OCA1A
MCID: ALB009
MIFTS: 57

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 56 13 39
Oculocutaneous Albinism Type 1 74 24 52 58 29 6 71
Oca1a 56 12 52 58 73
Oca1 56 24 52 58
Oculocutaneous Albinism, Tyrosinase-Negative 56 12 54
Tyrosinase-Negative Oculocutaneous Albinism 58 29 6
Atn 56 52 73
Oculocutaneous Albinism Type Ia 12 15
Oculocutaneous Albinism Type 1a 52 58
Albinism I 56 73
Oculocutaneous Albinism, Tyrosinase-Negative; Atn 56
Oculocutaneous Albinism, Tyrosinase Negative 52
Oculocutaneous Albinism Tyrosinase Negative 73
Oculocutaneous Albinism, Type I; Oca1 56
Albinism, Oculocutaneous, Type I 39
Oculocutaneous Albinism, Type I 56
Albinism, Oculocutaneous, 1a 73
Albinism Oculocutaneous Ia 73
Albinism 1 52
Oca-1a 73
Oca-Ia 73

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:

56
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 : 56 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 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 Tyrosine metabolism and Melanin biosynthesis. The drugs Dopamine and Levodopa have 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 : 52 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 : 73 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 : 74 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 top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 albinism, oculocutaneous, type ii 31.2 TYRP1 TYR SLC45A2 SLC24A5 OCA2
2 amelanotic melanoma 30.3 TYRP1 TYR
3 melanoma 29.6 TYRP1 TYR SLC45A2 OCA2
4 albinism, oculocutaneous, type v 29.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
5 congenital nystagmus 29.3 TYR OCA2 GPR143
6 albinism, oculocutaneous, type ib 29.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
7 chediak-higashi syndrome 29.3 TYRP1 TYR
8 strabismus 29.2 TYRP1 TYR SLC24A5 GPR143
9 piebald trait 29.1 TYRP1 TYR SLC45A2 OCA2
10 oculocutaneous albinism 28.5 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
11 albinism 28.4 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
12 pathologic nystagmus 28.4 TYRP1 TYR SLC45A2 OCA2 LRMDA GPR143
13 hermansky-pudlak syndrome 28.1 TYRP1 TYR SLC45A2 OCA2 KXD1 BLOC1S3
14 ocular albinism 27.9 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
15 albinism, oculocutaneous, type iv 27.3 TYRP1 TYR SLC45A2 SLC24A5 OCA2 LRMDA
16 minimal pigment oculocutaneous albinism type 1 12.5
17 acute kidney tubular necrosis 12.3
18 nystagmus 1, congenital, x-linked 11.3
19 albinism, oculocutaneous, type vi 11.2
20 acute kidney failure 10.5
21 inherited metabolic disorder 10.3
22 47,xyy 10.3
23 hypopigmentation of the skin 10.3
24 kidney disease 10.3
25 mechanical strabismus 10.2
26 myopia 10.2
27 neuropathy 10.2
28 myopic macular degeneration 10.2
29 dilution, pigmentary 10.2
30 storage pool platelet disease 10.2
31 trichomegaly 10.2
32 glaucoma 3, primary congenital, a 10.2
33 papillon-lefevre syndrome 10.2
34 abnormal hair, joint laxity, and developmental delay 10.2
35 hermansky-pudlak syndrome 3 10.2
36 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
37 primary congenital glaucoma 10.2
38 skin carcinoma 10.2
39 skin melanoma 10.2
40 hypomelanotic disorder 10.2
41 hermansky-pudlak syndrome 1 10.1
42 yemenite deaf-blind hypopigmentation syndrome 10.1
43 hermansky-pudlak syndrome 4 10.1
44 autosomal recessive disease 10.1
45 ochronosis 10.1 TYRP1 TYR
46 dowling-degos disease 1 10.1 TYRP1 TYR
47 alzheimer disease 10.0
48 retinal detachment 10.0
49 renal fibrosis 10.0
50 cardiac arrest 10.0

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 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 ocular albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001107
4 hypoplasia of the fovea 58 31 hallmark (90%) Very frequent (99-80%) HP:0007750
5 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
8 freckling 58 31 frequent (33%) Frequent (79-30%) HP:0001480
9 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
10 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
11 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
12 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
13 strabismus 31 HP:0000486
14 thickened skin 58 Occasional (29-5%)
15 myopia 31 HP:0000545
16 reduced visual acuity 31 HP:0007663
17 hypopigmentation of hair 58 Very frequent (99-80%)
18 blue irides 31 HP:0000635
19 hypopigmentation of the skin 58 Very frequent (99-80%)
20 white hair 31 HP:0011364
21 iris hypopigmentation 58 Very frequent (99-80%)
22 astigmatism 31 HP:0000483
23 exotropia 31 HP:0000577
24 absent skin pigmentation 31 HP:0200098

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

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

45
# 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

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 2 59-92-7 6047
3
Carbidopa Approved Phase 2 28860-95-9 34359
4 Sympathomimetics Phase 2
5 Neurotransmitter Agents Phase 2
6 Dopamine Agents Phase 2
7 Antiparkinson Agents Phase 2
8 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
9 Carbidopa, levodopa drug combination Phase 2
10 Autonomic Agents Phase 2
11 Protective Agents Phase 2
12
Lutein Approved, Investigational, Nutraceutical 127-40-2 6433159

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interventional Study of Levodopa Replacement on Retinal Function in Oculocutaneous Albinism Terminated NCT01663935 Phase 2 Levodopa/carbidopa
2 Visual Function and Ocular Pigmentation in Albinism Completed NCT00001153
3 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263

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 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
Skin, Eye, Retina, Kidney, Testes, Adrenal Gland

Publications for Albinism, Oculocutaneous, Type Ia

Articles related to Albinism, Oculocutaneous, Type Ia:

(show top 50) (show all 134)
# Title Authors PMID Year
1
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 24 56 6
23504663 2013
2
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. 54 56 6
1832718 1991
3
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. 56 6
8477259 1993
4
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. 56 6
2511845 1989
5
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. 56 6
666627 1978
6
Oculocutaneous albinism spectrum. 24 6
19533789 2009
7
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 24 56
19060277 2009
8
Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. 24 56
12506050 2003
9
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. 61 6
19208379 2009
10
Oculocutaneous Albinism Type 1 61 6
20301345 2000
11
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 56
23364476 2013
12
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
13
A new hypothesis of OCA1B. 6
18925668 2008
14
Two newly identified genetic determinants of pigmentation in Europeans. 6
18488028 2008
15
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 6
18488027 2008
16
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 6
18326704 2008
17
Genetic determinants of hair, eye and skin pigmentation in Europeans. 6
17952075 2007
18
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. 56
15059699 2004
19
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 56
13680365 2003
20
Optical coherence tomography in the diagnosis of foveal hypoplasia. 56
12427081 2002
21
Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. 56
11860983 2002
22
Modifier genes in mice and humans. 56
11256068 2001
23
A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. 6
10766867 2000
24
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 6
9158138 1997
25
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 6
7704033 1995
26
Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. 56
7937580 1994
27
Ophthalmic features of minimal pigment oculocutaneous albinism. 56
8190479 1994
28
Molecular genetics of oculocutaneous albinism. 6
7849740 1994
29
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 6
8434585 1993
30
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. 56
1509264 1992
31
Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. 56
1495987 1992
32
Prevalence of congenital anomaly syndromes in a Spanish gypsy population. 56
1640427 1992
33
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 6
1642278 1992
34
Variable expression of vision in sibs with albinism. 56
1951438 1991
35
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 6
1905879 1991
36
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 6
1943686 1991
37
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 6
1899321 1991
38
Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant. 56
2119500 1990
39
Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA. 6
2113511 1990
40
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 56
1970634 1990
41
Molecular basis of mouse Himalayan mutation. 56
2567165 1989
42
RFLP for TaqI at the human tyrosinase locus. 6
2903492 1988
43
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. 56
3146546 1988
44
Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression. 56
3134020 1988
45
Prenatal diagnosis in albinism. 56
2884422 1987
46
Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20). 56
3109790 1987
47
Chromosomal mapping of beta-globin and albino loci in the domestic cat. A conserved mammalian chromosome group. 56
3559163 1986
48
Abnormal visual pathways in normally pigmented cats that are heterozygous for albinism. 56
3929383 1985
49
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. 56
3918447 1985
50
Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. 56
6499256 1984

Variations for Albinism, Oculocutaneous, Type Ia

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

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TYR NM_000372.5(TYR):c.658C>T (p.Gln220Ter)SNV Pathogenic 212523 rs797046083 11:88911779-88911779 11:89178611-89178611
2 TYR NM_000372.5(TYR):c.661G>A (p.Glu221Lys)SNV Pathogenic 212524 rs758115945 11:88911782-88911782 11:89178614-89178614
3 TYR NM_000372.5(TYR):c.982G>A (p.Glu328Lys)SNV Pathogenic 212525 rs61754380 11:88924532-88924532 11:89191364-89191364
4 TYR NM_000372.5(TYR):c.929dup (p.Arg311fs)duplication Pathogenic 3771 rs281865527 11:88924475-88924476 11:89191307-89191308
5 TYR NM_000372.5(TYR):c.242C>T (p.Pro81Leu)SNV Pathogenic 3772 rs28940876 11:88911363-88911363 11:89178195-89178195
6 TYR NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)SNV Pathogenic 3774 rs61754388 11:88961072-88961072 11:89227904-89227904
7 TYR NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)SNV Pathogenic 3775 rs121908011 11:88961101-88961101 11:89227933-89227933
8 TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg)SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218
9 TYR NM_000372.5(TYR):c.533G>A (p.Trp178Ter)SNV Pathogenic 3784 rs61754360 11:88911654-88911654 11:89178486-89178486
10 TYR NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)SNV Pathogenic 3786 rs104894315 11:88961100-88961100 11:89227932-89227932
11 TYR NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs)short repeat Pathogenic 3787 rs61754368 11:88911850-88911851 11:89178682-89178683
12 TYR NM_000372.4(TYR):c.286dupA (p.Met96fs)duplication Pathogenic 3788 rs61753190 11:88911406-88911407 11:89178238-89178239
13 TYR NM_000372.5(TYR):c.125A>G (p.Asp42Gly)SNV Pathogenic 3789 rs28940878 11:88911246-88911246 11:89178078-89178078
14 TYR NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)SNV Pathogenic 3790 rs28940879 11:88911285-88911285 11:89178117-89178117
15 TYR NM_000372.5(TYR):c.616G>A (p.Ala206Thr)SNV Pathogenic 3791 rs28940880 11:88911737-88911737 11:89178569-89178569
16 TYR NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)SNV Pathogenic 3802 rs104894318 11:89018098-89018098 11:89284930-89284930
17 TYR NM_000372.5(TYR):c.1467dup (p.Ala490fs)duplication Pathogenic 3803 rs61754399 11:89028410-89028411 11:89295242-89295243
18 TYR NM_000372.5(TYR):c.1501dup (p.Arg501fs)duplication Pathogenic 3804 rs281865328 11:89028444-89028445 11:89295276-89295277
19 TYR NM_000372.5(TYR):c.707G>A (p.Trp236Ter)SNV Pathogenic 3805 rs61754367 11:88911828-88911828 11:89178660-89178660
20 TYR NM_000372.5(TYR):c.646T>A (p.Leu216Met)SNV Pathogenic 3806 rs61754363 11:88911767-88911767 11:89178599-89178599
21 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
22 TYR NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)SNV Pathogenic 39977 rs137854890 11:88911393-88911393 11:89178225-89178225
23 TYR NM_000372.5(TYR):c.1037-1G>ASNV Pathogenic 99526 rs61754382 11:88960990-88960990 11:89227822-89227822
24 TYR NM_000372.5(TYR):c.896G>A (p.Arg299His)SNV Pathogenic 3796 rs61754375 11:88924446-88924446 11:89191278-89191278
25 TYR NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)SNV Pathogenic 3798 rs61754387 11:88961066-88961066 11:89227898-89227898
26 TYR NM_000372.5(TYR):c.1164del (p.His389fs)deletion Pathogenic 3799 rs281865522 11:88961117-88961117 11:89227949-89227949
27 TYR NM_000372.5(TYR):c.61C>T (p.Pro21Ser)SNV Pathogenic 3793 rs61753178 11:88911182-88911182 11:89178014-89178014
28 TYR NM_000372.5(TYR):c.229C>T (p.Arg77Trp)SNV Pathogenic 99553 rs61753184 11:88911350-88911350 11:89178182-89178182
29 TYR NM_000372.5(TYR):c.346C>T (p.Arg116Ter)SNV Pathogenic 99565 rs61753256 11:88911467-88911467 11:89178299-89178299
30 TYR NM_000372.5(TYR):c.572del (p.Gly191fs)deletion Pathogenic 99570 rs61754361 11:88911689-88911689 11:89178521-89178521
31 TYR NM_000372.5(TYR):c.613C>A (p.Pro205Thr)SNV Pathogenic 99572 rs61754362 11:88911734-88911734 11:89178566-89178566
32 TYR NM_000372.5(TYR):c.820-3C>GSNV Pathogenic 99582 rs61754371 11:88924367-88924367 11:89191199-89191199
33 TYR NM_000372.5(TYR):c.832C>T (p.Arg278Ter)SNV Pathogenic 99583 rs62645904 11:88924382-88924382 11:89191214-89191214
34 TYR NM_000372.5(TYR):c.895C>A (p.Arg299Ser)SNV Pathogenic 99587 rs61754374 11:88924445-88924445 11:89191277-89191277
35 TYR NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)SNV Pathogenic 99542 rs62645917 11:89017960-89017960 11:89284792-89284792
36 TYR NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)SNV Pathogenic 437175 rs765329261 11:88911874-88911874 11:89178706-89178706
37 TYR NM_000372.5(TYR):c.880G>A (p.Glu294Lys)SNV Pathogenic 437177 rs757754120 11:88924430-88924430 11:89191262-89191262
38 TYR NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)SNV Pathogenic 437179 rs1013801316 11:88924586-88924586 11:89191418-89191418
39 TYR NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)indel Pathogenic 585290 rs1565386582 11:88911508-88911510 11:89178340-89178342
40 TYR NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)SNV Pathogenic 585280 rs1031268531 11:88924530-88924530 11:89191362-89191362
41 TYR NM_000372.5(TYR):c.1267del (p.Glu423fs)deletion Pathogenic 585282 rs1565423674 11:89018021-89018021 11:89284853-89284853
42 TYR NM_000372.5(TYR):c.714G>A (p.Trp238Ter)SNV Pathogenic 620587 rs1565386964 11:88911835-88911835 11:89178667-89178667
43 TYR NM_000372.5(TYR):c.1110G>A (p.Met370Ile)SNV Pathogenic 625851 rs1207709557 11:88961064-88961064 11:89227896-89227896
44 TYR NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)SNV Pathogenic 627596 11:89018031-89018031 11:89284863-89284863
45 TYR NC_000011.9:g.(88911941_88911969)_(88961139_89017940)deldeletion Pathogenic 627598 11:88911941-89017940 11:89178773-89284772
46 TYR NM_000372.5(TYR):c.1456del (p.Ala486fs)deletion Pathogenic 637017 11:89028397-89028397 11:89295229-89295229
47 TYR NM_000372.5(TYR):c.650G>A (p.Arg217Gln)SNV Pathogenic/Likely pathogenic 99575 rs61754365 11:88911771-88911771 11:89178603-89178603
48 TYR NM_000372.5(TYR):c.140G>A (p.Gly47Asp)SNV Pathogenic/Likely pathogenic 3794 rs61753180 11:88911261-88911261 11:89178093-89178093
49 TYR NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)SNV Pathogenic/Likely pathogenic 3801 rs104894317 11:89018092-89018092 11:89284924-89284924
50 TYR NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)SNV Pathogenic/Likely pathogenic 99541 rs62645916 11:89017955-89017955 11:89284787-89284787

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

73 (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
10.84 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 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
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48 NCI
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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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