MCID: ALB009
MIFTS: 37

Albinism, Oculocutaneous, Type Ia

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ia

MalaCards integrated aliases 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 71
Oca1 23 50 24 56
Oculocutaneous Albinism Type 1a 50 24 56
Tyrosinase-Negative Oculocutaneous Albinism 56 29
Atn 50 71
Oculocutaneous Albinism, Tyrosinase Negative 50
Oculocutaneous Albinism, Tyrosinase-Negative 52
Oculocutaneous Albinism Tyrosinase Negative 71
Albinism, Oculocutaneous, 1a 71
Albinism Oculocutaneous Ia 71
Albinism, Oculocutaneous 42
Albinism 1 50
Albinism I 71
Oca 1a 24
Oca-1a 71
Oca-Ia 71
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;

OMIM:

54
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:

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


Classifications:



Summaries for Albinism, Oculocutaneous, Type Ia

OMIM : 54
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 albinism, oculocutaneous, type iii, and has symptoms including visual impairment, nystagmus and basal cell carcinoma. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase). The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina.

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 : 71 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 via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
strabismus
decreased visual acuity
photophobia
foveal hypoplasia
more
Skin Nails & Hair- Hair:
white hair

Skin Nails & Hair- Skin:
milky white skin
absent skin pigmentation
no ability to tan

Laboratory- Abnormalities:
absent tyrosinase activity


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 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 basal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002671
4 photophobia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000613
5 hyperkeratosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000962
6 freckling 56 32 frequent (33%) Frequent (79-30%) HP:0001480
7 squamous cell carcinoma of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0006739
8 ocular albinism 56 32 hallmark (90%) Very frequent (99-80%) HP:0001107
9 albinism 56 32 hallmark (90%) Very frequent (99-80%) HP:0001022
10 abnormality of visual evoked potentials 56 32 frequent (33%) Frequent (79-30%) HP:0000649
11 hypoplasia of the fovea 56 32 hallmark (90%) Very frequent (99-80%) HP:0007750
12 abnormality of the optic nerve 56 32 frequent (33%) Frequent (79-30%) HP:0000587
13 strabismus 32 HP:0000486
14 myopia 32 HP:0000545
15 reduced visual acuity 32 HP:0007663
16 astigmatism 32 HP:0000483
17 blue irides 32 HP:0000635
18 thickened skin 56 Occasional (29-5%)
19 absent skin pigmentation 32 HP:0200098
20 white hair 32 HP:0011364
21 hypopigmentation of hair 56 Very frequent (99-80%)
22 iris hypopigmentation 56 Very frequent (99-80%)
23 hypopigmentation of the skin 56 Very frequent (99-80%)

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

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 Drugs
1 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
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, Testes

Publications for Albinism, Oculocutaneous, Type Ia

Variations for Albinism, Oculocutaneous, Type Ia

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

71 (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 top 50) (show all 60)
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/Likely 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/Likely 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.1037-1G> A single nucleotide variant Pathogenic rs61754382 GRCh37 Chromosome 11, 88960990: 88960990
34 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
35 TYR NM_000372.4(TYR): c.1100A> G (p.His367Arg) single nucleotide variant Likely pathogenic rs61754384 GRCh37 Chromosome 11, 88961054: 88961054
36 TYR NM_000372.4(TYR): c.1199G> T (p.Trp400Leu) single nucleotide variant Likely pathogenic rs62645916 GRCh37 Chromosome 11, 89017955: 89017955
37 TYR NM_000372.4(TYR): c.1204C> T (p.Arg402Ter) single nucleotide variant Pathogenic rs62645917 GRCh37 Chromosome 11, 89017960: 89017960
38 TYR NM_000372.4(TYR): c.229C> T (p.Arg77Trp) single nucleotide variant Pathogenic rs61753184 GRCh37 Chromosome 11, 88911350: 88911350
39 TYR NM_000372.4(TYR): c.346C> T (p.Arg116Ter) single nucleotide variant Pathogenic rs61753256 GRCh37 Chromosome 11, 88911467: 88911467
40 TYR NM_000372.4(TYR): c.572delG (p.Gly191Aspfs) deletion Pathogenic rs61754361 GRCh37 Chromosome 11, 88911693: 88911693
41 TYR NM_000372.4(TYR): c.613C> A (p.Pro205Thr) single nucleotide variant Pathogenic rs61754362 GRCh37 Chromosome 11, 88911734: 88911734
42 TYR NM_000372.4(TYR): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs61754365 GRCh37 Chromosome 11, 88911771: 88911771
43 TYR NM_000372.4(TYR): c.820-3C> G single nucleotide variant Pathogenic rs61754371 GRCh37 Chromosome 11, 88924367: 88924367
44 TYR NM_000372.4(TYR): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs62645904 GRCh37 Chromosome 11, 88924382: 88924382
45 TYR NM_000372.4(TYR): c.895C> A (p.Arg299Ser) single nucleotide variant Pathogenic rs61754374 GRCh37 Chromosome 11, 88924445: 88924445
46 TYR NM_000372.4(TYR): c.551C> G (p.Ser184Ter) single nucleotide variant Likely pathogenic rs367543066 GRCh38 Chromosome 11, 89178504: 89178504
47 TYR NM_000372.4(TYR): c.739T> C (p.Cys247Arg) single nucleotide variant Likely pathogenic rs367543068 GRCh38 Chromosome 11, 89178692: 89178692
48 TYR NM_000372.4(TYR): c.902C> T (p.Pro301Leu) single nucleotide variant Likely pathogenic rs796051880 GRCh38 Chromosome 11, 89191284: 89191284
49 TYR NM_000372.4(TYR): c.446A> G (p.Tyr149Cys) single nucleotide variant Likely pathogenic rs797046082 GRCh38 Chromosome 11, 89178399: 89178399
50 TYR NM_000372.4(TYR): c.658C> T (p.Gln220Ter) single nucleotide variant Pathogenic rs797046083 GRCh38 Chromosome 11, 89178611: 89178611

Expression for Albinism, Oculocutaneous, Type Ia

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Pathways for Albinism, Oculocutaneous, Type Ia

GO Terms for Albinism, Oculocutaneous, Type Ia

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