OCA3
MCID: ALB020
MIFTS: 45

Albinism, Oculocutaneous, Type Iii (OCA3)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Iii

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Iii:

Name: Albinism, Oculocutaneous, Type Iii 57 13 40 73
Oculocutaneous Albinism Type 3 76 53 59 29 6 73
Rufous Oculocutaneous Albinism 57 12 53 59 75
Oca3 57 12 53 59 75
Oculocutaneous Albinism Type Iii 12 75 15
Xanthism 57 53 75
Roca 57 53 75
Albinism Iii 57 75
Rufous Oculocutaneous Albinism; Roca 57
Oculocutaneous Albinism, Type Iii 57
Albinism, Oculocutaneous, Type 3 53
Xanthous Oculocutaneous Albinism 59
Red Oculocutaneous Albinism 59
Albinism, Oculocutaneous, 3 75
Albinism 3 53
Rufous Oca 53
Oca-Iii 75

Characteristics:

Orphanet epidemiological data:

59
oculocutaneous albinism type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 203290
Disease Ontology 12 DOID:0070097
Orphanet 59 ORPHA79433
MESH via Orphanet 45 C537189 C537731
UMLS via Orphanet 74 C0342683 C2931599
ICD10 via Orphanet 34 E70.3
MeSH 44 D016115

Summaries for Albinism, Oculocutaneous, Type Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79433Disease definitionType 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.EpidemiologyOCA3 has an estimated prevalence of 1/8,500 individuals in Africa. It is rarely seen in other populations.Clinical descriptionVisual anomalies, such as nystagmus, are frequently undetectable and patients usually present with one of two phenotypes: rufous OCA (ROCA), characterized by red-bronze skin color, blue or brown irises and ginger-red hair, or brown OCA (BOCA), characterized by light to brown hair and a light to brown or tan skin color. The clinical features of OCA3 have been considered as rather mild, and in the rare cases of non-African patients, reddish hair color has been reported. A Japanese girl was reported with having OCA3 who presented with blond hair and light skin (with a small Mongolian spot), was able to tan and was negative for nystagmus.EtiologyOCA3 is caused by a mutation in the tyrosinase-related protein 1, TYRP1, gene located on chromosome 9p23. The majority of BOCA cases are seen in OCA2, but a few BOCA phenotypes have been reported with mutations in the TYRP1 gene, indicating OCA3.Genetic counselingOCA3 is inherited autosomal recessively and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Albinism, Oculocutaneous, Type Iii, also known as oculocutaneous albinism type 3, is related to albinism and oculocutaneous albinism. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1), and among its related pathways/superpathways are Viral mRNA Translation and Phenylalanine metabolism. The drugs Gleevec and Temodar have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and strabismus

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive mutation of TYRP1 on chromosome 9p23.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

Description from OMIM: 203290

Related Diseases for Albinism, Oculocutaneous, Type Iii

Diseases in the Oculocutaneous Albinism family:

Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Ia
Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii
Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type Ib
Albinism, Oculocutaneous, Type Vii Albinism, Oculocutaneous, Type V

Diseases related to Albinism, Oculocutaneous, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 albinism 29.5 LRMDA OCA2 SLC45A2 TYR TYRP1
2 oculocutaneous albinism 29.3 LRMDA OCA2 SLC45A2 TYR TYRP1
3 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.2
4 osteochondrosis 10.1
5 hermansky-pudlak syndrome 9.9 TYR TYRP1
6 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9 TYR TYRP1
7 amelanotic melanoma 9.9 TYR TYRP1
8 dowling-degos disease 1 9.9 TYR TYRP1
9 hermansky-pudlak syndrome 3 9.9 TYR TYRP1
10 congenital nystagmus 9.9 OCA2 TYR
11 waardenburg syndrome, type 2a 9.9 TYR TYRP1
12 acute contagious conjunctivitis 9.9 OCA2 TYR
13 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9 TYR TYRP1
14 dyschromatosis symmetrica hereditaria 9.8 OCA2 TYR
15 chediak-higashi syndrome 9.8 TYR TYRP1
16 vogt-koyanagi-harada disease 9.8 TYR TYRP1
17 waardenburg's syndrome 9.8 TYR TYRP1
18 strabismus 9.7 TYR TYRP1
19 hermansky-pudlak syndrome 1 9.7 OCA2 SLC45A2 TYR
20 pathologic nystagmus 9.7 OCA2 SLC45A2 TYR
21 albinism, oculocutaneous, type ii 9.5 OCA2 SLC45A2 TYR TYRP1
22 ocular albinism 9.5 OCA2 SLC45A2 TYR TYRP1
23 albinism, oculocutaneous, type ib 9.3 LRMDA OCA2 SLC45A2 TYR TYRP1
24 albinism, oculocutaneous, type v 9.3 LRMDA OCA2 SLC45A2 TYR TYRP1
25 albinism, oculocutaneous, type vii 9.3 LRMDA OCA2 SLC45A2 TYR TYRP1
26 albinism, oculocutaneous, type ia 9.3 LRMDA OCA2 SLC45A2 TYR TYRP1
27 albinism, oculocutaneous, type iv 9.3 LRMDA OCA2 SLC45A2 TYR TYRP1

Graphical network of the top 20 diseases related to Albinism, Oculocutaneous, Type Iii:



Diseases related to Albinism, Oculocutaneous, Type Iii

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Iii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
red reflex on transillumination of the iris
retinal pigment present
dilution of color of iris

Skin Nails Hair Hair:
bright copper-red hair (in darker-skinned individuals)
reddish hair (in some less dark-skinned individuals)

Skin Nails Hair Skin:
bright copper-red coloration of skin (in darker-skinned individuals)
freckled skin (in some less dark-skinned individuals)
mild hypopigmentation (in light-skinned individuals)

Laboratory Abnormalities:
normal tyrosinase


Clinical features from OMIM:

203290

Human phenotypes related to Albinism, Oculocutaneous, Type Iii:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
3 cutaneous photosensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000992
4 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
5 freckling 59 32 frequent (33%) Frequent (79-30%) HP:0001480
6 albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001022
7 red hair 59 32 frequent (33%) Frequent (79-30%) HP:0002297
8 hypopigmentation of hair 59 Frequent (79-30%)
9 partial albinism 32 HP:0007443
10 hypopigmentation of the skin 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Albinism, Oculocutaneous, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 LRMDA OCA2 SLC45A2 TYR TYRP1
2 homeostasis/metabolism MP:0005376 9.77 LRMDA OCA2 SLC45A2 TYR TYRP1
3 integument MP:0010771 9.62 OCA2 SLC45A2 TYR TYRP1
4 hearing/vestibular/ear MP:0005377 9.58 OCA2 TYR TYRP1
5 pigmentation MP:0001186 9.56 OCA2 SLC45A2 TYR TYRP1
6 reproductive system MP:0005389 9.46 OCA2 SLC45A2 TYR TYRP1
7 skeleton MP:0005390 9.26 LRMDA OCA2 TYR TYRP1
8 vision/eye MP:0005391 8.92 OCA2 SLC45A2 TYR TYRP1

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iii

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
2
Temodar 18 49 TEMOZOLOMIDE Schering-Plough August 1999
3
Brovana 18 ARFORMOTEROL TARTRATE Sepracor in October 2006
4
DuoNeb 18 ALBUTEROL SULFATE; IPRATROPIUM BROMIDE Dey Laboratories March 2001
5
Nasacort AQ Nasal Spray 18 TRIAMCINOLONE ACETONIDE Phone-Poulenc Rorer October 1997

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:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 3 29 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

41
Skin, Eye, Retina

Publications for Albinism, Oculocutaneous, Type Iii

Articles related to Albinism, Oculocutaneous, Type Iii:

# Title Authors Year
1
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. ( 30347088 )
2018
2
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. ( 21996312 )
2011
3
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. ( 21739261 )
2011
4
Tyrp1 and oculocutaneous albinism type 3. ( 11775055 )
2001

Variations for Albinism, Oculocutaneous, Type Iii

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

75
# 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 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYRP1 NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs) deletion Pathogenic rs387906562 GRCh38 Chromosome 9, 12702414: 12702417
2 TYRP1 NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs) deletion Pathogenic rs387906562 GRCh37 Chromosome 9, 12702414: 12702417
3 TYRP1 NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs) deletion Pathogenic rs387906561 GRCh38 Chromosome 9, 12694103: 12694103
4 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
5 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh38 Chromosome 9, 12704547: 12704547
6 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
7 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh38 Chromosome 9, 12695626: 12695626
8 TYRP1 NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs121912778 GRCh37 Chromosome 9, 12704564: 12704564
9 TYRP1 NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs121912778 GRCh38 Chromosome 9, 12704564: 12704564
10 TYRP1 NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln) single nucleotide variant Pathogenic rs281865424 GRCh37 Chromosome 9, 12702424: 12702424
11 TYRP1 NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln) single nucleotide variant Pathogenic rs281865424 GRCh38 Chromosome 9, 12702424: 12702424
12 TYRP1 NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs) deletion Pathogenic rs387906561 GRCh37 Chromosome 9, 12694103: 12694103
13 TYRP1 NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro) single nucleotide variant Likely pathogenic rs776174514 GRCh37 Chromosome 9, 12704589: 12704589
14 TYRP1 NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro) single nucleotide variant Likely pathogenic rs776174514 GRCh38 Chromosome 9, 12704589: 12704589
15 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh37 Chromosome 9, 12704706: 12704706
16 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh38 Chromosome 9, 12704706: 12704706

Expression for Albinism, Oculocutaneous, Type Iii

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

Pathways for Albinism, Oculocutaneous, Type Iii

Pathways related to Albinism, Oculocutaneous, Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 OCA2 SLC45A2 TYR TYRP1
2
Show member pathways
10.84 TYR TYRP1
3 9.62 OCA2 SLC45A2 TYR TYRP1

GO Terms for Albinism, Oculocutaneous, Type Iii

Cellular components related to Albinism, Oculocutaneous, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.96 TYR TYRP1
2 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

Biological processes related to Albinism, Oculocutaneous, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.37 SLC45A2 TYR
2 pigmentation GO:0043473 9.33 OCA2 TYR TYRP1
3 developmental pigmentation GO:0048066 9.32 OCA2 SLC45A2
4 eye pigment biosynthetic process GO:0006726 9.26 OCA2 TYR
5 melanocyte differentiation GO:0030318 9.13 LRMDA OCA2 TYRP1
6 melanin biosynthetic process GO:0042438 8.92 OCA2 SLC45A2 TYR TYRP1

Molecular functions related to Albinism, Oculocutaneous, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.62 TYR TYRP1

Sources for Albinism, Oculocutaneous, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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