MCID: ALB020
MIFTS: 26

Albinism, Oculocutaneous, Type Iii malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iii

About this section
Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 49 11 65
Oculocutaneous Albinism Type 3 45 22 51 65
Rufous Oculocutaneous Albinism 45 22 51 67
Oca3 45 22 51 67
Roca 45 22 67
Oculocutaneous Albinism Type Iii 67 24
Xanthism 45 67
Xanthous Oculocutaneous Albinism 51
 
Albinism, Oculocutaneous, Type 3 45
Red Oculocutaneous Albinism 51
Albinism, Oculocutaneous, 3 67
Albinism Iii 67
Albinism 3 45
Rufous Oca 45
Oca-Iii 67

Characteristics:

Orphanet epidemiological data:

51
oculocutaneous albinism type 3:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
albinism, oculocutaneous, type iii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 203290
Orphanet51 79433
ICD10 via Orphanet28 E70.3
MESH via Orphanet37 C537189, C537731
UMLS via Orphanet66 C0342683, C2931599
MeSH36 D016115
UMLS65 C2931599, C0342683

Summaries for Albinism, Oculocutaneous, Type Iii

About this section
UniProtKB/Swiss-Prot:67 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 oculocutaneous albinism and albinism, and has symptoms including ocular albinism, nystagmus and freckling. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1). Affiliated tissues include skin and eye.

Description from OMIM:49 203290

Related Diseases for Albinism, Oculocutaneous, Type Iii

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Symptoms:

 51 (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 ocular albinism hallmark (90%) HP:0001107
2 nystagmus hallmark (90%) HP:0000639
3 freckling typical (50%) HP:0001480
4 strabismus typical (50%) HP:0000486
5 cutaneous photosensitivity occasional (7.5%) HP:0000992
6 partial albinism HP:0007443
7 red hair HP:0002297
8 albinism HP:0001022
9 nystagmus HP:0000639
10 strabismus HP:0000486

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iii

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Albinism, Oculocutaneous, Type Iii

Genetic Tests for Albinism, Oculocutaneous, Type Iii

About this section

Genetic tests related to Albinism, Oculocutaneous, Type Iii:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 322 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

About this section

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

33
Skin, Eye

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

About this section

Publications for Albinism, Oculocutaneous, Type Iii

About this section

Variations for Albinism, Oculocutaneous, Type Iii

About this section

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

67
id Symbol AA change Variation ID SNP ID
1TYRP1p.Arg356GlnVAR_026828
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

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

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Iii

About this section

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

About this section

Sources for Albinism, Oculocutaneous, Type Iii

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet