MCID: ALB020
MIFTS: 29

Albinism, Oculocutaneous, Type Iii

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic 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
Xanthism 57 53 75
Roca 57 53 75
Oculocutaneous Albinism Type Iii 12 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 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia and albinism. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1). Affiliated tissues include skin and eye, and related phenotypes are strabismus and nystagmus

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 in humans is a congenital disorder characterized by the complete or partial absence of pigment... 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:

# Related Disease Score Top Affiliating Genes
1 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia 11.1
2 albinism 10.2
3 oculocutaneous albinism 10.1
4 osteochondrosis 10.0

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

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 29 TYRP1

Anatomical Context for Albinism, Oculocutaneous, Type Iii

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

41
Skin, Eye

Publications for Albinism, Oculocutaneous, Type Iii

Articles related to Albinism, Oculocutaneous, Type Iii:

# Title Authors Year
1
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. ( 21996312 )
2011
2
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients. ( 21739261 )
2011
3
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 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

GO Terms for Albinism, Oculocutaneous, Type Iii

Sources for Albinism, Oculocutaneous, Type Iii

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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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