OCA1A
MCID: ALB009
MIFTS: 54

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 58 13 41
Oculocutaneous Albinism Type 1 77 25 54 60 30 6 74
Oca1a 58 12 54 60 76
Oca1 58 25 54 60
Oculocutaneous Albinism, Tyrosinase-Negative 58 12 56
Tyrosinase-Negative Oculocutaneous Albinism 60 30 6
Atn 58 54 76
Oculocutaneous Albinism Type Ia 12 15
Oculocutaneous Albinism Type 1a 54 60
Albinism I 58 76
Oculocutaneous Albinism, Tyrosinase-Negative; Atn 58
Oculocutaneous Albinism, Tyrosinase Negative 54
Oculocutaneous Albinism Tyrosinase Negative 76
Oculocutaneous Albinism, Type I; Oca1 58
Albinism, Oculocutaneous, Type I 41
Oculocutaneous Albinism, Type I 58
Albinism, Oculocutaneous, 1a 76
Albinism Oculocutaneous Ia 76
Albinism 1 54
Oca-1a 76
Oca-Ia 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
albinism, oculocutaneous, type ia:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Albinism, Oculocutaneous, Type Ia

OMIM : 58 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)

MalaCards based summary : Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ib and albinism, oculocutaneous, type ii, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways are Tyrosine metabolism and Melanin biosynthesis. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and photophobia

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.

NIH Rare Diseases : 54 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 : 76 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 : 77 Oculocutaneous albinism type I or type 1A is an autosomal recessive skin disease. This subtype of... more...

GeneReviews: NBK1166

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

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ib 32.0 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
2 albinism, oculocutaneous, type ii 31.0 OCA2 SLC24A5 SLC45A2 TYR TYRP1
3 albinism, oculocutaneous, type v 30.7 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
4 ocular albinism 30.1 OCA2 SLC45A2 TYR TYRP1
5 albinism 29.5 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
6 oculocutaneous albinism 29.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
7 congenital nystagmus 29.4 OCA2 PAX6 TYR
8 minimal pigment oculocutaneous albinism type 1 12.4
9 acute kidney tubular necrosis 12.2
10 nystagmus 1, congenital, x-linked 11.2
11 albinism, oculocutaneous, type vi 11.1
12 acute contagious conjunctivitis 10.2 OCA2 TYR
13 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 TYR TYRP1
14 amelanotic melanoma 10.2 TYR TYRP1
15 dowling-degos disease 1 10.2 TYR TYRP1
16 hermansky-pudlak syndrome 3 10.2 TYR TYRP1
17 storage pool platelet disease 10.1
18 trichomegaly 10.1
19 hermansky-pudlak syndrome 10.1
20 dyschromatosis symmetrica hereditaria 10.1 OCA2 TYR
21 waardenburg syndrome, type 2a 10.1 TYR TYRP1
22 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0 TYR TYRP1
23 alzheimer disease 10.0
24 hepatitis 10.0
25 graves' disease 10.0
26 hepatitis a 10.0
27 ureteral obstruction 10.0
28 appendicitis 10.0
29 neuropathy 10.0
30 myopic macular degeneration 10.0
31 dural sinus malformation 10.0
32 chediak-higashi syndrome 10.0 TYR TYRP1
33 strabismus 9.9 SLC24A5 TYR TYRP1
34 vogt-koyanagi-harada disease 9.9 TYR TYRP1
35 hermansky-pudlak syndrome 1 9.8 OCA2 SLC24A5 SLC45A2 TYR
36 waardenburg's syndrome 9.7 PAX6 TYR TYRP1
37 albinism, oculocutaneous, type iii 9.6 LRMDA OCA2 SLC45A2 TYR TYRP1
38 microphthalmia 9.6 PAX6 TYR TYRP1
39 pathologic nystagmus 9.6 OCA2 PAX6 SLC45A2 TYR
40 albinism, oculocutaneous, type vii 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1
41 albinism, oculocutaneous, type iv 9.4 LRMDA OCA2 SLC24A5 SLC45A2 TYR TYRP1

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:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
3 ocular albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001107
4 hypoplasia of the fovea 60 33 hallmark (90%) Very frequent (99-80%) HP:0007750
5 albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001022
6 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
7 abnormality of visual evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0000649
8 freckling 60 33 frequent (33%) Frequent (79-30%) HP:0001480
9 abnormality of the optic nerve 60 33 frequent (33%) Frequent (79-30%) HP:0000587
10 hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000962
11 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
12 basal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002671
13 strabismus 33 HP:0000486
14 myopia 33 HP:0000545
15 reduced visual acuity 33 HP:0007663
16 hypopigmentation of hair 60 Very frequent (99-80%)
17 blue irides 33 HP:0000635
18 thickened skin 60 Occasional (29-5%)
19 white hair 33 HP:0011364
20 iris hypopigmentation 60 Very frequent (99-80%)
21 astigmatism 33 HP:0000483
22 hypopigmentation of the skin 60 Very frequent (99-80%)
23 exotropia 33 HP:0000577
24 absent skin pigmentation 33 HP:0200098

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
photophobia
strabismus
foveal hypoplasia
decreased visual acuity
more
Skin Nails Hair Skin:
milky white skin
absent skin pigmentation
no ability to tan

Skin Nails Hair Hair:
white hair

Laboratory Abnormalities:
absent tyrosinase activity

Clinical features from OMIM:

203100

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 CANX LRMDA OCA2 PAX6 SLC24A5 SLC45A2
2 growth/size/body region MP:0005378 9.91 CANX OCA2 PAX6 SLC24A5 SLC45A2 TYR
3 craniofacial MP:0005382 9.8 OCA2 PAX6 SLC24A5 TYR TYRP1
4 homeostasis/metabolism MP:0005376 9.73 OCA2 PAX6 SLC24A5 SLC45A2 TYR TYRP1
5 hearing/vestibular/ear MP:0005377 9.72 OCA2 PAX6 SLC24A5 TYR TYRP1
6 integument MP:0010771 9.63 OCA2 PAX6 SLC24A5 SLC45A2 TYR TYRP1
7 pigmentation MP:0001186 9.43 OCA2 PAX6 SLC24A5 SLC45A2 TYR TYRP1
8 vision/eye MP:0005391 9.1 OCA2 PAX6 SLC24A5 SLC45A2 TYR TYRP1

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitisinone Approved, Investigational Phase 1, Phase 2 104206-65-7 115355

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
2 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search 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 30
2 Tyrosinase-Negative Oculocutaneous Albinism 30

Anatomical Context for Albinism, Oculocutaneous, Type Ia

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

42
Skin, Eye, Retina, Testes

Publications for Albinism, Oculocutaneous, Type Ia

Articles related to Albinism, Oculocutaneous, Type Ia:

(show all 22)
# Title Authors Year
1
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. ( 30472657 )
2018
2
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1. ( 30868138 )
2018
3
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1. ( 28112372 )
2017
4
Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity. ( 27775880 )
2016
5
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). ( 25216246 )
2014
6
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. ( 24721949 )
2014
7
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. ( 22088535 )
2011
8
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. ( 20861851 )
2011
9
[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. ( 22097729 )
2011
10
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. ( 20447099 )
2010
11
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ( 19006216 )
2008
12
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ( 17516931 )
2007
13
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. ( 16417222 )
2006
14
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. ( 15937636 )
2005
15
A case of familial trichomegaly in association with oculocutaneous albinism type 1. ( 14752500 )
2004
16
Coinheritance of two rare genodermatoses (Papillon-LefA"vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. ( 15606524 )
2004
17
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. ( 15635296 )
2004
18
Oculocutaneous albinism type 1: the last 100 years. ( 12753405 )
2003
19
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). ( 11858948 )
2002
20
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. ( 11284711 )
2001
21
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. ( 11041207 )
2000
22
Oculocutaneous Albinism Type 1 ( 20301345 )
1993

Variations for Albinism, Oculocutaneous, Type Ia

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

76 (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

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

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 TYR NM_000372.4(TYR): c.902C> T (p.Pro301Leu) single nucleotide variant Likely pathogenic rs796051880 GRCh38 Chromosome 11, 89191284: 89191284
2 TYR NM_000372.4(TYR): c.902C> T (p.Pro301Leu) single nucleotide variant Likely pathogenic rs796051880 GRCh37 Chromosome 11, 88924452: 88924452
3 TYR NM_000372.4(TYR): c.446A> G (p.Tyr149Cys) single nucleotide variant Likely pathogenic rs797046082 GRCh37 Chromosome 11, 88911567: 88911567
4 TYR NM_000372.4(TYR): c.446A> G (p.Tyr149Cys) single nucleotide variant Likely pathogenic rs797046082 GRCh38 Chromosome 11, 89178399: 89178399
5 TYR NM_000372.4(TYR): c.658C> T (p.Gln220Ter) single nucleotide variant Pathogenic rs797046083 GRCh37 Chromosome 11, 88911779: 88911779
6 TYR NM_000372.4(TYR): c.658C> T (p.Gln220Ter) single nucleotide variant Pathogenic rs797046083 GRCh38 Chromosome 11, 89178611: 89178611
7 TYR NM_000372.4(TYR): c.661G> A (p.Glu221Lys) single nucleotide variant Pathogenic rs758115945 GRCh37 Chromosome 11, 88911782: 88911782
8 TYR NM_000372.4(TYR): c.661G> A (p.Glu221Lys) single nucleotide variant Pathogenic rs758115945 GRCh38 Chromosome 11, 89178614: 89178614
9 TYR NM_000372.4(TYR): c.982G> A (p.Glu328Lys) single nucleotide variant Pathogenic rs61754380 GRCh37 Chromosome 11, 88924532: 88924532
10 TYR NM_000372.4(TYR): c.982G> A (p.Glu328Lys) single nucleotide variant Pathogenic rs61754380 GRCh38 Chromosome 11, 89191364: 89191364
11 TYR NM_000372.4(TYR): c.1064C> T (p.Ala355Val) single nucleotide variant Pathogenic rs151206295 GRCh37 Chromosome 11, 88961018: 88961018
12 TYR NM_000372.4(TYR): c.1064C> T (p.Ala355Val) single nucleotide variant Pathogenic rs151206295 GRCh38 Chromosome 11, 89227850: 89227850
13 TYR NM_000372.4(TYR): c.1234C> G (p.Pro412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797046081 GRCh38 Chromosome 11, 89284822: 89284822
14 TYR NM_000372.4(TYR): c.1234C> G (p.Pro412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs797046081 GRCh37 Chromosome 11, 89017990: 89017990
15 TYR NM_000372.4(TYR): c.580delA (p.Ile194Serfs) deletion Likely pathogenic rs797046132 GRCh37 Chromosome 11, 88911701: 88911701
16 TYR NM_000372.4(TYR): c.580delA (p.Ile194Serfs) deletion Likely pathogenic rs797046132 GRCh38 Chromosome 11, 89178533: 89178533
17 TYR NM_000372.4(TYR): c.929dupC (p.Arg311Lysfs) duplication Pathogenic rs281865527 GRCh37 Chromosome 11, 88924479: 88924479
18 TYR NM_000372.4(TYR): c.929dupC (p.Arg311Lysfs) duplication Pathogenic rs281865527 GRCh38 Chromosome 11, 89191311: 89191311
19 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
20 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh38 Chromosome 11, 89178195: 89178195
21 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
22 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic rs104894314 GRCh38 Chromosome 11, 89191205: 89191205
23 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
24 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh38 Chromosome 11, 89227904: 89227904
25 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
26 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh38 Chromosome 11, 89227933: 89227933
27 TYR NM_000372.4(TYR): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61753185 GRCh37 Chromosome 11, 88911351: 88911351
28 TYR NM_000372.4(TYR): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61753185 GRCh38 Chromosome 11, 89178183: 89178183
29 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
30 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894313 GRCh38 Chromosome 11, 89284805: 89284805
31 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh37 Chromosome 11, 88911696: 88911696
32 TYR NM_000372.4(TYR): c.575C> A (p.Ser192Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association rs1042602 GRCh38 Chromosome 11, 89178528: 89178528
33 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh37 Chromosome 11, 89017961: 89017961
34 TYR NM_000372.4(TYR): c.1205G> A (p.Arg402Gln) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1126809 GRCh38 Chromosome 11, 89284793: 89284793
35 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
36 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh38 Chromosome 11, 89178218: 89178218
37 TYR NM_000372.4(TYR): c.-199C> A single nucleotide variant Benign rs1799989 GRCh37 Chromosome 11, 88910923: 88910923
38 TYR NM_000372.4(TYR): c.-199C> A single nucleotide variant Benign rs1799989 GRCh38 Chromosome 11, 89177755: 89177755
39 TYR NM_000372.4(TYR): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs61754360 GRCh37 Chromosome 11, 88911654: 88911654
40 TYR NM_000372.4(TYR): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs61754360 GRCh38 Chromosome 11, 89178486: 89178486
41 TYR NM_000372.4(TYR): c.1146C> A (p.Asn382Lys) single nucleotide variant Pathogenic rs104894315 GRCh37 Chromosome 11, 88961100: 88961100
42 TYR NM_000372.4(TYR): c.1146C> A (p.Asn382Lys) single nucleotide variant Pathogenic rs104894315 GRCh38 Chromosome 11, 89227932: 89227932
43 TYR NM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs) deletion Pathogenic rs61754368 GRCh37 Chromosome 11, 88911853: 88911854
44 TYR NM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs) deletion Pathogenic rs61754368 GRCh38 Chromosome 11, 89178685: 89178686
45 TYR NM_000372.4(TYR): c.286dupA (p.Met96fs) duplication Pathogenic rs61753190 GRCh37 Chromosome 11, 88911407: 88911407
46 TYR NM_000372.4(TYR): c.286dupA (p.Met96fs) duplication Pathogenic rs61753190 GRCh38 Chromosome 11, 89178239: 89178239
47 TYR NM_000372.4(TYR): c.125A> G (p.Asp42Gly) single nucleotide variant Pathogenic rs28940878 GRCh37 Chromosome 11, 88911246: 88911246
48 TYR NM_000372.4(TYR): c.125A> G (p.Asp42Gly) single nucleotide variant Pathogenic rs28940878 GRCh38 Chromosome 11, 89178078: 89178078
49 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh37 Chromosome 11, 88911285: 88911285
50 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh38 Chromosome 11, 89178117: 89178117

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
10.84 TYR TYRP1
2 9.62 OCA2 SLC45A2 TYR TYRP1

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 integral component of membrane GO:0016021 9.76 CANX LRBA OCA2 PAX6 SLC24A5 SLC45A2
2 melanosome GO:0042470 9.26 CANX SLC24A5 TYR TYRP1
3 melanosome membrane GO:0033162 8.92 OCA2 SLC45A2 TYR TYRP1

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 9.54 PAX6 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

Sources for Albinism, Oculocutaneous, Type Ia

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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