MCID: ALB009
MIFTS: 41

Albinism, Oculocutaneous, Type Ia malady

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

Aliases & Classifications for Albinism, Oculocutaneous, Type Ia

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Aliases & Descriptions for Albinism, Oculocutaneous, Type Ia:

Name: Albinism, Oculocutaneous, Type Ia 51 12
Oculocutaneous Albinism Type 1 23 47 24 53 26 67
Oca1a 47 24 53 69
Oca1 23 47 24 53
Oculocutaneous Albinism Type 1a 47 24 53
Oculocutaneous Albinism Tyrosinase Negative 69 26
Atn 47 69
Oculocutaneous Albinism, Tyrosinase Negative 47
Oculocutaneous Albinism, Tyrosinase-Negative 49
Tyrosinase-Negative Oculocutaneous Albinism 53
 
Albinism, Oculocutaneous, 1a 69
Albinism Oculocutaneous Ia 69
Albinism, Oculocutaneous 38
Albinism 1 47
Albinism I 69
Oca-Ia 69
Oca-1a 69
Oca 1a 24
Oca 1 24

Characteristics:

Orphanet epidemiological data:

53
oca1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
oculocutaneous albinism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
albinism, oculocutaneous, type ia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 203100
ICD10 via Orphanet30 E70.3
MedGen36 C0268494
MeSH38 D016115

Summaries for Albinism, Oculocutaneous, Type Ia

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OMIM:51 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 ocular albinism. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase). Affiliated tissues include skin, eye and retina, and related mouse phenotype pigmentation.

NIH Rare Diseases:47 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:69 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 for NBK1166

Related Diseases for Albinism, Oculocutaneous, Type Ia

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



Diseases related to albinism, oculocutaneous, type ia

Symptoms for Albinism, Oculocutaneous, Type Ia

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Symptoms by clinical synopsis from OMIM:

203100

Clinical features from OMIM:

203100

Human phenotypes related to Albinism, Oculocutaneous, Type Ia:

 63 53 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia63 53 hallmark (90%) Very frequent (99-80%) HP:0000613
2 nystagmus63 53 hallmark (90%) Very frequent (99-80%) HP:0000639
3 ocular albinism63 53 hallmark (90%) Very frequent (99-80%) HP:0001107
4 generalized hypopigmentation63 hallmark (90%) HP:0007513
5 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
6 optic atrophy63 typical (50%) HP:0000648
7 abnormality of visual evoked potentials63 53 typical (50%) Frequent (79-30%) HP:0000649
8 freckling63 53 typical (50%) Frequent (79-30%) HP:0001480
9 hyperkeratosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000962
10 reduced bone mineral density63 occasional (7.5%) HP:0004349
11 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
12 neoplasm of the skin63 occasional (7.5%) HP:0008069
13 astigmatism63 HP:0000483
14 strabismus63 HP:0000486
15 myopia63 HP:0000545
16 blue irides63 HP:0000635
17 albinism63 53 Very frequent (99-80%) HP:0001022
18 reduced visual acuity63 HP:0007663
19 hypoplasia of the fovea63 53 Very frequent (99-80%) HP:0007750
20 white hair63 HP:0011364
21 absent skin pigmentation63 HP:0200098
22 abnormality of the optic nerve53 Frequent (79-30%)
23 hypopigmentation of the skin53 Very frequent (99-80%)
24 thickened skin53 Occasional (29-5%)
25 basal cell carcinoma53 Occasional (29-5%)
26 hypopigmentation of hair53 Very frequent (99-80%)
27 squamous cell carcinoma of the skin53 Occasional (29-5%)
28 iris hypopigmentation53 Very frequent (99-80%)

UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:


photophobia

Drugs & Therapeutics for Albinism, Oculocutaneous, Type Ia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitisinoneapproved, investigationalPhase 1, Phase 214104206-65-7115355
Synonyms:
104206-65-7
2-(2-Nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione
2-(Alpha,alpha,alpha-trifluoro-2-nitro-p-tuluoyl)-1,3-cyclohexanedione
2-(alpha,alpha,alpha-Trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione
2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione
2-{[2-nitro-4-(trifluoromethyl)phenyl]carbonyl}cyclohexane-1,3-dione
AC1L3GZK
BIDD:PXR0129
C14H10F3NO5
CHEBI:50378
CHEMBL1337
CID115355
D05177
DB00348
 
FE-0200
LS-56815
Nitisinona
Nitisinone
Nitisinone (JAN/USAN/INN)
Nitisinone (NTBC)
Nitisinone [INN]
Nitisinone [USAN:INN]
Nitisinonum
Nitisone
Orfadin
Orfadin (TN)
SC 0735
UNII-K5BN214699
nitisinona
nitisinonum

Interventional clinical trials:

idNameStatusNCT IDPhase
1Nitisinone for Type 1B Oculocutaneous AlbinismActive, not recruitingNCT01838655Phase 1, Phase 2
2Clinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismRecruitingNCT00808106

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ia


Cochrane evidence based reviews: albinism, oculocutaneous

Genetic Tests for Albinism, Oculocutaneous, Type Ia

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Genetic tests related to Albinism, Oculocutaneous, Type Ia:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 126 24 TYR
2 Tyrosinase-Negative Oculocutaneous Albinism26
3 Oculocutaneous Albinism Type 1a24

Anatomical Context for Albinism, Oculocutaneous, Type Ia

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

35
Skin, Eye, Retina, Bone

Animal Models for Albinism, Oculocutaneous, Type Ia or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1OCA2, TYR

Publications for Albinism, Oculocutaneous, Type Ia

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Variations for Albinism, Oculocutaneous, Type Ia

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

69 (show all 101)
id Symbol AA change Variation ID SNP ID
1TYRp.His19GlnVAR_007649rs61753177
2TYRp.Pro21SerVAR_007650rs61753178
3TYRp.Asp42GlyVAR_007651rs28940878
4TYRp.Gly47AspVAR_007652rs61753180
5TYRp.Cys55TyrVAR_007654rs28940879
6TYRp.Arg77GlnVAR_007655rs61753185
7TYRp.Arg77TrpVAR_007656rs61753184
8TYRp.Trp80ArgVAR_007657rs61753188
9TYRp.Pro81LeuVAR_007658rs28940876
10TYRp.Cys89ArgVAR_007659rs28940877
11TYRp.Gly97ArgVAR_007660rs61753252
12TYRp.Phe176IleVAR_007661rs61753259
13TYRp.Ala206ThrVAR_007663rs28940880
14TYRp.Leu216MetVAR_007664rs61754363
15TYRp.Arg217GlyVAR_007665rs63159160
16TYRp.Arg217TrpVAR_007666rs63159160
17TYRp.Arg217GlnVAR_007667rs61754365
18TYRp.Gly253ArgVAR_007668rs61754369
19TYRp.Val275PheVAR_007669rs104894314
20TYRp.Cys289ArgVAR_007670
21TYRp.Arg299HisVAR_007671rs61754375
22TYRp.Arg299SerVAR_007672rs61754374
23TYRp.Ser339GlyVAR_007676rs62645906
24TYRp.Ala355ProVAR_007678rs62645908
25TYRp.Asn371ThrVAR_007679rs61754387
26TYRp.Thr373LysVAR_007680rs61754388
27TYRp.Asn382LysVAR_007682rs104894315
28TYRp.Asp383AsnVAR_007683rs121908011
29TYRp.Ser395AsnVAR_007685rs752344007
30TYRp.Arg403SerVAR_007687rs104894316
31TYRp.Pro406LeuVAR_007689rs104894313
32TYRp.Gly419ArgVAR_007690rs61754392
33TYRp.Arg422GlnVAR_007691rs61754393
34TYRp.Gly446SerVAR_007692rs104894317
35TYRp.Asp448AsnVAR_007693rs104894318
36TYRp.Leu288SerVAR_007927
37TYRp.Glu294LysVAR_007928rs757754120
38TYRp.Glu328GlnVAR_007929rs61754380
39TYRp.Gly346GluVAR_007930rs773970123
40TYRp.Ala355GluVAR_007931
41TYRp.Ser361ArgVAR_007932rs61754383
42TYRp.His367TyrVAR_007933rs776054795
43TYRp.Met370ThrVAR_007934rs61754385
44TYRp.Asn371TyrVAR_007935rs61754386
45TYRp.Val393PheVAR_007936
46TYRp.Pro431LeuVAR_007938rs281865325
47TYRp.Cys289GlyVAR_009237
48TYRp.Trp400LeuVAR_009238rs62645916
49TYRp.Cys36TyrVAR_021683rs61753179
50TYRp.Ser44GlyVAR_021684
51TYRp.Ser44ArgVAR_021685rs755700581
52TYRp.Gly47ValVAR_021686
53TYRp.Gln68HisVAR_021687
54TYRp.Ser79LeuVAR_021688rs544053015
55TYRp.Gly109ArgVAR_021689rs61753253
56TYRp.Thr155SerVAR_021690
57TYRp.Val177PheVAR_021691rs138487695
58TYRp.Met179LeuVAR_021692
59TYRp.His180AsnVAR_021693rs779878377
60TYRp.Asp199AsnVAR_021694
61TYRp.Ala201SerVAR_021695
62TYRp.Pro205ThrVAR_021696rs61754362
63TYRp.Arg217SerVAR_021697
64TYRp.Trp236LeuVAR_021699
65TYRp.Trp236SerVAR_021700rs61754367
66TYRp.Arg239TrpVAR_021701rs774670098
67TYRp.Asp240ValVAR_021702
68TYRp.Lys243ThrVAR_021703
69TYRp.His256TyrVAR_021704rs61754370
70TYRp.Trp272CysVAR_021705rs62645902
71TYRp.Glu294GlyVAR_021706
72TYRp.Val318GluVAR_021707
73TYRp.Ser329ProVAR_021708
74TYRp.Met332ThrVAR_021709rs372534292
75TYRp.Glu345GlyVAR_021710
76TYRp.Gln378LysVAR_021711
77TYRp.Ser395ArgVAR_021712
78TYRp.Glu398AlaVAR_021713
79TYRp.Glu398ValVAR_021714
80TYRp.Arg402LeuVAR_021715
81TYRp.His404AsnVAR_021716
82TYRp.Arg405LeuVAR_021717
83TYRp.Gln408HisVAR_021718
84TYRp.Glu409AspVAR_021719
85TYRp.Ala416SerVAR_021720
86TYRp.Pro417HisVAR_021721
87TYRp.Ser424PheVAR_021722rs758747581
88TYRp.Met426LysVAR_021723
89TYRp.Val427GlyVAR_021724
90TYRp.Arg434IleVAR_021725
91TYRp.Asn435AspVAR_021726
92TYRp.Phe439ValVAR_021727rs281865327
93TYRp.Asp444GlyVAR_021728
94TYRp.Ile198ThrVAR_071756rs750553908
95TYRp.Ser50LeuVAR_072592
96TYRp.Cys91TyrVAR_072593rs137854890
97TYRp.Arg298TrpVAR_072594rs200854796
98TYRp.Ala355ValVAR_072595rs151206295
99TYRp.Asn364HisVAR_072596
100TYRp.Pro384AlaVAR_072597
101TYRp.Ala490AspVAR_072598

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

5 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1TYRNM_000372.4(TYR): c.551C> G (p.Ser184Ter)SNVLikely pathogenicrs367543066GRCh38Chr 11, 89178504: 89178504
2TYRNM_000372.4(TYR): c.1064C> T (p.Ala355Val)SNVPathogenicrs151206295GRCh37Chr 11, 88961018: 88961018
3TYRNM_000372.4(TYR): c.1234C> G (p.Pro412Ala)SNVLikely pathogenicrs797046081GRCh37Chr 11, 89017990: 89017990
4TYRNM_000372.4(TYR): c.446A> G (p.Tyr149Cys)SNVLikely pathogenicrs797046082GRCh38Chr 11, 89178399: 89178399
5TYRNM_000372.4(TYR): c.658C> T (p.Gln220Ter)SNVPathogenicrs797046083GRCh38Chr 11, 89178611: 89178611
6TYRNM_000372.4(TYR): c.661G> A (p.Glu221Lys)SNVPathogenicrs758115945GRCh37Chr 11, 88911782: 88911782
7TYRNM_000372.4(TYR): c.982G> A (p.Glu328Lys)SNVPathogenicrs61754380GRCh37Chr 11, 88924532: 88924532
8TYRNM_000372.4(TYR): c.580delA (p.Ile194Serfs)deletionLikely pathogenicrs797046132GRCh37Chr 11, 88911701: 88911701
9TYRNM_000372.4(TYR): c.929dupC (p.Arg311Lysfs)duplicationPathogenicrs281865527GRCh37Chr 11, 88924479: 88924479
10TYRNM_000372.4(TYR): c.242C> T (p.Pro81Leu)SNVPathogenicrs28940876GRCh37Chr 11, 88911363: 88911363
11TYRNM_000372.4(TYR): c.823G> T (p.Val275Phe)SNVPathogenicrs104894314GRCh37Chr 11, 88924373: 88924373
12TYRNM_000372.4(TYR): c.1118C> A (p.Thr373Lys)SNVPathogenicrs61754388GRCh37Chr 11, 88961072: 88961072
13TYRNM_000372.4(TYR): c.1147G> A (p.Asp383Asn)SNVPathogenicrs121908011GRCh37Chr 11, 88961101: 88961101
14TYRNM_000372.4(TYR): c.230G> A (p.Arg77Gln)SNVPathogenicrs61753185GRCh37Chr 11, 88911351: 88911351
15TYRNM_000372.4(TYR): c.1217C> T (p.Pro406Leu)SNVPathogenicrs104894313GRCh37Chr 11, 89017973: 89017973
16TYRNM_000372.4(TYR): c.265T> C (p.Cys89Arg)SNVPathogenicrs28940877GRCh37Chr 11, 88911386: 88911386
17TYRNM_000372.4(TYR): c.533G> A (p.Trp178Ter)SNVPathogenicrs61754360GRCh37Chr 11, 88911654: 88911654
18TYRNM_000372.4(TYR): c.1146C> A (p.Asn382Lys)SNVPathogenicrs104894315GRCh37Chr 11, 88961100: 88961100
19TYRNM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs)deletionPathogenicrs61754368GRCh37Chr 11, 88911853: 88911854
20TYRNM_000372.4(TYR): c.286dupA (p.Met96fs)duplicationPathogenicrs61753190GRCh37Chr 11, 88911407: 88911407
21TYRNM_000372.4(TYR): c.125A> G (p.Asp42Gly)SNVPathogenicrs28940878GRCh37Chr 11, 88911246: 88911246
22TYRNM_000372.4(TYR): c.164G> A (p.Cys55Tyr)SNVPathogenicrs28940879GRCh37Chr 11, 88911285: 88911285
23TYRNM_000372.4(TYR): c.616G> A (p.Ala206Thr)SNVPathogenicrs28940880GRCh37Chr 11, 88911737: 88911737
24TYRNM_000372.4(TYR): c.1255G> A (p.Gly419Arg)SNVPathogenicrs61754392GRCh37Chr 11, 89018011: 89018011
25TYRNM_000372.4(TYR): c.61C> T (p.Pro21Ser)SNVPathogenicrs61753178GRCh37Chr 11, 88911182: 88911182
26TYRNM_000372.4(TYR): c.140G> A (p.Gly47Asp)SNVPathogenicrs61753180GRCh37Chr 11, 88911261: 88911261
27TYRNM_000372.4(TYR): c.649C> T (p.Arg217Trp)SNVPathogenicrs63159160GRCh37Chr 11, 88911770: 88911770
28TYRNM_000372.4(TYR): c.896G> A (p.Arg299His)SNVPathogenicrs61754375GRCh37Chr 11, 88924446: 88924446
29TYRNM_000372.4(TYR): c.1112A> C (p.Asn371Thr)SNVPathogenicrs61754387GRCh37Chr 11, 88961066: 88961066
30TYRNM_000372.4(TYR): c.1164delT (p.His389Thrfs)deletionPathogenicrs281865522GRCh37Chr 11, 88961118: 88961118
31TYRNM_000372.4(TYR): c.1209G> T (p.Arg403Ser)SNVPathogenicrs104894316GRCh37Chr 11, 89017965: 89017965
32TYRNM_000372.4(TYR): c.1336G> A (p.Gly446Ser)SNVPathogenicrs104894317GRCh37Chr 11, 89018092: 89018092
33TYRNM_000372.4(TYR): c.1342G> A (p.Asp448Asn)SNVPathogenicrs104894318GRCh37Chr 11, 89018098: 89018098
34TYRNM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs)duplicationPathogenicrs61754399GRCh37Chr 11, 89028411: 89028411
35TYRNM_000372.4(TYR): c.1501dupC (p.Arg501Profs)duplicationPathogenicrs281865328GRCh37Chr 11, 89028445: 89028445
36TYRNM_000372.4(TYR): c.707G> A (p.Trp236Ter)SNVPathogenicrs61754367GRCh37Chr 11, 88911828: 88911828
37TYRNM_000372.4(TYR): c.646T> A (p.Leu216Met)SNVPathogenicrs61754363GRCh37Chr 11, 88911767: 88911767
38TYRNM_000372.4(TYR): c.1A> G (p.Met1Val)SNVPathogenicrs28940881GRCh37Chr 11, 88911122: 88911122
39TYRNM_000372.4(TYR): c.272G> A (p.Cys91Tyr)SNVPathogenicrs137854890GRCh37Chr 11, 88911393: 88911393
40OCA2NM_000275.2(OCA2): c.1327G> A (p.Val443Ile)SNVPathogenicrs121918166GRCh37Chr 15, 28230247: 28230247
41TYRNM_000372.4(TYR): c.1037-7T> ASNVLikely pathogenic, Pathogenicrs61754381GRCh37Chr 11, 88960984: 88960984
42TYRNM_000372.4(TYR): c.1204C> T (p.Arg402Ter)SNVPathogenicrs62645917GRCh37Chr 11, 89017960: 89017960
43TYRNM_000372.4(TYR): c.572delG (p.Gly191Aspfs)deletionPathogenicrs61754361GRCh37Chr 11, 88911693: 88911693
44TYRNM_000372.4(TYR): c.650G> A (p.Arg217Gln)SNVPathogenicrs61754365GRCh37Chr 11, 88911771: 88911771
45TYRNM_000372.4(TYR): c.820-3C> GSNVPathogenicrs61754371GRCh37Chr 11, 88924367: 88924367

Expression for genes affiliated with Albinism, Oculocutaneous, Type Ia

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

Pathways for genes affiliated with Albinism, Oculocutaneous, Type Ia

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GO Terms for genes affiliated with Albinism, Oculocutaneous, Type Ia

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

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:00331629.1OCA2, TYR

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

idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:00067269.7OCA2, TYR
2melanin biosynthetic processGO:00424389.3OCA2, TYR
3pigmentationGO:00434739.1OCA2, TYR
4cell proliferationGO:00082838.8OCA2, TYR

Sources for Albinism, Oculocutaneous, Type Ia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet