OCA3
MCID: ALB020
MIFTS: 50

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 58 13 41 74
Oculocutaneous Albinism Type 3 77 54 60 30 6 74
Rufous Oculocutaneous Albinism 58 12 54 60 76
Oca3 58 12 54 60 76
Oculocutaneous Albinism Type Iii 12 76 15
Xanthism 58 54 76
Roca 58 54 76
Albinism Iii 58 76
Rufous Oculocutaneous Albinism; Roca 58
Oculocutaneous Albinism, Type Iii 58
Albinism, Oculocutaneous, Type 3 54
Xanthous Oculocutaneous Albinism 60
Red Oculocutaneous Albinism 60
Albinism, Oculocutaneous, 3 76
Albinism 3 54
Rufous Oca 54
Oca-Iii 76

Characteristics:

Orphanet epidemiological data:

60
oculocutaneous albinism type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
albinism, oculocutaneous, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070097
OMIM 58 203290
MeSH 45 D016115
MESH via Orphanet 46 C537189 C537731
ICD10 via Orphanet 35 E70.3
UMLS via Orphanet 75 C0342683 C2931599
Orphanet 60 ORPHA79433

Summaries for Albinism, Oculocutaneous, Type Iii

NIH Rare Diseases : 54 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 oculocutaneous albinism and albinism. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1), and among its related pathways/superpathways are Pathways in cancer and Neural Crest Differentiation. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and iris hypopigmentation

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

UniProtKB/Swiss-Prot : 76 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 : 77 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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 oculocutaneous albinism 30.3 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
2 albinism 30.1 GPR143 LRMDA MITF OCA2 SLC24A5 SLC45A2
3 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.6
4 albinism, ocular, with sensorineural deafness 10.4 MITF TYR
5 hypomelanosis of ito 10.3 MITF TYR
6 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3 MITF TYR TYRP1
7 congenital nystagmus 10.3 GPR143 OCA2 TYR
8 albinism, ocular, with late-onset sensorineural deafness 10.2 MITF SOX10 TYR
9 gallbladder melanoma 10.2 MITF MLANA
10 halo nevi 10.2 MLANA TYR
11 lentigo maligna melanoma 10.2 MITF MLANA
12 amelanotic melanoma 10.1 KIT TYR TYRP1
13 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 KITLG MITF TYR TYRP1
14 cutaneous ganglioneuroma 10.1 KIT MITF
15 albinism, oculocutaneous, type ii 10.1 OCA2 SLC24A5 SLC45A2 TYR TYRP1
16 melanoacanthoma 10.1 MLANA TYR
17 pigmented basal cell carcinoma 10.1 MITF MLANA TYR
18 epithelioid cell melanoma 10.1 MITF MLANA TYR
19 angiomyolipoma 10.1 KIT MITF TYR
20 ovarian cancer 10.1
21 osteochondrosis 10.1
22 ptosis 10.1
23 pathologic nystagmus 10.1 GPR143 MYO5A OCA2 SLC45A2 TYR
24 tietz albinism-deafness syndrome 10.0 MITF PAX3 SOX10 TYR
25 mutism 10.0 GJB2 MITF
26 melanoma, uveal 10.0 MITF MLANA TYR
27 indolent systemic mastocytosis 10.0 KIT KITLG
28 mastocytosis 10.0 KIT KITLG MITF
29 albinism, oculocutaneous, type ib 10.0 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
30 albinism, oculocutaneous, type v 10.0 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
31 albinism, oculocutaneous, type vii 10.0 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
32 megacolon 10.0 EDN3 EDNRB SOX10
33 malignant anus melanoma 10.0 KIT MLANA
34 colonic disease 10.0 EDN3 EDNRB SOX10
35 waardenburg syndrome, type 3 10.0 EDN3 MITF PAX3 SOX10
36 ocular albinism 10.0 GPR143 MITF OCA2 SLC45A2 TYR TYRP1
37 diffuse meningeal melanocytosis 10.0 MLANA TYR
38 ovarian melanoma 9.9 KIT MLANA
39 vulvar melanoma 9.9 KIT MLANA TYR
40 malignant skin fibrous histiocytoma 9.9 KIT MLANA TYR
41 malignant dermis tumor 9.9 KIT MLANA TYR
42 waardenburg syndrome, type 2e 9.9 EDNRB KITLG MITF SOX10
43 central nervous system melanocytic neoplasm 9.9 KIT MLANA TYR
44 malignant spindle cell melanoma 9.9 KIT MITF SOX10 TYR
45 waardenburg syndrome type 4 9.9 EDN3 EDNRB MITF SOX10
46 cochlear disease 9.9 EDN3 EDNRB MITF SOX10
47 waardenburg syndrome, type 4a 9.9 EDN3 EDNRB MITF SOX10
48 constipation 9.9 EDN3 EDNRB KIT
49 hermansky-pudlak syndrome 1 9.9 OCA2 PAX3 SLC24A5 SLC45A2 SOX10 TYR
50 dowling-degos disease 1 9.9 KIT KITLG MITF 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

Human phenotypes related to Albinism, Oculocutaneous, Type Iii:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
3 albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001022
4 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
5 freckling 60 33 frequent (33%) Frequent (79-30%) HP:0001480
6 red hair 60 33 frequent (33%) Frequent (79-30%) HP:0002297
7 cutaneous photosensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000992
8 hypopigmentation of hair 60 Frequent (79-30%)
9 partial albinism 33 HP:0007443
10 hypopigmentation of the skin 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CANX DCT EDN3 EDNRB FGFR2 GJB2

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

47 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.48 CANX EDN3 EDNRB FGFR2 KIT LRMDA
2 growth/size/body region MP:0005378 10.43 CANX EDNRB FGFR2 GJB2 KIT KITLG
3 integument MP:0010771 10.42 DCT EDN3 EDNRB FGFR2 GJB2 KIT
4 craniofacial MP:0005382 10.37 EDNRB FGFR2 GJB2 KIT KITLG MITF
5 cellular MP:0005384 10.34 EDNRB FGFR2 GJB2 KIT KITLG MITF
6 homeostasis/metabolism MP:0005376 10.34 EDNRB FGFR2 GJB2 KIT KITLG MITF
7 hearing/vestibular/ear MP:0005377 10.33 EDNRB FGFR2 GJB2 KIT KITLG MITF
8 nervous system MP:0003631 10.31 CANX DCT EDN3 EDNRB FGFR2 GJB2
9 mortality/aging MP:0010768 10.3 CANX EDN3 EDNRB FGFR2 GJB2 KIT
10 immune system MP:0005387 10.29 CANX EDNRB FGFR2 GJB2 KIT KITLG
11 embryo MP:0005380 10.27 EDN3 EDNRB FGFR2 GJB2 KIT KITLG
12 hematopoietic system MP:0005397 10.24 EDNRB FGFR2 KIT KITLG LRMDA MITF
13 endocrine/exocrine gland MP:0005379 10.22 EDNRB FGFR2 KIT KITLG MITF OCA2
14 limbs/digits/tail MP:0005371 10.22 EDNRB FGFR2 GJB2 KIT KITLG MITF
15 digestive/alimentary MP:0005381 10.19 EDN3 EDNRB FGFR2 KIT KITLG OCA2
16 pigmentation MP:0001186 10.19 DCT EDN3 EDNRB FGFR2 GPR143 KIT
17 no phenotypic analysis MP:0003012 10.07 CANX FGFR2 GJB2 KIT MITF MLANA
18 neoplasm MP:0002006 10.03 EDNRB FGFR2 KIT KITLG PAX3 SOX10
19 normal MP:0002873 9.97 FGFR2 GJB2 KIT MITF MYO5A OCA2
20 reproductive system MP:0005389 9.81 FGFR2 GJB2 KIT KITLG MITF OCA2
21 skeleton MP:0005390 9.65 EDNRB FGFR2 GJB2 KIT KITLG MITF
22 vision/eye MP:0005391 9.5 DCT EDNRB FGFR2 GJB2 GPR143 KIT

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:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 3 30 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

42
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:

76
# 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.1145T> C (p.Leu382Pro) single nucleotide variant Likely pathogenic rs776174514 GRCh37 Chromosome 9, 12704589: 12704589
2 TYRP1 NM_000550.2(TYRP1): c.1145T> C (p.Leu382Pro) single nucleotide variant Likely pathogenic rs776174514 GRCh38 Chromosome 9, 12704589: 12704589
3 TYRP1 NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs121912778 GRCh38 Chromosome 9, 12704564: 12704564
4 TYRP1 NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln) single nucleotide variant Pathogenic/Likely pathogenic rs281865424 GRCh37 Chromosome 9, 12702424: 12702424
5 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh37 Chromosome 9, 12704547: 12704547
6 TYRP1 NM_000550.2(TYRP1): c.1103delA (p.Lys368Serfs) deletion Pathogenic rs387906560 GRCh38 Chromosome 9, 12704547: 12704547
7 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh37 Chromosome 9, 12695626: 12695626
8 TYRP1 NM_000550.2(TYRP1): c.497C> G (p.Ser166Ter) single nucleotide variant Pathogenic rs104894130 GRCh38 Chromosome 9, 12695626: 12695626
9 TYRP1 NM_000550.2(TYRP1): c.1120C> T (p.Arg374Ter) single nucleotide variant Pathogenic rs121912778 GRCh37 Chromosome 9, 12704564: 12704564
10 TYRP1 NM_000550.2(TYRP1): c.1067G> A (p.Arg356Gln) single nucleotide variant Pathogenic/Likely pathogenic rs281865424 GRCh38 Chromosome 9, 12702424: 12702424
11 TYRP1 NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs) deletion Pathogenic rs387906561 GRCh37 Chromosome 9, 12694103: 12694103
12 TYRP1 NM_000550.2(TYRP1): c.107delT (p.Leu36Terfs) deletion Pathogenic rs387906561 GRCh38 Chromosome 9, 12694103: 12694103
13 TYRP1 NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs) deletion Pathogenic rs387906562 GRCh37 Chromosome 9, 12702414: 12702417
14 TYRP1 NM_000550.2(TYRP1): c.1057_1060delAACA (p.Asn353Valfs) deletion Pathogenic rs387906562 GRCh38 Chromosome 9, 12702414: 12702417
15 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh38 Chromosome 9, 12704706: 12704706
16 TYRP1 NM_000550.2(TYRP1): c.1261+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140365820 GRCh37 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 12.44 EDNRB FGFR2 KIT KITLG MITF
2 11.56 DCT FGFR2 MITF PAX3 SOX10
3
Show member pathways
11.31 DCT TYR TYRP1
4 10.97 KIT KITLG MITF PAX3 SOX10
5 10.57 KIT KITLG
6 9.72 DCT 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 9.56 CANX DCT GPR143 MLANA MYO5A SLC24A5
2 melanosome membrane GO:0033162 9.1 DCT GPR143 OCA2 SLC45A2 TYR TYRP1
3 membrane GO:0016020 10.16 CANX DCT EDNRB FGFR2 GJB2 GPR143
4 integral component of membrane GO:0016021 10 CANX DCT EDNRB FGFR2 GJB2 GPR143

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 EDN3 EDNRB FGFR2 KIT KITLG
2 visual perception GO:0007601 9.87 GPR143 MYO5A SLC45A2 TYR
3 phosphatidylinositol phosphorylation GO:0046854 9.78 FGFR2 KIT KITLG
4 negative regulation of apoptotic process GO:0043066 9.78 EDNRB KITLG MITF SOX10
5 positive regulation of MAP kinase activity GO:0043406 9.73 EDN3 KIT KITLG
6 melanin biosynthetic process GO:0042438 9.73 DCT MYO5A OCA2 SLC45A2 TYR TYRP1
7 neural crest cell migration GO:0001755 9.67 EDN3 EDNRB KITLG SOX10
8 developmental pigmentation GO:0048066 9.63 DCT EDNRB KIT MYO5A OCA2 SLC45A2
9 melanosome transport GO:0032402 9.62 GPR143 MYO5A
10 melanosome organization GO:0032438 9.61 GPR143 TYRP1
11 melanocyte differentiation GO:0030318 9.61 EDN3 EDNRB KIT LRMDA MITF MYO5A
12 vasoconstriction GO:0042310 9.6 EDN3 EDNRB
13 embryonic hemopoiesis GO:0035162 9.59 KIT KITLG
14 enteric nervous system development GO:0048484 9.58 EDNRB SOX10
15 ectopic germ cell programmed cell death GO:0035234 9.55 KIT KITLG
16 lacrimal gland development GO:0032808 9.54 FGFR2 SOX10
17 regulation of developmental pigmentation GO:0048070 9.52 EDN3 KIT
18 melanosome localization GO:0032400 9.51 GPR143 MYO5A
19 eye pigment biosynthetic process GO:0006726 9.5 GPR143 OCA2 TYR
20 vein smooth muscle contraction GO:0014826 9.49 EDN3 EDNRB
21 melanin metabolic process GO:0006582 9.46 MYO5A TYRP1
22 ventricular zone neuroblast division GO:0021847 9.43 DCT FGFR2
23 melanin biosynthetic process from tyrosine GO:0006583 9.4 DCT TYR
24 pigmentation GO:0043473 9.23 DCT EDNRB KIT MITF MYO5A OCA2

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 FGFR2 KIT KITLG
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 FGFR2 KIT KITLG

Sources for Albinism, Oculocutaneous, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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