OCA3
MCID: ALB020
MIFTS: 27

Albinism, Oculocutaneous, Type Iii (OCA3) malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iii

Aliases & Descriptions for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 54 13 69
Oculocutaneous Albinism Type 3 50 24 56 69
Rufous Oculocutaneous Albinism 50 24 56 66
Oca3 50 24 56 66
Roca 50 24 66
Oculocutaneous Albinism Type Iii 66 29
Xanthism 50 66
Albinism, Oculocutaneous, Type 3 50
Xanthous Oculocutaneous Albinism 56
Red Oculocutaneous Albinism 56
Albinism, Oculocutaneous, 3 66
Albinism Iii 66
Albinism 3 50
Rufous Oca 50
Oca-Iii 66

Characteristics:

Orphanet epidemiological data:

56
oculocutaneous albinism type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
albinism, oculocutaneous, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 203290
Orphanet 56 ORPHA79433
MESH via Orphanet 43 C537189 C537731
UMLS via Orphanet 70 C0342683 C2931599
ICD10 via Orphanet 34 E70.3
MeSH 42 D016115

Summaries for Albinism, Oculocutaneous, Type Iii

UniProtKB/Swiss-Prot : 66 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, strabismus and cutaneous photosensitivity. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1). Affiliated tissues include skin and eye.

Description from OMIM: 203290

Related Diseases for Albinism, Oculocutaneous, Type Iii

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:

id Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ia 10.9
2 oculocutaneous albinism 10.2
3 albinism 10.2
4 osteochondrosis 9.9

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iii

Symptoms by clinical synopsis from OMIM:

203290

Clinical features from OMIM:

203290

Human phenotypes related to Albinism, Oculocutaneous, Type Iii:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Very frequent (99-80%) HP:0000639
2 strabismus 56 32 Frequent (79-30%) HP:0000486
3 cutaneous photosensitivity 56 32 Occasional (29-5%) HP:0000992
4 iris hypopigmentation 56 32 Very frequent (99-80%) HP:0007730
5 freckling 56 32 Frequent (79-30%) HP:0001480
6 red hair 56 32 Frequent (79-30%) HP:0002297
7 albinism 56 32 Very frequent (99-80%) HP:0001022
8 hypopigmentation of hair 56 Frequent (79-30%)
9 partial albinism 32 HP:0007443
10 hypopigmentation of the skin 56 Very frequent (99-80%)

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iii

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

Genetic Tests for Albinism, Oculocutaneous, Type Iii

Genetic tests related to Albinism, Oculocutaneous, Type Iii:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 3 29 24 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

39
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iii

Variations for Albinism, Oculocutaneous, Type Iii

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

66
id Symbol AA change Variation ID SNP ID
1 TYRP1 p.Arg356Gln VAR_026828 rs281865424
2 TYRP1 p.Ala24Thr VAR_072599 rs61758405

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
2 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic,risk factor rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
3 TYRP1 NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs121912778 GRCh37 Chromosome 9, 12704564: 12704564
4 TYRP1 NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln) single nucleotide variant Pathogenic rs281865424 GRCh37 Chromosome 9, 12702424: 12702424
5 TYRP1 NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs) deletion Pathogenic rs387906561 GRCh37 Chromosome 9, 12694103: 12694103
6 TYRP1 NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs) deletion Pathogenic rs387906562 GRCh37 Chromosome 9, 12702414: 12702417
7 TYRP1 NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro) single nucleotide variant Likely pathogenic rs776174514 GRCh37 Chromosome 9, 12704589: 12704589

Expression for Albinism, Oculocutaneous, Type Iii

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

Pathways for Albinism, Oculocutaneous, Type Iii

GO Terms for Albinism, Oculocutaneous, Type Iii

Sources for Albinism, Oculocutaneous, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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