MCID: ALB020
MIFTS: 28

Albinism, Oculocutaneous, Type Iii malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Albinism, Oculocutaneous, Type Iii

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Sources:
50OMIM, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 50 12 66
Rufous Oculocutaneous Albinism 46 23 52 68
Oculocutaneous Albinism Type 3 46 23 52 66
Oca3 46 23 52 68
Roca 46 23 68
Oculocutaneous Albinism Type Iii 68 25
Xanthism 46 68
Xanthous Oculocutaneous Albinism 52
 
Albinism, Oculocutaneous, Type 3 46
Red Oculocutaneous Albinism 52
Albinism, Oculocutaneous, 3 68
Albinism Iii 68
Rufous Oca 46
Albinism 3 46
Oca-Iii 68

Characteristics:

Orphanet epidemiological data:

52
rufous oculocutaneous albinism:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
albinism, oculocutaneous, type iii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 203290
Orphanet52 ORPHA79433
ICD10 via Orphanet29 E70.3
MESH via Orphanet38 C537189, C537731
UMLS via Orphanet67 C0342683, C2931599
MeSH37 D016115

Summaries for Albinism, Oculocutaneous, Type Iii

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UniProtKB/Swiss-Prot:68 Albinism, oculocutaneous, 3: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair.

MalaCards based summary: Albinism, Oculocutaneous, Type Iii, also known as rufous oculocutaneous albinism, 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:50 203290

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 albinism10.3
2albinism10.3
3osteochondrosis10.0

Symptoms for Albinism, Oculocutaneous, Type Iii

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Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Symptoms:

 52 (show all 9)
  • strabismus
  • nystagmus
  • cutaneous photosensitivity
  • hypopigmentation of the skin
  • albinism
  • freckling
  • red hair
  • hypopigmentation of hair
  • iris hypopigmentation

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 strabismus HP:0000486
7 nystagmus HP:0000639
8 albinism HP:0001022
9 red hair HP:0002297
10 partial albinism HP:0007443

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iii

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Interventional clinical trials:

Search ClinicalTrials, 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 325 23 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828rs281865424
2TYRP1p.Ala24ThrVAR_072599rs61758405

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_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
3NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter)single nucleotide variantPathogenicrs121912778GRCh37Chr 9, 12704564: 12704564
4NM_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
6NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs)deletionPathogenicrs387906562GRCh37Chr 9, 12702414: 12702417
7NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro)single nucleotide variantLikely pathogenicrs776174514GRCh37Chr 9, 12704589: 12704589

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

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Sources for Albinism, Oculocutaneous, Type Iii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet