ATN
MCID: OCL017
MIFTS: 59

Oculocutaneous Albinism Type 1 (ATN) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases categories
Download this MalaCard

Summaries for Oculocutaneous Albinism Type 1

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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

MalaCards based summary: Oculocutaneous Albinism Type 1, also known as oculocutaneous albinism type 1a, is related to oculocutaneous albinism and albinism, and has symptoms including iris albinism/ocular albinism, retinal albinism and macular dystrophy/absence/hypoplasia of the macula. An important gene associated with Oculocutaneous Albinism Type 1 is TYR (tyrosinase). The compounds levodopa and quinone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Wikipedia:65 Oculocutaneous Albinism Type I or ?Type 1A (OCA1A) is an autosomal recessive skin disease associated... more...

Descriptions from OMIM:46 203100,606952

GeneReviews summary for oca1

Aliases & Classifications for Oculocutaneous Albinism Type 1

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Oculocutaneous Albinism Type 1, Aliases & Descriptions:

Name: Oculocutaneous Albinism Type 1 19 42 20 22 48 62
Oculocutaneous Albinism Type 1a 42 20 22 48 62
Oca1 19 42 48
Tyrosinase-Negative Oculocutaneous Albinism 48 62
Oca1a 42 48
 
Oculocutaneous Albinism, Tyrosinase-Negative 44
Oculocutaneous Albinism, Tyrosinase Negative 42
Albinism, Oculocutaneous, Type Ia 46
Albinism 1 42
Atn 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
oculocutaneous albinism type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
oculocutaneous albinism type 1a:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

ICD10 via Orphanet26 E70.3

Related Diseases for Oculocutaneous Albinism Type 1

About this section

Graphical network of diseases related to Oculocutaneous Albinism Type 1:



Diseases related to oculocutaneous albinism type 1

Symptoms for Oculocutaneous Albinism Type 1

About this section

Symptoms by clinical synopsis from OMIM:

203100

Clinical features from OMIM:

203100,606952

Symptoms:

48 (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 Oculocutaneous Albinism Type 1:

(show all 27)
id Description Frequency HPO Source Accession
1 photophobia hallmark (90%) HP:0000613
2 nystagmus hallmark (90%) HP:0000639
3 abnormality of the macula hallmark (90%) HP:0001103
4 ocular albinism hallmark (90%) HP:0001107
5 hypopigmentation of hair hallmark (90%) HP:0005599
6 generalized hypopigmentation hallmark (90%) HP:0007513
7 visual impairment typical (50%) HP:0000505
8 optic atrophy typical (50%) HP:0000648
9 abnormality of vision evoked potentials typical (50%) HP:0000649
10 freckling typical (50%) HP:0001480
11 hyperkeratosis occasional (7.5%) HP:0000962
12 reduced bone mineral density occasional (7.5%) HP:0004349
13 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
14 neoplasm of the skin occasional (7.5%) HP:0008069
15 autosomal recessive inheritance HP:0000007
16 astigmatism HP:0000483
17 strabismus HP:0000486
18 visual impairment HP:0000505
19 myopia HP:0000545
20 photophobia HP:0000613
21 blue irides HP:0000635
22 nystagmus HP:0000639
23 ocular albinism HP:0001107
24 congenital onset HP:0003577
25 hypoplasia of the fovea HP:0007750
26 white hair HP:0011364
27 absent skin pigmentation HP:0200098

Drugs & Therapeutics for Oculocutaneous Albinism Type 1

About this section

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 1

Search NIH Clinical Center for Oculocutaneous Albinism Type 1

Genetic Tests for Oculocutaneous Albinism Type 1

About this section

Genetic tests related to Oculocutaneous Albinism Type 1:

id Genetic test Affiliating Genes
1 Oculocutaneous Albinism Type 120 22 TYR
2 Oculocutaneous Albinism Type 1a20 22

Anatomical Context for Oculocutaneous Albinism Type 1

About this section

MalaCards organs/tissues related to Oculocutaneous Albinism Type 1:

32
Skin, Eye, Retina, Testes

Animal Models for Oculocutaneous Albinism Type 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5HPS1, OCA2, TYR
2MP:00030128.4HPS1, HPS3, OCA2, TYR
3MP:00053978.2CTSC, HPS1, HPS3, OCA2
4MP:00011868.1SLC45A2, HPS1, HPS3, OCA2, TYR
5MP:00053918.0TYR, OCA2, HPS3, HPS1, SLC45A2
6MP:00053877.7TYR, OCA2, HPS3, HPS1, CTSC
7MP:00107717.4TYR, OCA2, HPS3, HPS1, CTSC, SLC45A2
8MP:00053767.3TYR, OCA2, HPS3, HPS1, CTSC, SLC45A2

Publications for Oculocutaneous Albinism Type 1

About this section

Articles related to Oculocutaneous Albinism Type 1:

(show all 20)
idTitleAuthorsYear
1
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). (25216246)
2014
2
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. (24721949)
2014
3
Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients]. (22097729)
2011
4
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. (20861851)
2011
5
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China. (22088535)
2011
6
Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1. (20447099)
2010
7
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. (19006216)
2008
8
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. (17516931)
2007
9
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. (17355913)
2007
10
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (16417222)
2006
11
Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. (15937636)
2005
12
A case of familial trichomegaly in association with oculocutaneous albinism type 1. (14752500)
2004
13
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. (15635296)
2004
14
Coinheritance of two rare genodermatoses (Papillon-LefA"vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. (15606524)
2004
15
Oculocutaneous albinism type 1: the last 100 years. (12753405)
2003
16
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). (11858948)
2002
17
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. (11284711)
2001
18
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins. (11641241)
2001
19
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. (11041207)
2000
20
Oculocutaneous Albinism Type 1 (20301345)
1993

Variations for Oculocutaneous Albinism Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Oculocutaneous Albinism Type 1:

64 (show all 93)
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.Cys289ArgVAR_007670
20TYRp.Arg299HisVAR_007671rs61754375
21TYRp.Arg299SerVAR_007672
22TYRp.Ser339GlyVAR_007676
23TYRp.Ala355ProVAR_007678
24TYRp.Asn371ThrVAR_007679
25TYRp.Thr373LysVAR_007680
26TYRp.Asn382LysVAR_007682
27TYRp.Asp383AsnVAR_007683
28TYRp.Ser395AsnVAR_007685
29TYRp.Arg403SerVAR_007687
30TYRp.Pro406LeuVAR_007689
31TYRp.Gly419ArgVAR_007690
32TYRp.Arg422GlnVAR_007691
33TYRp.Gly446SerVAR_007692
34TYRp.Asp448AsnVAR_007693
35TYRp.Leu288SerVAR_007927
36TYRp.Glu294LysVAR_007928
37TYRp.Glu328GlnVAR_007929
38TYRp.Gly346GluVAR_007930
39TYRp.Ala355GluVAR_007931
40TYRp.Ser361ArgVAR_007932
41TYRp.His367TyrVAR_007933
42TYRp.Met370ThrVAR_007934
43TYRp.Asn371TyrVAR_007935
44TYRp.Val393PheVAR_007936
45TYRp.Pro431LeuVAR_007938
46TYRp.Cys289GlyVAR_009237
47TYRp.Trp400LeuVAR_009238
48TYRp.Cys36TyrVAR_021683
49TYRp.Ser44GlyVAR_021684
50TYRp.Ser44ArgVAR_021685
51TYRp.Gly47ValVAR_021686
52TYRp.Gln68HisVAR_021687
53TYRp.Ser79LeuVAR_021688
54TYRp.Gly109ArgVAR_021689
55TYRp.Thr155SerVAR_021690
56TYRp.Val177PheVAR_021691rs138487695
57TYRp.Met179LeuVAR_021692
58TYRp.His180AsnVAR_021693
59TYRp.Asp199AsnVAR_021694
60TYRp.Ala201SerVAR_021695
61TYRp.Pro205ThrVAR_021696rs61754362
62TYRp.Arg217SerVAR_021697
63TYRp.Trp236LeuVAR_021699
64TYRp.Trp236SerVAR_021700
65TYRp.Arg239TrpVAR_021701
66TYRp.Asp240ValVAR_021702
67TYRp.Lys243ThrVAR_021703
68TYRp.His256TyrVAR_021704
69TYRp.Trp272CysVAR_021705
70TYRp.Glu294GlyVAR_021706
71TYRp.Val318GluVAR_021707
72TYRp.Ser329ProVAR_021708
73TYRp.Met332ThrVAR_021709
74TYRp.Glu345GlyVAR_021710
75TYRp.Gln378LysVAR_021711
76TYRp.Ser395ArgVAR_021712
77TYRp.Glu398AlaVAR_021713
78TYRp.Glu398ValVAR_021714
79TYRp.Arg402LeuVAR_021715
80TYRp.His404AsnVAR_021716
81TYRp.Arg405LeuVAR_021717
82TYRp.Gln408HisVAR_021718
83TYRp.Glu409AspVAR_021719
84TYRp.Ala416SerVAR_021720
85TYRp.Pro417HisVAR_021721
86TYRp.Ser424PheVAR_021722
87TYRp.Met426LysVAR_021723
88TYRp.Val427GlyVAR_021724
89TYRp.Arg434IleVAR_021725
90TYRp.Asn435AspVAR_021726
91TYRp.Phe439ValVAR_021727
92TYRp.Asp444GlyVAR_021728
93TYRp.Ile198ThrVAR_071756

Clinvar genetic disease variations for Oculocutaneous Albinism Type 1:

6 (show all 35)
id Gene Name 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.929dupC (p.Arg311Lysfs)duplicationPathogenicrs281865527GRCh37Chr 11, 88924479: 88924480
3TYRNM_000372.4(TYR): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs28940876GRCh37Chr 11, 88911363: 88911363
4TYRNM_000372.4(TYR): c.823G> T (p.Val275Phe)single nucleotide variantPathogenicrs104894314GRCh37Chr 11, 88924373: 88924373
5TYRNM_000372.4(TYR): c.1118C> A (p.Thr373Lys)single nucleotide variantPathogenicrs61754388GRCh37Chr 11, 88961072: 88961072
6TYRNM_000372.4(TYR): c.1147G> A (p.Asp383Asn)single nucleotide variantPathogenicrs121908011GRCh37Chr 11, 88961101: 88961101
7TYRNM_000372.4(TYR): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs61753185GRCh37Chr 11, 88911351: 88911351
8TYRNM_000372.4(TYR): c.1217C> T (p.Pro406Leu)single nucleotide variantPathogenicrs104894313GRCh37Chr 11, 89017973: 89017973
9TYRNM_000372.4(TYR): c.1205G> A (p.Arg402Gln)single nucleotide variantPathogenic, risk factorrs1126809GRCh37Chr 11, 89017961: 89017961
10TYRNM_000372.4(TYR): c.265T> C (p.Cys89Arg)single nucleotide variantPathogenicrs28940877GRCh37Chr 11, 88911386: 88911386
11TYRNM_000372.4(TYR): c.-199C> Asingle nucleotide variantPathogenicrs1799989GRCh37Chr 11, 88910923: 88910923
12TYRNM_000372.4(TYR): c.533G> A (p.Trp178Ter)single nucleotide variantPathogenicrs61754360GRCh37Chr 11, 88911654: 88911654
13TYRNM_000372.4(TYR): c.568delG (p.Gly191Aspfs)deletionPathogenicrs61754361GRCh37Chr 11, 88911689: 88911689
14TYRNM_000372.4(TYR): c.1146C> A (p.Asn382Lys)single nucleotide variantPathogenicrs104894315GRCh37Chr 11, 88961100: 88961100
15TYRNM_000372.4(TYR): c.732_733delTG (p.Cys244Terfs)deletionPathogenicrs61754368GRCh37Chr 11, 88911851: 88911852
16TYRNM_000372.4(TYR): c.286dupA (p.Met96fs)duplicationPathogenicrs61753190GRCh37Chr 11, 88911407: 88911407
17TYRNM_000372.4(TYR): c.125A> G (p.Asp42Gly)single nucleotide variantPathogenicrs28940878GRCh37Chr 11, 88911246: 88911246
18TYRNM_000372.4(TYR): c.164G> A (p.Cys55Tyr)single nucleotide variantPathogenicrs28940879GRCh37Chr 11, 88911285: 88911285
19TYRNM_000372.4(TYR): c.616G> A (p.Ala206Thr)single nucleotide variantPathogenicrs28940880GRCh37Chr 11, 88911737: 88911737
20TYRNM_000372.4(TYR): c.1255G> A (p.Gly419Arg)single nucleotide variantPathogenicrs61754392GRCh37Chr 11, 89018011: 89018011
21TYRNM_000372.4(TYR): c.61C> T (p.Pro21Ser)single nucleotide variantPathogenicrs61753178GRCh37Chr 11, 88911182: 88911182
22TYRNM_000372.4(TYR): c.140G> A (p.Gly47Asp)single nucleotide variantPathogenicrs61753180GRCh37Chr 11, 88911261: 88911261
23TYRNM_000372.4(TYR): c.649C> T (p.Arg217Trp)single nucleotide variantPathogenicrs63159160GRCh37Chr 11, 88911770: 88911770
24TYRNM_000372.4(TYR): c.896G> A (p.Arg299His)single nucleotide variantPathogenicrs61754375GRCh37Chr 11, 88924446: 88924446
25TYRNM_000372.4(TYR): c.1112A> C (p.Asn371Thr)single nucleotide variantPathogenicrs61754387GRCh37Chr 11, 88961066: 88961066
26TYRNM_000372.4(TYR): c.1164delT (p.His389Thrfs)deletionPathogenicrs281865522GRCh37Chr 11, 88961118: 88961118
27TYRNM_000372.4(TYR): c.1209G> T (p.Arg403Ser)single nucleotide variantPathogenicrs104894316GRCh37Chr 11, 89017965: 89017965
28TYRNM_000372.4(TYR): c.1336G> A (p.Gly446Ser)single nucleotide variantPathogenicrs104894317GRCh37Chr 11, 89018092: 89018092
29TYRNM_000372.4(TYR): c.1342G> A (p.Asp448Asn)single nucleotide variantPathogenicrs104894318GRCh37Chr 11, 89018098: 89018098
30TYRNM_000372.4(TYR): c.1467dupT (p.Ala490Cysfs)duplicationPathogenicrs61754399GRCh37Chr 11, 89028411: 89028412
31TYRNM_000372.4(TYR): c.1501dupC (p.Arg501Profs)duplicationPathogenicrs281865328GRCh37Chr 11, 89028445: 89028446
32TYRNM_000372.4(TYR): c.707G> A (p.Trp236Ter)single nucleotide variantPathogenicrs61754367GRCh37Chr 11, 88911828: 88911828
33TYRNM_000372.4(TYR): c.646T> A (p.Leu216Met)single nucleotide variantPathogenicrs61754363GRCh37Chr 11, 88911767: 88911767
34TYRNM_000372.4(TYR): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs28940881GRCh37Chr 11, 88911122: 88911122
35TYRNM_000372.4(TYR): c.962G> A (p.Cys321Tyr)single nucleotide variantPathogenicrs137854890GRCh37Chr 11, 88911393: 88911393

Expression for genes affiliated with Oculocutaneous Albinism Type 1

About this section
Expression patterns in normal tissues for genes affiliated with Oculocutaneous Albinism Type 1

Search GEO for disease gene expression data for Oculocutaneous Albinism Type 1.

Pathways for genes affiliated with Oculocutaneous Albinism Type 1

About this section

Compounds for genes affiliated with Oculocutaneous Albinism Type 1

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Oculocutaneous Albinism Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1levodopa44 1110.6HPS1, TYR
2quinone44 2410.3TYR, TYRL

GO Terms for genes affiliated with Oculocutaneous Albinism Type 1

About this section

Cellular components related to Oculocutaneous Albinism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0CTSC, HPS1, TYR
2melanosome membraneGO:0331628.5SLC45A2, OCA2, TYR

Biological processes related to Oculocutaneous Albinism Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:0067269.3OCA2, TYR
2melanocyte differentiationGO:0303189.2HPS1, OCA2
3melanin biosynthetic processGO:0424389.0SLC45A2, OCA2
4visual perceptionGO:0076018.8SLC45A2, HPS1, TYR

Products for genes affiliated with Oculocutaneous Albinism Type 1

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Oculocutaneous Albinism Type 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet