OCA1A
MCID: ALB009
MIFTS: 42

Albinism, Oculocutaneous, Type Ia (OCA1A) malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ia

Aliases & Descriptions for Albinism, Oculocutaneous, Type Ia:

Name: Albinism, Oculocutaneous, Type Ia 54 13
Oculocutaneous Albinism Type 1 23 50 24 56 29 69
Oca1a 50 24 56 66
Oca1 23 50 24 56
Oculocutaneous Albinism Type 1a 50 24 56
Oculocutaneous Albinism Tyrosinase Negative 66 29
Atn 50 66
Oculocutaneous Albinism, Tyrosinase Negative 50
Oculocutaneous Albinism, Tyrosinase-Negative 52
Tyrosinase-Negative Oculocutaneous Albinism 56
Albinism, Oculocutaneous, 1a 66
Albinism Oculocutaneous Ia 66
Albinism, Oculocutaneous 42
Albinism 1 50
Albinism I 66
Oca 1a 24
Oca-1a 66
Oca-Ia 66
Oca 1 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
albinism, oculocutaneous, type ia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 203100
ICD10 via Orphanet 34 E70.3
MedGen 40 C0268494
MeSH 42 D016115

Summaries for Albinism, Oculocutaneous, Type Ia

OMIM : 54 Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent... (203100) more...

MalaCards based summary : Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to minimal pigment oculocutaneous albinism type 1 and acute kidney tubular necrosis, and has symptoms including photophobia, nystagmus and visual impairment. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways is 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 hearing/vestibular/ear and pigmentation

NIH Rare Diseases : 50 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. last updated: 11/7/2011

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK1166

Related Diseases for Albinism, Oculocutaneous, Type Ia

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

Symptoms by clinical synopsis from OMIM:

203100

Clinical features from OMIM:

203100

Human phenotypes related to Albinism, Oculocutaneous, Type Ia:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Very frequent (99-80%) HP:0000613
2 nystagmus 56 32 Very frequent (99-80%) HP:0000639
3 visual impairment 56 32 Frequent (79-30%) HP:0000505
4 abnormality of visual evoked potentials 56 32 Frequent (79-30%) HP:0000649
5 hyperkeratosis 56 32 Occasional (29-5%) HP:0000962
6 ocular albinism 56 32 Very frequent (99-80%) HP:0001107
7 squamous cell carcinoma of the skin 56 32 Occasional (29-5%) HP:0006739
8 freckling 56 32 Frequent (79-30%) HP:0001480
9 hypoplasia of the fovea 56 32 Very frequent (99-80%) HP:0007750
10 abnormality of the optic nerve 56 32 Frequent (79-30%) HP:0000587
11 basal cell carcinoma 56 32 Occasional (29-5%) HP:0002671
12 albinism 56 32 Very frequent (99-80%) HP:0001022
13 strabismus 32 HP:0000486
14 reduced visual acuity 32 HP:0007663
15 hypopigmentation of hair 56 Very frequent (99-80%)
16 myopia 32 HP:0000545
17 blue irides 32 HP:0000635
18 thickened skin 56 Occasional (29-5%)
19 white hair 32 HP:0011364
20 iris hypopigmentation 56 Very frequent (99-80%)
21 astigmatism 32 HP:0000483
22 hypopigmentation of the skin 56 Very frequent (99-80%)
23 absent skin pigmentation 32 HP:0200098

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 OCA2 TYR
2 pigmentation MP:0001186 8.62 OCA2 TYR

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ia

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2
2 Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Recruiting NCT00808106

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ia

Cochrane evidence based reviews: albinism, oculocutaneous

Genetic Tests for Albinism, Oculocutaneous, Type Ia

Genetic tests related to Albinism, Oculocutaneous, Type Ia:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 1 29 24 TYR
2 Tyrosinase-Negative Oculocutaneous Albinism 29
3 Oculocutaneous Albinism Type 1a 24

Anatomical Context for Albinism, Oculocutaneous, Type Ia

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

39
Skin, Eye, Retina

Publications for Albinism, Oculocutaneous, Type Ia

Variations for Albinism, Oculocutaneous, Type Ia

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

66 (show top 50) (show all 101)
id 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
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
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 all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1 OCA2 NM_000275.2(OCA2): c.1327G> A (p.Val443Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121918166 GRCh37 Chromosome 15, 28230247: 28230247
2 TYR NM_000372.4(TYR): c.929dupC (p.Arg311Lysfs) duplication Pathogenic rs281865527 GRCh37 Chromosome 11, 88924479: 88924479
3 TYR NM_000372.4(TYR): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs28940876 GRCh37 Chromosome 11, 88911363: 88911363
4 TYR NM_000372.4(TYR): c.823G> T (p.Val275Phe) single nucleotide variant Pathogenic rs104894314 GRCh37 Chromosome 11, 88924373: 88924373
5 TYR NM_000372.4(TYR): c.1118C> A (p.Thr373Lys) single nucleotide variant Pathogenic rs61754388 GRCh37 Chromosome 11, 88961072: 88961072
6 TYR NM_000372.4(TYR): c.1147G> A (p.Asp383Asn) single nucleotide variant Pathogenic rs121908011 GRCh37 Chromosome 11, 88961101: 88961101
7 TYR NM_000372.4(TYR): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs61753185 GRCh37 Chromosome 11, 88911351: 88911351
8 TYR NM_000372.4(TYR): c.1217C> T (p.Pro406Leu) single nucleotide variant Pathogenic rs104894313 GRCh37 Chromosome 11, 89017973: 89017973
9 TYR NM_000372.4(TYR): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic rs28940877 GRCh37 Chromosome 11, 88911386: 88911386
10 TYR NM_000372.4(TYR): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs61754360 GRCh37 Chromosome 11, 88911654: 88911654
11 TYR NM_000372.4(TYR): c.1146C> A (p.Asn382Lys) single nucleotide variant Pathogenic rs104894315 GRCh37 Chromosome 11, 88961100: 88961100
12 TYR NM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs) deletion Pathogenic rs61754368 GRCh37 Chromosome 11, 88911853: 88911854
13 TYR NM_000372.4(TYR): c.286dupA (p.Met96fs) duplication Pathogenic rs61753190 GRCh37 Chromosome 11, 88911407: 88911407
14 TYR NM_000372.4(TYR): c.125A> G (p.Asp42Gly) single nucleotide variant Pathogenic rs28940878 GRCh37 Chromosome 11, 88911246: 88911246
15 TYR NM_000372.4(TYR): c.164G> A (p.Cys55Tyr) single nucleotide variant Pathogenic rs28940879 GRCh37 Chromosome 11, 88911285: 88911285
16 TYR NM_000372.4(TYR): c.616G> A (p.Ala206Thr) single nucleotide variant Pathogenic rs28940880 GRCh37 Chromosome 11, 88911737: 88911737
17 TYR NM_000372.4(TYR): c.1255G> A (p.Gly419Arg) single nucleotide variant Pathogenic rs61754392 GRCh37 Chromosome 11, 89018011: 89018011
18 TYR NM_000372.4(TYR): c.61C> T (p.Pro21Ser) single nucleotide variant Pathogenic rs61753178 GRCh37 Chromosome 11, 88911182: 88911182
19 TYR NM_000372.4(TYR): c.140G> A (p.Gly47Asp) single nucleotide variant Pathogenic rs61753180 GRCh37 Chromosome 11, 88911261: 88911261
20 TYR NM_000372.4(TYR): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic/Likely pathogenic rs63159160 GRCh37 Chromosome 11, 88911770: 88911770
21 TYR NM_000372.4(TYR): c.896G> A (p.Arg299His) single nucleotide variant Pathogenic rs61754375 GRCh37 Chromosome 11, 88924446: 88924446
22 TYR NM_000372.4(TYR): c.1112A> C (p.Asn371Thr) single nucleotide variant Pathogenic rs61754387 GRCh37 Chromosome 11, 88961066: 88961066
23 TYR NM_000372.4(TYR): c.1164delT (p.His389Thrfs) deletion Pathogenic rs281865522 GRCh37 Chromosome 11, 88961118: 88961118
24 TYR NM_000372.4(TYR): c.1209G> T (p.Arg403Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894316 GRCh37 Chromosome 11, 89017965: 89017965
25 TYR NM_000372.4(TYR): c.1336G> A (p.Gly446Ser) single nucleotide variant Pathogenic rs104894317 GRCh37 Chromosome 11, 89018092: 89018092
26 TYR NM_000372.4(TYR): c.1342G> A (p.Asp448Asn) single nucleotide variant Pathogenic rs104894318 GRCh37 Chromosome 11, 89018098: 89018098
27 TYR NM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs) duplication Pathogenic rs61754399 GRCh37 Chromosome 11, 89028411: 89028411
28 TYR NM_000372.4(TYR): c.1501dupC (p.Arg501Profs) duplication Pathogenic rs281865328 GRCh37 Chromosome 11, 89028445: 89028445
29 TYR NM_000372.4(TYR): c.707G> A (p.Trp236Ter) single nucleotide variant Pathogenic rs61754367 GRCh37 Chromosome 11, 88911828: 88911828
30 TYR NM_000372.4(TYR): c.646T> A (p.Leu216Met) single nucleotide variant Pathogenic rs61754363 GRCh37 Chromosome 11, 88911767: 88911767
31 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
32 TYR NM_000372.4(TYR): c.272G> A (p.Cys91Tyr) single nucleotide variant Pathogenic rs137854890 GRCh37 Chromosome 11, 88911393: 88911393
33 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
34 TYR NM_000372.4(TYR): c.1204C> T (p.Arg402Ter) single nucleotide variant Pathogenic rs62645917 GRCh37 Chromosome 11, 89017960: 89017960
35 TYR NM_000372.4(TYR): c.229C> T (p.Arg77Trp) single nucleotide variant Pathogenic rs61753184 GRCh37 Chromosome 11, 88911350: 88911350
36 TYR NM_000372.4(TYR): c.572delG (p.Gly191Aspfs) deletion Pathogenic rs61754361 GRCh37 Chromosome 11, 88911693: 88911693
37 TYR NM_000372.4(TYR): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs61754365 GRCh37 Chromosome 11, 88911771: 88911771
38 TYR NM_000372.4(TYR): c.820-3C> G single nucleotide variant Pathogenic rs61754371 GRCh37 Chromosome 11, 88924367: 88924367
39 TYR NM_000372.4(TYR): c.551C> G (p.Ser184Ter) single nucleotide variant Likely pathogenic rs367543066 GRCh38 Chromosome 11, 89178504: 89178504
40 TYR NM_000372.4(TYR): c.902C> T (p.Pro301Leu) single nucleotide variant Likely pathogenic rs796051880 GRCh38 Chromosome 11, 89191284: 89191284
41 TYR NM_000372.4(TYR): c.446A> G (p.Tyr149Cys) single nucleotide variant Likely pathogenic rs797046082 GRCh38 Chromosome 11, 89178399: 89178399
42 TYR NM_000372.4(TYR): c.658C> T (p.Gln220Ter) single nucleotide variant Pathogenic rs797046083 GRCh38 Chromosome 11, 89178611: 89178611
43 TYR NM_000372.4(TYR): c.661G> A (p.Glu221Lys) single nucleotide variant Pathogenic rs758115945 GRCh37 Chromosome 11, 88911782: 88911782
44 TYR NM_000372.4(TYR): c.982G> A (p.Glu328Lys) single nucleotide variant Pathogenic rs61754380 GRCh37 Chromosome 11, 88924532: 88924532
45 TYR NM_000372.4(TYR): c.1064C> T (p.Ala355Val) single nucleotide variant Pathogenic rs151206295 GRCh37 Chromosome 11, 88961018: 88961018
46 TYR NM_000372.4(TYR): c.580delA (p.Ile194Serfs) deletion Likely pathogenic rs797046132 GRCh37 Chromosome 11, 88911701: 88911701

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:

id Super pathways Score Top Affiliating Genes
1 9.32 OCA2 TYR

GO Terms for Albinism, Oculocutaneous, Type Ia

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

id Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 OCA2 TYR

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

id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.26 OCA2 TYR
2 pigmentation GO:0043473 9.16 OCA2 TYR
3 melanin biosynthetic process GO:0042438 8.96 OCA2 TYR
4 eye pigment biosynthetic process GO:0006726 8.62 OCA2 TYR

Sources for Albinism, Oculocutaneous, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....