaneous, Type Iii:

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

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Iii:

31
Skin, Eye

Animal Models for Albinism, Oculocutaneous, Type Iii or affiliated genes

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Publications for Albinism, Oculocutaneous, Type Iii

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Variations for Albinism, Oculocutaneous, Type Iii

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

62
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828
2TYRP1p.Ala24ThrVAR_072599

Clinvar genetic disease variations for Albinism, Oculocutaneous, Type Iii:

6
id Gene Variation 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 Albinism, Oculocutaneous, Type Iii

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Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Iii.

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Iii

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Compounds for genes affiliated with Albinism, Oculocutaneous, Type Iii

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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Iii

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Products for genes affiliated with Albinism, Oculocutaneous, Type Iii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Albinism, Oculocutaneous, Type Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet