MCID: ALB009
MIFTS: 39

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 49 11
Oculocutaneous Albinism Type 1 21 45 22 51 24 65
Oca1a 45 22 51 67
Oca1 21 45 22 51
Oculocutaneous Albinism Type 1a 45 22 51
Oculocutaneous Albinism Tyrosinase Negative 67 24
Atn 45 67
Oculocutaneous Albinism, Tyrosinase-Negative 47
Oculocutaneous Albinism, Tyrosinase Negative 45
 
Tyrosinase-Negative Oculocutaneous Albinism 51
Albinism, Oculocutaneous, 1a 67
Albinism Oculocutaneous Ia 67
Albinism 1 45
Albinism I 67
Oca 1a 22
Oca-1a 67
Oca-Ia 67
Oca 1 22

Characteristics:

Orphanet epidemiological data:

51
oculocutaneous albinism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
oca1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
albinism, oculocutaneous, type ia:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 203100
Orphanet51 352731, 79431
ICD10 via Orphanet28 E70.3
MedGen34 C0268494
MeSH36 D016115
UMLS65 C0268494

Summaries for Albinism, Oculocutaneous, Type Ia

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OMIM:49 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 temperature-sensitive oculocutaneous albinism type 1, and has symptoms including generalized hypopigmentation, ocular albinism and nystagmus. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, eye and retina, and related mouse phenotype pigmentation.

NIH Rare Diseases:45 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:67 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 summary for NBK1166

Related Diseases for Albinism, Oculocutaneous, Type Ia

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Graphical network of the top 20 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

Symptoms:

 51 (show all 16)
  • iris albinism/ocular albinism
  • retinal albinism
  • macular dystrophy/absence/hypoplasia of the macula
  • photophobia
  • nystagmus
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • decreased hair pigmentation/hypopigmentation of hair
  • autosomal recessive inheritance
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • abnormal vep/visual evoked potential
  • excessive freckling
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • corpus callosum/septum pellucidum total/partial agenesis
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Albinism, Oculocutaneous, Type Ia:

(show all 25)
id Description Frequency HPO Source Accession
1 generalized hypopigmentation hallmark (90%) HP:0007513
2 ocular albinism hallmark (90%) HP:0001107
3 nystagmus hallmark (90%) HP:0000639
4 photophobia hallmark (90%) HP:0000613
5 freckling typical (50%) HP:0001480
6 abnormality of visual evoked potentials typical (50%) HP:0000649
7 optic atrophy typical (50%) HP:0000648
8 visual impairment typical (50%) HP:0000505
9 neoplasm of the skin occasional (7.5%) HP:0008069
10 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
11 reduced bone mineral density occasional (7.5%) HP:0004349
12 hyperkeratosis occasional (7.5%) HP:0000962
13 absent skin pigmentation HP:0200098
14 white hair HP:0011364
15 hypoplasia of the fovea HP:0007750
16 reduced visual acuity HP:0007663
17 ocular albinism HP:0001107
18 albinism HP:0001022
19 nystagmus HP:0000639
20 blue irides HP:0000635
21 photophobia HP:0000613
22 myopia HP:0000545
23 visual impairment HP:0000505
24 strabismus HP:0000486
25 astigmatism HP:0000483

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 AlbinismRecruitingNCT01838655Phase 1, Phase 2
2Clinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismRecruitingNCT00808106

Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ia

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 122 TYR
2 Oculocutaneous Albinism Type 1a22

Anatomical Context for Albinism, Oculocutaneous, Type Ia

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

33
Skin, Eye, Retina, Bone, Lung, Kidney, Myeloid

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1MITF, 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:

67 (show all 101)
id Symbol AA change Variation ID SNP ID
1TYRp.His19GlnVAR_007649
2TYRp.Pro21SerVAR_007650
3TYRp.Asp42GlyVAR_007651rs28940878
4TYRp.Gly47AspVAR_007652rs61753180
5TYRp.Cys55TyrVAR_007654rs28940879
6TYRp.Arg77GlnVAR_007655rs61753185
7TYRp.Arg77TrpVAR_007656rs61753184
8TYRp.Trp80ArgVAR_007657
9TYRp.Pro81LeuVAR_007658rs28940876
10TYRp.Cys89ArgVAR_007659rs28940877
11TYRp.Gly97ArgVAR_007660
12TYRp.Phe176IleVAR_007661
13TYRp.Ala206ThrVAR_007663rs28940880
14TYRp.Leu216MetVAR_007664
15TYRp.Arg217GlyVAR_007665
16TYRp.Arg217TrpVAR_007666
17TYRp.Arg217GlnVAR_007667
18TYRp.Gly253ArgVAR_007668
19TYRp.Val275PheVAR_007669rs104894314
20TYRp.Cys289ArgVAR_007670
21TYRp.Arg299HisVAR_007671rs61754375
22TYRp.Arg299SerVAR_007672
23TYRp.Ser339GlyVAR_007676
24TYRp.Ala355ProVAR_007678
25TYRp.Asn371ThrVAR_007679
26TYRp.Thr373LysVAR_007680
27TYRp.Asn382LysVAR_007682
28TYRp.Asp383AsnVAR_007683
29TYRp.Ser395AsnVAR_007685
30TYRp.Arg403SerVAR_007687
31TYRp.Pro406LeuVAR_007689
32TYRp.Gly419ArgVAR_007690
33TYRp.Arg422GlnVAR_007691
34TYRp.Gly446SerVAR_007692
35TYRp.Asp448AsnVAR_007693
36TYRp.Leu288SerVAR_007927
37TYRp.Glu294LysVAR_007928
38TYRp.Glu328GlnVAR_007929
39TYRp.Gly346GluVAR_007930
40TYRp.Ala355GluVAR_007931
41TYRp.Ser361ArgVAR_007932
42TYRp.His367TyrVAR_007933
43TYRp.Met370ThrVAR_007934
44TYRp.Asn371TyrVAR_007935
45TYRp.Val393PheVAR_007936
46TYRp.Pro431LeuVAR_007938
47TYRp.Cys289GlyVAR_009237
48TYRp.Trp400LeuVAR_009238
49TYRp.Cys36TyrVAR_021683
50TYRp.Ser44GlyVAR_021684
51TYRp.Ser44ArgVAR_021685
52TYRp.Gly47ValVAR_021686
53TYRp.Gln68HisVAR_021687
54TYRp.Ser79LeuVAR_021688
55TYRp.Gly109ArgVAR_021689
56TYRp.Thr155SerVAR_021690
57TYRp.Val177PheVAR_021691rs138487695
58TYRp.Met179LeuVAR_021692
59TYRp.His180AsnVAR_021693
60TYRp.Asp199AsnVAR_021694
61TYRp.Ala201SerVAR_021695
62TYRp.Pro205ThrVAR_021696rs61754362
63TYRp.Arg217SerVAR_021697
64TYRp.Trp236LeuVAR_021699
65TYRp.Trp236SerVAR_021700
66TYRp.Arg239TrpVAR_021701
67TYRp.Asp240ValVAR_021702
68TYRp.Lys243ThrVAR_021703
69TYRp.His256TyrVAR_021704
70TYRp.Trp272CysVAR_021705
71TYRp.Glu294GlyVAR_021706
72TYRp.Val318GluVAR_021707
73TYRp.Ser329ProVAR_021708
74TYRp.Met332ThrVAR_021709
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_021722
88TYRp.Met426LysVAR_021723
89TYRp.Val427GlyVAR_021724
90TYRp.Arg434IleVAR_021725
91TYRp.Asn435AspVAR_021726
92TYRp.Phe439ValVAR_021727
93TYRp.Asp444GlyVAR_021728
94TYRp.Ile198ThrVAR_071756
95TYRp.Ser50LeuVAR_072592
96TYRp.Cys91TyrVAR_072593
97TYRp.Arg298TrpVAR_072594
98TYRp.Ala355ValVAR_072595
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)single nucleotide variantLikely pathogenicrs367543066GRCh38Chr 11, 89178504: 89178504
2TYRNM_000372.4(TYR): c.139G> A (p.Gly47Ser)single nucleotide variantLikely pathogenicrs796051878GRCh37Chr 11, 88911260: 88911260
3TYRNM_000372.4(TYR): c.902C> T (p.Pro301Leu)single nucleotide variantLikely pathogenicrs796051880GRCh38Chr 11, 89191284: 89191284
4TYRNM_000372.4(TYR): c.1064C> T (p.Ala355Val)single nucleotide variantPathogenicrs151206295GRCh38Chr 11, 89227850: 89227850
5TYRNM_000372.4(TYR): c.1234C> G (p.Pro412Ala)single nucleotide variantLikely pathogenicrs797046081GRCh37Chr 11, 89017990: 89017990
6TYRNM_000372.4(TYR): c.446A> G (p.Tyr149Cys)single nucleotide variantLikely pathogenicrs797046082GRCh38Chr 11, 89178399: 89178399
7TYRNM_000372.4(TYR): c.658C> T (p.Gln220Ter)single nucleotide variantPathogenicrs797046083GRCh38Chr 11, 89178611: 89178611
8TYRNM_000372.4(TYR): c.661G> A (p.Glu221Lys)single nucleotide variantPathogenicrs758115945GRCh37Chr 11, 88911782: 88911782
9TYRNM_000372.4(TYR): c.982G> A (p.Glu328Lys)single nucleotide variantPathogenicrs61754380GRCh37Chr 11, 88924532: 88924532
10TYRNM_000372.4(TYR): c.580delA (p.Ile194Serfs)deletionLikely pathogenicrs797046132GRCh37Chr 11, 88911701: 88911701
11TYRNM_000372.4(TYR): c.929dupC (p.Arg311Lysfs)duplicationPathogenicrs281865527GRCh37Chr 11, 88924479: 88924479
12TYRNM_000372.4(TYR): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs28940876GRCh37Chr 11, 88911363: 88911363
13TYRNM_000372.4(TYR): c.823G> T (p.Val275Phe)single nucleotide variantPathogenicrs104894314GRCh37Chr 11, 88924373: 88924373
14TYRNM_000372.4(TYR): c.1118C> A (p.Thr373Lys)single nucleotide variantPathogenicrs61754388GRCh37Chr 11, 88961072: 88961072
15TYRNM_000372.4(TYR): c.1147G> A (p.Asp383Asn)single nucleotide variantPathogenicrs121908011GRCh37Chr 11, 88961101: 88961101
16TYRNM_000372.4(TYR): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs61753185GRCh37Chr 11, 88911351: 88911351
17TYRNM_000372.4(TYR): c.265T> C (p.Cys89Arg)single nucleotide variantPathogenicrs28940877GRCh37Chr 11, 88911386: 88911386
18TYRNM_000372.4(TYR): c.533G> A (p.Trp178Ter)single nucleotide variantPathogenicrs61754360GRCh37Chr 11, 88911654: 88911654
19TYRNM_000372.4(TYR): c.1146C> A (p.Asn382Lys)single nucleotide variantPathogenicrs104894315GRCh37Chr 11, 88961100: 88961100
20TYRNM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs)deletionPathogenicrs61754368GRCh37Chr 11, 88911853: 88911854
21TYRNM_000372.4(TYR): c.286dupA (p.Met96fs)duplicationPathogenicrs61753190GRCh37Chr 11, 88911407: 88911407
22TYRNM_000372.4(TYR): c.125A> G (p.Asp42Gly)single nucleotide variantPathogenicrs28940878GRCh37Chr 11, 88911246: 88911246
23TYRNM_000372.4(TYR): c.164G> A (p.Cys55Tyr)single nucleotide variantPathogenicrs28940879GRCh37Chr 11, 88911285: 88911285
24TYRNM_000372.4(TYR): c.616G> A (p.Ala206Thr)single nucleotide variantPathogenicrs28940880GRCh37Chr 11, 88911737: 88911737
25TYRNM_000372.4(TYR): c.1255G> A (p.Gly419Arg)single nucleotide variantPathogenicrs61754392GRCh37Chr 11, 89018011: 89018011
26TYRNM_000372.4(TYR): c.61C> T (p.Pro21Ser)single nucleotide variantPathogenicrs61753178GRCh37Chr 11, 88911182: 88911182
27TYRNM_000372.4(TYR): c.140G> A (p.Gly47Asp)single nucleotide variantPathogenicrs61753180GRCh37Chr 11, 88911261: 88911261
28TYRNM_000372.4(TYR): c.649C> T (p.Arg217Trp)single nucleotide variantPathogenicrs63159160GRCh37Chr 11, 88911770: 88911770
29TYRNM_000372.4(TYR): c.896G> A (p.Arg299His)single nucleotide variantPathogenicrs61754375GRCh37Chr 11, 88924446: 88924446
30TYRNM_000372.4(TYR): c.1112A> C (p.Asn371Thr)single nucleotide variantPathogenicrs61754387GRCh37Chr 11, 88961066: 88961066
31TYRNM_000372.4(TYR): c.1164delT (p.His389Thrfs)deletionPathogenicrs281865522GRCh37Chr 11, 88961118: 88961118
32TYRNM_000372.4(TYR): c.1209G> T (p.Arg403Ser)single nucleotide variantPathogenicrs104894316GRCh37Chr 11, 89017965: 89017965
33TYRNM_000372.4(TYR): c.1336G> A (p.Gly446Ser)single nucleotide variantPathogenicrs104894317GRCh37Chr 11, 89018092: 89018092
34TYRNM_000372.4(TYR): c.1342G> A (p.Asp448Asn)single nucleotide variantPathogenicrs104894318GRCh37Chr 11, 89018098: 89018098
35TYRNM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs)duplicationPathogenicrs61754399GRCh37Chr 11, 89028411: 89028411
36TYRNM_000372.4(TYR): c.1501dupC (p.Arg501Profs)duplicationPathogenicrs281865328GRCh37Chr 11, 89028445: 89028445
37TYRNM_000372.4(TYR): c.707G> A (p.Trp236Ter)single nucleotide variantPathogenicrs61754367GRCh37Chr 11, 88911828: 88911828
38TYRNM_000372.4(TYR): c.646T> A (p.Leu216Met)single nucleotide variantPathogenicrs61754363GRCh37Chr 11, 88911767: 88911767
39TYRNM_000372.4(TYR): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs28940881GRCh37Chr 11, 88911122: 88911122
40TYRNM_000372.4(TYR): c.272G> A (p.Cys91Tyr)single nucleotide variantPathogenicrs137854890GRCh37Chr 11, 88911393: 88911393
41TYRNM_000372.4(TYR): c.1037-7T> Asingle nucleotide variantPathogenicrs61754381GRCh37Chr 11, 88960984: 88960984
42TYRNM_000372.4(TYR): c.1204C> T (p.Arg402Ter)single nucleotide variantPathogenicrs62645917GRCh37Chr 11, 89017960: 89017960
43TYRNM_000372.4(TYR): c.572delG (p.Gly191Aspfs)deletionPathogenicrs61754361GRCh37Chr 11, 88911693: 88911693
44TYRNM_000372.4(TYR): c.650G> A (p.Arg217Gln)single nucleotide variantPathogenicrs61754365GRCh37Chr 11, 88911771: 88911771
45TYRNM_000372.4(TYR): c.820-3C> Gsingle nucleotide variantPathogenicrs61754371GRCh37Chr 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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Pathways related to Albinism, Oculocutaneous, Type Ia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MITF, TYR

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

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Sources for Albinism, Oculocutaneous, Type Ia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet