OCA1A
MCID: ALB009
MIFTS: 53

Albinism, Oculocutaneous, Type Ia (OCA1A)

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ia

MalaCards integrated aliases for Albinism, Oculocutaneous, Type Ia:

Name: Albinism, Oculocutaneous, Type Ia 57 13 39
Oculocutaneous Albinism Type 1 73 20 58 29 6 70
Oca1a 57 12 20 58 72
Oculocutaneous Albinism, Tyrosinase-Negative 57 12 54
Tyrosinase-Negative Oculocutaneous Albinism 58 29 6
Oca1 57 20 58
Atn 57 20 72
Oculocutaneous Albinism Type Ia 12 15
Oculocutaneous Albinism Type 1a 20 58
Albinism I 57 72
Oculocutaneous Albinism, Tyrosinase-Negative; Atn 57
Oculocutaneous Albinism, Tyrosinase Negative 20
Oculocutaneous Albinism Tyrosinase Negative 72
Oculocutaneous Albinism, Type I; Oca1 57
Albinism, Oculocutaneous, Type I 39
Oculocutaneous Albinism, Type I 57
Albinism, Oculocutaneous, 1a 72
Albinism Oculocutaneous Ia 72
Albinism 1 20
Oca-1a 72
Oca-Ia 72

Characteristics:

Orphanet epidemiological data:

58
oculocutaneous albinism type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
oculocutaneous albinism type 1a
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
congenital onset
complete absence of melanin synthesis
pigment does not develop with age
prevalence of 1 in 28,000 caucasians
prevalence of 1 in 28,000 african-americans
one of the 2 most common forms of albinism in the world, along with oca2
see also oca1b, or 'yellow albinism,' an allelic disorder with residual tyrosinase activity and some pigmentation

Inheritance:
autosomal recessive


HPO:

31
albinism, oculocutaneous, type ia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

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


Summaries for Albinism, Oculocutaneous, Type Ia

OMIM® : 57 Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus (King et al., 2001). Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B. (203100) (Updated 05-Apr-2021)

MalaCards based summary : Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ii and amelanotic melanoma, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways are Phenylalanine metabolism and Melanin biosynthesis. Affiliated tissues include eye, retina and skin, and related phenotypes are nystagmus and abnormality of visual evoked potentials

Disease Ontology : 12 An oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.

GARD : 20 Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.

UniProtKB/Swiss-Prot : 72 Albinism, oculocutaneous, 1A: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.

Wikipedia : 73 Oculocutaneous albinism type I or type 1A is an autosomal recessive skin disease. This subtype of... more...

Related Diseases for Albinism, Oculocutaneous, Type Ia

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
Oculocutaneous Albinism, Type Viii

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 30.7 TYRP1 TYR SLC45A2 SLC24A5 OCA2
2 amelanotic melanoma 30.2 TYRP1 TYR
3 albinism, oculocutaneous, type ib 30.1 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
4 albinism, oculocutaneous, type v 29.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
5 skin melanoma 29.7 TYRP1 TYR SLC45A2 OCA2
6 hermansky-pudlak syndrome 1 29.7 SLC45A2 SLC24A5 OCA2
7 skin carcinoma 29.6 TYRP1 TYR SLC45A2 OCA2
8 strabismus 29.5 TYRP1 TYR SLC24A5 GPR143
9 congenital nystagmus 29.5 TYR OCA2 GPR143
10 chediak-higashi syndrome 29.3 TYRP1 TYR
11 piebald trait 29.3 TYRP1 TYR SLC45A2 OCA2
12 waardenburg's syndrome 29.3 TYRP1 TYR SLC45A2 OCA2
13 oculocutaneous albinism 28.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
14 albinism 28.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
15 albinism, oculocutaneous, type iv 28.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
16 ocular albinism 28.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
17 pathologic nystagmus 28.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
18 hermansky-pudlak syndrome 27.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 KXD1
19 albinism, oculocutaneous, type iii 27.8 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
20 acute kidney tubular necrosis 11.5
21 nystagmus 1, congenital, x-linked 11.0
22 minimal pigment oculocutaneous albinism type 1 11.0
23 albinism, oculocutaneous, type vi 10.9
24 eye disease 10.3
25 alzheimer disease 10.3
26 hypopigmentation of the skin 10.3
27 inherited metabolic disorder 10.2
28 acute kidney failure 10.2
29 mechanical strabismus 10.2
30 dementia 10.2
31 storage pool platelet disease 10.1
32 trichomegaly 10.1
33 glaucoma 3, primary congenital, a 10.1
34 papillon-lefevre syndrome 10.1
35 abnormal hair, joint laxity, and developmental delay 10.1
36 hermansky-pudlak syndrome 3 10.1
37 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
38 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
39 ifap syndrome 2 10.1
40 primary congenital glaucoma 10.1
41 mild cognitive impairment 10.1
42 syndromic oculocutaneous albinism 10.1 SLC24A5 OCA2
43 ochronosis 10.1 TYRP1 TYR
44 myopia 10.0
45 kidney disease 10.0
46 myopic macular degeneration 10.0
47 cataract 18 10.0 TYRP1 OCA2
48 autosomal recessive disease 10.0
49 dowling-degos disease 1 10.0 TYRP1 TYR
50 nystagmus 7, congenital, autosomal dominant 10.0 TYR GPR143

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



Diseases related to Albinism, Oculocutaneous, Type Ia

Symptoms & Phenotypes for Albinism, Oculocutaneous, Type Ia

Human phenotypes related to Albinism, Oculocutaneous, Type Ia:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000639
2 abnormality of visual evoked potentials 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000649
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000613
4 blue irides 58 31 hallmark (90%) Very frequent (99-80%) HP:0000635
5 generalized hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007513
6 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
7 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
8 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007730
9 hypoplasia of the fovea 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007750
10 generalized hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011358
11 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
12 optic nerve misrouting 58 31 hallmark (90%) Very frequent (99-80%) HP:0025551
13 iris transillumination defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0012805
14 depigmented fundus 58 31 hallmark (90%) Very frequent (99-80%) HP:0007680
15 abnormal morphology of the choroidal vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0025568
16 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
17 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
18 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
19 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
20 white eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002226
21 white eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0002227
22 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
23 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
24 thickened skin 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001072
25 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
26 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
27 actinic keratosis 58 31 very rare (1%) Very rare (<4-1%) HP:0025127
28 reduced visual acuity 58 31 Very frequent (99-80%) HP:0007663
29 myopia 31 HP:0000545
30 hypopigmentation of hair 58 Very frequent (99-80%)
31 neoplasm of the skin 58 Very rare (<4-1%)
32 white hair 31 HP:0011364
33 astigmatism 31 HP:0000483
34 hypopigmentation of the skin 58 Very frequent (99-80%)
35 absent skin pigmentation 31 HP:0200098
36 exotropia 31 HP:0000577

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
photophobia
strabismus
foveal hypoplasia
decreased visual acuity
more
Skin Nails Hair Skin:
absent skin pigmentation
milky white skin
no ability to tan

Skin Nails Hair Hair:
white hair

Laboratory Abnormalities:
absent tyrosinase activity

Clinical features from OMIM®:

203100 (Updated 05-Apr-2021)

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 BLOC1S3 LRMDA OCA2 SLC24A5 SLC45A2 TYR
2 craniofacial MP:0005382 9.72 BLOC1S3 OCA2 SLC24A5 TYR TYRP1
3 hearing/vestibular/ear MP:0005377 9.65 BLOC1S3 OCA2 SLC24A5 TYR TYRP1
4 integument MP:0010771 9.63 BLOC1S3 OCA2 SLC24A5 SLC45A2 TYR TYRP1
5 pigmentation MP:0001186 9.56 BLOC1S3 GPR143 KXD1 OCA2 SLC24A5 SLC45A2
6 vision/eye MP:0005391 9.23 BLOC1S3 GPR143 KXD1 OCA2 SLC24A5 SLC45A2

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ia

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

Genetic Tests for Albinism, Oculocutaneous, Type Ia

Genetic tests related to Albinism, Oculocutaneous, Type Ia:

# Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 1 29
2 Tyrosinase-Negative Oculocutaneous Albinism 29 TYR

Anatomical Context for Albinism, Oculocutaneous, Type Ia

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

40
Eye, Retina, Skin

Publications for Albinism, Oculocutaneous, Type Ia

Articles related to Albinism, Oculocutaneous, Type Ia:

(show top 50) (show all 142)
# Title Authors PMID Year
1
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 54 57 6
1832718 1991
2
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 57 6
23504663 2013
3
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 57 6
13680365 2003
4
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. 57 6
2511845 1989
5
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 57 6
666627 1978
6
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 61 6
19208379 2009
7
Oculocutaneous albinism type 1: the last 100 years. 61 6
12753405 2003
8
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). 54 6
9259202 1997
9
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
10
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 6
28451379 2017
11
Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase. 6
25703744 2015
12
Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. 6
26167114 2015
13
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 57
23364476 2013
14
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
15
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 6
22294196 2012
16
Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type. 6
21985232 2012
17
Molecular analysis of Korean patients with oculocutaneous albinism. 6
22042571 2012
18
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism. 6
21458243 2011
19
Molecular and clinical characterization of albinism in a large cohort of Italian patients. 6
20861488 2011
20
Oculocutaneous albinism spectrum. 6
19533789 2009
21
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 57
19060277 2009
22
A new hypothesis of OCA1B. 6
18925668 2008
23
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 6
18463683 2008
24
Two newly identified genetic determinants of pigmentation in Europeans. 6
18488028 2008
25
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 6
18488027 2008
26
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
27
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6
17952075 2007
28
Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. 6
16570240 2006
29
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 6
15146472 2004
30
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. 57
15059699 2004
31
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 57
12506050 2003
32
Optical coherence tomography in the diagnosis of foveal hypoplasia. 57
12427081 2002
33
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. 57
11860983 2002
34
Modifier genes in mice and humans. 57
11256068 2001
35
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
36
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 6
9158138 1997
37
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
38
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. 57
7937580 1994
39
Ophthalmic features of minimal pigment oculocutaneous albinism. 57
8190479 1994
40
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 6
8128955 1994
41
Molecular genetics of oculocutaneous albinism. 6
7849740 1994
42
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. 57
8477259 1993
43
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 6
8434585 1993
44
Mutational mapping of the catalytic activities of human tyrosinase. 6
1429711 1992
45
Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. 57
1495987 1992
46
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. 57
1509264 1992
47
Prevalence of congenital anomaly syndromes in a Spanish gypsy population. 57
1640427 1992
48
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 6
1642278 1992
49
Variable expression of vision in sibs with albinism. 57
1951438 1991
50
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 6
1905879 1991

Variations for Albinism, Oculocutaneous, Type Ia

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

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYR NM_000372.5(TYR):c.533G>A (p.Trp178Ter) SNV Pathogenic 3784 rs61754360 GRCh37: 11:88911654-88911654
GRCh38: 11:89178486-89178486
2 TYR NM_000372.5(TYR):c.572del (p.Gly191fs) Deletion Pathogenic 99570 rs61754361 GRCh37: 11:88911689-88911689
GRCh38: 11:89178521-89178521
3 TYR NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) SNV Pathogenic 3786 rs104894315 GRCh37: 11:88961100-88961100
GRCh38: 11:89227932-89227932
4 TYR NM_000372.5(TYR):c.125A>G (p.Asp42Gly) SNV Pathogenic 3789 rs28940878 GRCh37: 11:88911246-88911246
GRCh38: 11:89178078-89178078
5 TYR NM_000372.5(TYR):c.616G>A (p.Ala206Thr) SNV Pathogenic 3791 rs28940880 GRCh37: 11:88911737-88911737
GRCh38: 11:89178569-89178569
6 TYR NM_000372.5(TYR):c.896G>A (p.Arg299His) SNV Pathogenic 3796 rs61754375 GRCh37: 11:88924446-88924446
GRCh38: 11:89191278-89191278
7 TYR NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) SNV Pathogenic 3798 rs61754387 GRCh37: 11:88961066-88961066
GRCh38: 11:89227898-89227898
8 TYR NM_000372.5(TYR):c.1164del (p.His389fs) Deletion Pathogenic 3799 rs281865522 GRCh37: 11:88961117-88961117
GRCh38: 11:89227949-89227949
9 TYR NM_000372.5(TYR):c.1501dup (p.Arg501fs) Duplication Pathogenic 3804 rs281865328 GRCh37: 11:89028444-89028445
GRCh38: 11:89295276-89295277
10 TYR NM_000372.5(TYR):c.707G>A (p.Trp236Ter) SNV Pathogenic 3805 rs61754367 GRCh37: 11:88911828-88911828
GRCh38: 11:89178660-89178660
11 TYR NM_000372.5(TYR):c.646T>A (p.Leu216Met) SNV Pathogenic 3806 rs61754363 GRCh37: 11:88911767-88911767
GRCh38: 11:89178599-89178599
12 TYR NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) SNV Pathogenic 39977 rs137854890 GRCh37: 11:88911393-88911393
GRCh38: 11:89178225-89178225
13 TYR NM_000372.5(TYR):c.658C>T (p.Gln220Ter) SNV Pathogenic 212523 rs797046083 GRCh37: 11:88911779-88911779
GRCh38: 11:89178611-89178611
14 TYR NM_000372.5(TYR):c.982G>A (p.Glu328Lys) SNV Pathogenic 212525 rs61754380 GRCh37: 11:88924532-88924532
GRCh38: 11:89191364-89191364
15 TYR NM_000372.5(TYR):c.661G>A (p.Glu221Lys) SNV Pathogenic 212524 rs758115945 GRCh37: 11:88911782-88911782
GRCh38: 11:89178614-89178614
16 TYR NM_000372.5(TYR):c.820-3C>G SNV Pathogenic 99582 rs61754371 GRCh37: 11:88924367-88924367
GRCh38: 11:89191199-89191199
17 TYR NM_000372.5(TYR):c.1064C>T (p.Ala355Val) SNV Pathogenic 212520 rs151206295 GRCh37: 11:88961018-88961018
GRCh38: 11:89227850-89227850
18 TYR NM_000372.5(TYR):c.229C>T (p.Arg77Trp) SNV Pathogenic 99553 rs61753184 GRCh37: 11:88911350-88911350
GRCh38: 11:89178182-89178182
19 TYR NM_000372.5(TYR):c.1037-1G>A SNV Pathogenic 99526 rs61754382 GRCh37: 11:88960990-88960990
GRCh38: 11:89227822-89227822
20 TYR NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) SNV Pathogenic 437175 rs765329261 GRCh37: 11:88911874-88911874
GRCh38: 11:89178706-89178706
21 TYR NM_000372.5(TYR):c.880G>A (p.Glu294Lys) SNV Pathogenic 437177 rs757754120 GRCh37: 11:88924430-88924430
GRCh38: 11:89191262-89191262
22 TYR NM_000372.5(TYR):c.613C>A (p.Pro205Thr) SNV Pathogenic 99572 rs61754362 GRCh37: 11:88911734-88911734
GRCh38: 11:89178566-89178566
23 TYR NM_000372.5(TYR):c.895C>A (p.Arg299Ser) SNV Pathogenic 99587 rs61754374 GRCh37: 11:88924445-88924445
GRCh38: 11:89191277-89191277
24 TYR NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) SNV Pathogenic 585280 rs1031268531 GRCh37: 11:88924530-88924530
GRCh38: 11:89191362-89191362
25 TYR NM_000372.5(TYR):c.1267del (p.Glu423fs) Deletion Pathogenic 585282 rs1565423674 GRCh37: 11:89018021-89018021
GRCh38: 11:89284853-89284853
26 TYR NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) Indel Pathogenic 585290 rs1565386582 GRCh37: 11:88911508-88911510
GRCh38: 11:89178340-89178342
27 TYR NM_000372.5(TYR):c.714G>A (p.Trp238Ter) SNV Pathogenic 620587 rs1565386964 GRCh37: 11:88911835-88911835
GRCh38: 11:89178667-89178667
28 TYR NM_000372.5(TYR):c.1110G>A (p.Met370Ile) SNV Pathogenic 625851 rs1207709557 GRCh37: 11:88961064-88961064
GRCh38: 11:89227896-89227896
29 TYR NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del Deletion Pathogenic 627598 GRCh37: 11:88911941-89017940
GRCh38: 11:89178773-89284772
30 TYR NM_000372.5(TYR):c.1456del (p.Ala486fs) Deletion Pathogenic 637017 rs1590909462 GRCh37: 11:89028397-89028397
GRCh38: 11:89295229-89295229
31 TYR NM_000372.5(TYR):c.391_393del (p.Lys131del) Deletion Pathogenic 800539 GRCh37: 11:88911510-88911512
GRCh38: 11:89178342-89178344
32 TYR NM_000372.5(TYR):c.1185-2A>G SNV Pathogenic 800543 GRCh37: 11:89017939-89017939
GRCh38: 11:89284771-89284771
33 TYR NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) SNV Pathogenic 627596 rs1590902378 GRCh37: 11:89018031-89018031
GRCh38: 11:89284863-89284863
34 TYR NM_000372.5(TYR):c.74dup (p.Ser26fs) Duplication Pathogenic 373911 rs1057518763 GRCh37: 11:88911194-88911195
GRCh38: 11:89178026-89178027
35 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) SNV Pathogenic 3775 rs121908011 GRCh37: 11:88961101-88961101
GRCh38: 11:89227933-89227933
36 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) SNV Pathogenic 3790 rs28940879 GRCh37: 11:88911285-88911285
GRCh38: 11:89178117-89178117
37 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
38 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter) SNV Pathogenic 99565 rs61753256 GRCh37: 11:88911467-88911467
GRCh38: 11:89178299-89178299
39 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) SNV Pathogenic 3775 rs121908011 GRCh37: 11:88961101-88961101
GRCh38: 11:89227933-89227933
40 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) SNV Pathogenic 3775 rs121908011 GRCh37: 11:88961101-88961101
GRCh38: 11:89227933-89227933
41 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) SNV Pathogenic 99541 rs62645916 GRCh37: 11:89017955-89017955
GRCh38: 11:89284787-89284787
42 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
43 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) SNV Pathogenic 3790 rs28940879 GRCh37: 11:88911285-88911285
GRCh38: 11:89178117-89178117
44 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter) SNV Pathogenic 99565 rs61753256 GRCh37: 11:88911467-88911467
GRCh38: 11:89178299-89178299
45 TYR NM_000372.5(TYR):c.929dup (p.Arg311fs) Duplication Pathogenic 3771 rs281865527 GRCh37: 11:88924475-88924476
GRCh38: 11:89191307-89191308
46 TYR NM_000372.5(TYR):c.242C>T (p.Pro81Leu) SNV Pathogenic 3772 rs28940876 GRCh37: 11:88911363-88911363
GRCh38: 11:89178195-89178195
47 TYR NM_000372.5(TYR):c.823G>T (p.Val275Phe) SNV Pathogenic 3773 rs104894314 GRCh37: 11:88924373-88924373
GRCh38: 11:89191205-89191205
48 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp) SNV Pathogenic 3794 rs61753180 GRCh37: 11:88911261-88911261
GRCh38: 11:89178093-89178093
49 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp) SNV Pathogenic 3794 rs61753180 GRCh37: 11:88911261-88911261
GRCh38: 11:89178093-89178093
50 TYR NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) SNV Pathogenic 3801 rs104894317 GRCh37: 11:89018092-89018092
GRCh38: 11:89284924-89284924

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

72 (show top 50) (show all 101)
# Symbol AA change Variation ID SNP ID
1 TYR p.His19Gln VAR_007649 rs61753177
2 TYR p.Pro21Ser VAR_007650 rs61753178
3 TYR p.Asp42Gly VAR_007651 rs28940878
4 TYR p.Gly47Asp VAR_007652 rs61753180
5 TYR p.Cys55Tyr VAR_007654 rs28940879
6 TYR p.Arg77Gln VAR_007655 rs61753185
7 TYR p.Arg77Trp VAR_007656 rs61753184
8 TYR p.Trp80Arg VAR_007657 rs61753188
9 TYR p.Pro81Leu VAR_007658 rs28940876
10 TYR p.Cys89Arg VAR_007659 rs28940877
11 TYR p.Gly97Arg VAR_007660 rs61753252
12 TYR p.Phe176Ile VAR_007661 rs61753259
13 TYR p.Ala206Thr VAR_007663 rs28940880
14 TYR p.Leu216Met VAR_007664 rs61754363
15 TYR p.Arg217Gly VAR_007665 rs63159160
16 TYR p.Arg217Trp VAR_007666 rs63159160
17 TYR p.Arg217Gln VAR_007667 rs61754365
18 TYR p.Gly253Arg VAR_007668 rs61754369
19 TYR p.Val275Phe VAR_007669 rs104894314
20 TYR p.Cys289Arg VAR_007670 rs146804147
21 TYR p.Arg299His VAR_007671 rs61754375
22 TYR p.Arg299Ser VAR_007672 rs61754374
23 TYR p.Ser339Gly VAR_007676 rs62645906
24 TYR p.Ala355Pro VAR_007678 rs62645908
25 TYR p.Asn371Thr VAR_007679 rs61754387
26 TYR p.Thr373Lys VAR_007680 rs61754388
27 TYR p.Asn382Lys VAR_007682 rs104894315
28 TYR p.Asp383Asn VAR_007683 rs121908011
29 TYR p.Ser395Asn VAR_007685 rs752344007
30 TYR p.Arg403Ser VAR_007687 rs104894316
31 TYR p.Pro406Leu VAR_007689 rs104894313
32 TYR p.Gly419Arg VAR_007690 rs61754392
33 TYR p.Arg422Gln VAR_007691 rs61754393
34 TYR p.Gly446Ser VAR_007692 rs104894317
35 TYR p.Asp448Asn VAR_007693 rs104894318
36 TYR p.Leu288Ser VAR_007927 rs146310982
37 TYR p.Glu294Lys VAR_007928 rs757754120
38 TYR p.Glu328Gln VAR_007929 rs61754380
39 TYR p.Gly346Glu VAR_007930 rs773970123
40 TYR p.Ala355Glu VAR_007931
41 TYR p.Ser361Arg VAR_007932 rs61754383
42 TYR p.His367Tyr VAR_007933 rs776054795
43 TYR p.Met370Thr VAR_007934 rs61754385
44 TYR p.Asn371Tyr VAR_007935 rs61754386
45 TYR p.Val393Phe VAR_007936
46 TYR p.Pro431Leu VAR_007938 rs281865325
47 TYR p.Cys289Gly VAR_009237
48 TYR p.Trp400Leu VAR_009238 rs62645916
49 TYR p.Cys36Tyr VAR_021683 rs61753179
50 TYR p.Ser44Gly VAR_021684

Expression for Albinism, Oculocutaneous, Type Ia

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

Pathways for Albinism, Oculocutaneous, Type Ia

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

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

GO Terms for Albinism, Oculocutaneous, Type Ia

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.5 TYR KXD1 GPR143
2 lysosomal membrane GO:0005765 9.43 OCA2 KXD1 GPR143
3 melanosome GO:0042470 9.26 TYRP1 TYR SLC24A5 GPR143
4 BLOC-1 complex GO:0031083 9.16 KXD1 BLOC1S3
5 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 GPR143

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.61 TYR SLC45A2 GPR143
2 pigmentation GO:0043473 9.56 TYRP1 TYR OCA2 BLOC1S3
3 melanosome organization GO:0032438 9.54 TYRP1 GPR143 BLOC1S3
4 developmental pigmentation GO:0048066 9.5 SLC45A2 OCA2 BLOC1S3
5 melanosome transport GO:0032402 9.4 GPR143 BLOC1S3
6 eye pigment biosynthetic process GO:0006726 9.33 TYR OCA2 GPR143
7 melanocyte differentiation GO:0030318 9.26 TYRP1 SLC24A5 OCA2 LRMDA
8 melanin biosynthetic process GO:0042438 8.92 TYRP1 TYR SLC45A2 OCA2

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.96 TYRP1 TYR
2 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Albinism, Oculocutaneous, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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