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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 52 12 68
Oculocutaneous Albinism Type 3 48 24 54 68
Rufous Oculocutaneous Albinism 48 24 54 70
Oca3 48 24 54 70
Roca 48 24 70
Oculocutaneous Albinism Type Iii 70 27
Xanthism 48 70
Xanthous Oculocutaneous Albinism 54
 
Albinism, Oculocutaneous, Type 3 48
Red Oculocutaneous Albinism 54
Albinism, Oculocutaneous, 3 70
Albinism Iii 70
Albinism 3 48
Rufous Oca 48
Oca-Iii 70

Characteristics:

Orphanet epidemiological data:

54
oculocutaneous albinism type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
albinism, oculocutaneous, type iii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 203290
Orphanet54 ORPHA79433
MESH via Orphanet40 C537189, C537731
UMLS via Orphanet69 C0342683, C2931599
ICD10 via Orphanet31 E70.3
MeSH39 D016115

Summaries for Albinism, Oculocutaneous, Type Iii

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 54 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus64 54 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ocular albinism64 hallmark (90%) HP:0001107
3 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
4 freckling64 54 typical (50%) Frequent (79-30%) HP:0001480
5 cutaneous photosensitivity64 54 occasional (7.5%) Occasional (29-5%) HP:0000992
6 albinism64 54 Very frequent (99-80%) HP:0001022
7 red hair64 54 Frequent (79-30%) HP:0002297
8 partial albinism64 HP:0007443
9 hypopigmentation of the skin54 Very frequent (99-80%)
10 hypopigmentation of hair54 Frequent (79-30%)
11 iris hypopigmentation54 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 327 24 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

36
Skin, Eye

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:

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet