MCID: ALB020
MIFTS: 27

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:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 51 12 67
Oculocutaneous Albinism Type 3 47 24 53 67
Rufous Oculocutaneous Albinism 47 24 53 69
Oca3 47 24 53 69
Roca 47 24 69
Oculocutaneous Albinism Type Iii 69 26
Xanthism 47 69
Xanthous Oculocutaneous Albinism 53
 
Albinism, Oculocutaneous, Type 3 47
Red Oculocutaneous Albinism 53
Albinism, Oculocutaneous, 3 69
Albinism Iii 69
Albinism 3 47
Rufous Oca 47
Oca-Iii 69

Characteristics:

Orphanet epidemiological data:

53
oculocutaneous albinism type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
albinism, oculocutaneous, type iii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 203290
Orphanet53 ORPHA79433
MESH via Orphanet39 C537189, C537731
UMLS via Orphanet68 C0342683, C2931599
ICD10 via Orphanet30 E70.3
MeSH38 D016115

Summaries for Albinism, Oculocutaneous, Type Iii

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UniProtKB/Swiss-Prot:69 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 oculocutaneous albinism type 3, is related to albinism, oculocutaneous, type ia and oculocutaneous 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:51 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
1albinism, oculocutaneous, type ia10.9
2oculocutaneous albinism10.2
3albinism10.2
4osteochondrosis9.9

Symptoms for Albinism, Oculocutaneous, Type Iii

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Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Human phenotypes related to Albinism, Oculocutaneous, Type Iii:

 63 53 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus63 53 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ocular albinism63 hallmark (90%) HP:0001107
3 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
4 freckling63 53 typical (50%) Frequent (79-30%) HP:0001480
5 cutaneous photosensitivity63 53 occasional (7.5%) Occasional (29-5%) HP:0000992
6 albinism63 53 Very frequent (99-80%) HP:0001022
7 red hair63 53 Frequent (79-30%) HP:0002297
8 partial albinism63 HP:0007443
9 hypopigmentation of the skin53 Very frequent (99-80%)
10 hypopigmentation of hair53 Frequent (79-30%)
11 iris hypopigmentation53 Very frequent (99-80%)

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 326 24 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

35
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:

69
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
1TYRP1NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs)deletionPathogenicrs387906560GRCh37Chr 9, 12704547: 12704547
2TYRP1NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter)SNVPathogenic, risk factorrs104894130GRCh37Chr 9, 12695626: 12695626
3TYRP1NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter)SNVPathogenicrs121912778GRCh37Chr 9, 12704564: 12704564
4TYRP1NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln)SNVPathogenicrs281865424GRCh37Chr 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
7TYRP1NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro)SNVLikely 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet