OCA3
MCID: ALB020
MIFTS: 49

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 56 13 39 71
Oculocutaneous Albinism Type 3 74 52 58 29 6 71
Rufous Oculocutaneous Albinism 56 12 52 58 73
Oca3 56 12 52 58 73
Oculocutaneous Albinism Type Iii 12 73 15
Xanthism 56 52 73
Roca 56 52 73
Albinism Iii 56 73
Rufous Oculocutaneous Albinism; Roca 56
Oculocutaneous Albinism, Type Iii 56
Albinism, Oculocutaneous, Type 3 52
Xanthous Oculocutaneous Albinism 58
Red Oculocutaneous Albinism 58
Albinism, Oculocutaneous, 3 73
Albinism 3 52
Rufous Oca 52
Oca-Iii 73

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 3
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
albinism, oculocutaneous, type iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070097
OMIM 56 203290
OMIM Phenotypic Series 56 PS203100
MeSH 43 D016115
MESH via Orphanet 44 C537189 C537731
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C0342683 C2931599
Orphanet 58 ORPHA79433
UMLS 71 C0342683 C2931599

Summaries for Albinism, Oculocutaneous, Type Iii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79433 Definition Type 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. Epidemiology OCA3 has an estimated prevalence of 1/8,500 individuals in Africa. It is rarely seen in other populations. Clinical description Visual 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. Etiology OCA3 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 counseling OCA3 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 albinism, oculocutaneous, type ii. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Tyrosine metabolism. The drugs Azithromycin and Norepinephrine have been mentioned in the context of this disorder. 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 : 73 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 : 74 Albinism is the "congenital absence of any pigmentation or coloration in a person, animal or plant,... more...

More information from OMIM: 203290 PS203100

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 53)
# Related Disease Score Top Affiliating Genes
1 albinism 29.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
2 albinism, oculocutaneous, type ii 28.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 HPS6
3 albinism, oculocutaneous, type ib 28.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
4 oculocutaneous albinism 27.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
5 albinism, oculocutaneous, type iv 26.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
6 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.7
7 ovarian cancer 10.4
8 pharyngitis 10.4
9 fasciitis 10.4
10 necrotizing fasciitis 10.4
11 autosomal recessive disease 10.2
12 ochronosis 10.2 TYRP1 TYR
13 dowling-degos disease 1 10.1 TYRP1 TYR
14 epicanthus 10.1
15 myositis 10.1
16 uvula, bifid 10.1
17 ohdo syndrome 10.1
18 endometrial cancer 10.1
19 atrial fibrillation 10.1
20 ptosis 10.1
21 rheumatic fever 10.1
22 colon adenocarcinoma 10.1
23 osteochondrosis 10.1
24 rapidly involuting congenital hemangioma 10.1
25 aland island eye disease 10.0 LRMDA GPR143
26 waardenburg syndrome, type 2c 9.9 TYRP1 DCT
27 ichthyosis, congenital, autosomal recessive 11 9.9 SLC45A2 SLC24A5
28 congenital nystagmus 9.9 TYR OCA2 GPR143
29 hermansky-pudlak syndrome 5 9.9 HPS6 BLOC1S1
30 syndromic oculocutaneous albinism 9.9 SLC24A5 OCA2 HPS6
31 autosomal recessive congenital ichthyosis 9.8 SLC45A2 SLC24A5 OCA2
32 acute contagious conjunctivitis 9.8 TYRP1 TYR SLC45A2 OCA2
33 acute conjunctivitis 9.8 TYRP1 TYR SLC45A2 OCA2
34 piebald trait 9.8 TYRP1 TYR SLC45A2 OCA2
35 vogt-koyanagi-harada disease 9.8 TYRP1 TYR
36 amelanotic melanoma 9.8 TYRP1 TYR DCT
37 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 TYRP1 TYR DCT
38 waardenburg's syndrome 9.7 TYRP1 TYR DCT
39 strabismus 9.6 TYRP1 TYR SLC24A5 GPR143
40 storage pool platelet disease 9.6 HPS6 BLOC1S3 BLOC1S1
41 griscelli syndrome, type 1 9.6 HPS6 BLOC1S3 BLOC1S1
42 arthrogryposis, renal dysfunction, and cholestasis 1 9.6 HPS6 BLOC1S3 BLOC1S1
43 albinism, oculocutaneous, type vii 9.5 SLC45A2 SLC24A5 OCA2 LRMDA GPR143
44 chediak-higashi syndrome 9.4 TYRP1 TYR DCT BLOC1S1
45 skin carcinoma 9.4 TYRP1 TYR ASIP
46 tietz albinism-deafness syndrome 9.4 TYRP1 TYR SLC45A2 OCA2 DCT
47 melanoma 9.4 TYRP1 TYR SLC45A2 OCA2 DCT
48 albinism, oculocutaneous, type v 9.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
49 melanoma, cutaneous malignant 1 8.7 TYRP1 TYR SLC45A2 OCA2 DCT ASIP
50 ocular albinism 8.6 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
3 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
4 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
5 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
6 red hair 58 31 frequent (33%) Frequent (79-30%) HP:0002297
7 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
8 hypopigmentation of hair 58 Frequent (79-30%)
9 partial albinism 31 HP:0007443
10 hypopigmentation of the skin 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ASIP BLOC1S3 LRMDA OCA2 SLC24A5 SLC45A2
2 growth/size/body region MP:0005378 9.97 ASIP BLOC1S3 HPS6 OCA2 SLC24A5 SLC45A2
3 craniofacial MP:0005382 9.95 ASIP BLOC1S3 HPS6 OCA2 SLC24A5 TYR
4 homeostasis/metabolism MP:0005376 9.91 ASIP BLOC1S1 DCT HPS6 OCA2 SLC24A5
5 hearing/vestibular/ear MP:0005377 9.87 ASIP BLOC1S3 HPS6 OCA2 SLC24A5 TYR
6 integument MP:0010771 9.81 ASIP BLOC1S3 DCT HPS6 OCA2 SLC24A5
7 pigmentation MP:0001186 9.7 ASIP BLOC1S1 BLOC1S3 DCT GPR143 HPS6
8 vision/eye MP:0005391 9.36 ASIP BLOC1S1 BLOC1S3 DCT GPR143 HPS6

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Iii

Drugs for Albinism, Oculocutaneous, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 447043 55185
2
Norepinephrine Approved 51-41-2 439260
3
Progesterone Approved, Vet_approved 57-83-0 5994
4
Deslorelin Investigational, Vet_approved 57773-65-6
5 Calamus
6 insulin
7 Insulin, Globin Zinc
8 Hypoglycemic Agents
9 Estrogens
10
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pre-delivery Administration of Azithromycin to Prevent Neonatal Sepsis and Death: a Phase III Double-blind Randomized Clinical Trial Recruiting NCT03199547 Phase 3 Azithromycin;Placebo Oral Tablet
2 Ovarian Cancer Screening Pilot Trial in High Risk Women Unknown status NCT00039559
3 Impact of Obstructive Sleep Apnea Syndrome on Metabolic Syndrome in Severe Obesity Unknown status NCT01029561
4 PletHysmographic Variation InDex to pRedict Fluid Responsiveness in Spontaneously breAThing patiEnts Treated With High Flow Nasal Cannula Completed NCT03817996
5 Prospective Study of Prophylactic Salpingo-Oophorectomy and Longitudinal CA-125 Screening Among Women at Increased Genetic Risk of Ovarian Cancer Completed NCT00043472
6 Correlation of Circulating Irisin and Adipokine Levels Across a Broad Spectrum of Body Mass Index Ranging From Undernourished to Obese and With Insulin Resistance and Risk Factors for the Metabolic Syndrome in Hispanic Children Completed NCT02320110
7 The Obesity-Hypoventilation Syndrome: A Study Of Clinical Characteristics And Predictive Factors Of Response To Treatment With Continuous Positive Airway Pressure (CPAP) And Non-Invasive Ventilation (NIV) Completed NCT00938977
8 5HT1A and SERT Imaging During Pharmacologically Induced Hypogonadotropic Hypogonadism With and Without Estrogen and Progesterone Replacement Completed NCT00100360

Search 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:

40
Skin, Eye, Retina

Publications for Albinism, Oculocutaneous, Type Iii

Articles related to Albinism, Oculocutaneous, Type Iii:

(show all 15)
# Title Authors PMID Year
1
A case of Asian Indian OCA3 patient. 6 56
19533799 2009
2
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 6 56
16704458 2006
3
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. 56 6
15996218 2005
4
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. 56 6
9345097 1997
5
Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". 6 56
8651291 1996
6
Synergistic interaction of the OCA2 and OCA3 genes in a family. 6
18680187 2008
7
Segregation analysis of brown oculocutaneous albinism. 56
3742854 1986
8
Albinism in Nigeria with delineation of new recessive oculocutaneous type. 56
6768477 1980
9
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3. 61
30347088 2018
10
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. 61
21996312 2011
11
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. 61
21739261 2011
12
Complex interactions of Tyrp1 in the eye. 61
21976956 2011
13
Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity. 61
14634018 2004
14
Tyrp1 and oculocutaneous albinism type 3. 61
11775055 2001
15
Mutant alleles at the brown locus encoding tyrosinase-related protein-1 (TRP-1) affect proliferation of mouse melanocytes in culture. 61
11041210 2000

Variations for Albinism, Oculocutaneous, Type Iii

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYRP1 NM_000550.3(TYRP1):c.1103del (p.Lys368fs)deletion Pathogenic 17593 rs387906560 9:12704547-12704547 9:12704547-12704547
2 TYRP1 NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)SNV Pathogenic 17594 rs104894130 9:12695626-12695626 9:12695626-12695626
3 TYRP1 NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)SNV Pathogenic 17595 rs121912778 9:12704564-12704564 9:12704564-12704564
4 TYRP1 NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer)deletion Pathogenic 17597 rs387906561 9:12694103-12694103 9:12694103-12694103
5 TYRP1 NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)deletion Pathogenic 17598 rs387906562 9:12702414-12702417 9:12702414-12702417
6 TYRP1 NM_000550.3(TYRP1):c.1261+1G>ASNV Pathogenic/Likely pathogenic 437186 rs140365820 9:12704706-12704706 9:12704706-12704706
7 TYRP1 NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)SNV Pathogenic/Likely pathogenic 17596 rs281865424 9:12702424-12702424 9:12702424-12702424
8 TYRP1 NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro)SNV Likely pathogenic 212527 rs776174514 9:12704589-12704589 9:12704589-12704589

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

73
# Symbol AA change Variation ID SNP ID
1 TYRP1 p.Arg356Gln VAR_026828 rs281865424
2 TYRP1 p.Ala24Thr VAR_072599 rs61758405

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
12.23 TYRP1 TYR DCT ASIP
2
Show member pathways
11.01 TYRP1 TYR DCT
3 9.72 TYRP1 TYR SLC45A2 OCA2 DCT

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 lysosome GO:0005764 9.56 TYR HPS6 GPR143 BLOC1S1
2 lysosomal membrane GO:0005765 9.46 OCA2 HPS6 GPR143 BLOC1S1
3 axon cytoplasm GO:1904115 9.37 BLOC1S3 BLOC1S1
4 melanosome GO:0042470 9.35 TYRP1 TYR SLC24A5 GPR143 DCT
5 BLOC-1 complex GO:0031083 9.32 BLOC1S3 BLOC1S1
6 melanosome membrane GO:0033162 9.1 TYRP1 TYR SLC45A2 OCA2 GPR143 DCT

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.71 TYR SLC45A2 GPR143
2 melanocyte differentiation GO:0030318 9.65 TYRP1 SLC24A5 OCA2 LRMDA HPS6
3 developmental pigmentation GO:0048066 9.62 SLC45A2 OCA2 DCT BLOC1S3
4 melanosome transport GO:0032402 9.58 GPR143 BLOC1S3 ASIP
5 melanosome organization GO:0032438 9.55 TYRP1 GPR143 BLOC1S3 BLOC1S1 ASIP
6 eye pigment biosynthetic process GO:0006726 9.54 TYR OCA2 GPR143
7 anterograde axonal transport GO:0008089 9.52 BLOC1S3 BLOC1S1
8 lysosome localization GO:0032418 9.51 HPS6 BLOC1S1
9 anterograde synaptic vesicle transport GO:0048490 9.49 BLOC1S3 BLOC1S1
10 platelet dense granule organization GO:0060155 9.48 BLOC1S3 BLOC1S1
11 positive regulation of melanin biosynthetic process GO:0048023 9.46 TYRP1 ASIP
12 melanin biosynthetic process from tyrosine GO:0006583 9.43 TYR DCT
13 melanin biosynthetic process GO:0042438 9.43 TYRP1 TYR SLC45A2 OCA2 DCT ASIP
14 pigmentation GO:0043473 9.17 TYRP1 TYR OCA2 HPS6 DCT BLOC1S3

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 TYR DCT
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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