ATN
MCID: OCL017
MIFTS: 44

Oculocutaneous Albinism Type 1 (ATN) malady

Eye, Skin, Metabolic categories

Summaries for Oculocutaneous Albinism Type 1

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Oculocutaneous Albinism Type 1, also known as oculocutaneous albinism type 1a, is related to oculocutaneous albinism and albinism, and has symptoms including autosomal recessive inheritance, corpus callosum/septum pellucidum total/partial agenesis and nystagmus. 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 and retina, and related mouse phenotypes are limbs/digits/tail and no phenotypic analysis.

Wikipedia:64 Oculocutaneous Albinism Type I or –Type 1A (OCA1A) is an autosomal recessive skin disease associated... more...

Description from OMIM:47 203100,606952

GeneReviews summary for oca1

Aliases & Classifications for Oculocutaneous Albinism Type 1

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

oculocutaneous albinism type 1 19 43 20 22 49 61
oculocutaneous albinism type 1a 43 20 22 49
oca1 19 43 49
oca1a 43 49
tyrosinase-negative oculocutaneous albinism 49
albinism, oculocutaneous, type ia 47
albinism 1 43
atn 43


External Ids:

ICD10 via Orphanet26 E70.3

Related Diseases for Oculocutaneous Albinism Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Oculocutaneous Albinism Type 1:



Diseases related to oculocutaneous albinism type 1

Clinical Features for Oculocutaneous Albinism Type 1

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203100,606952

Clinical synopsis from OMIM:

203100

Symptoms:

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

Drugs & Therapeutics for Oculocutaneous Albinism Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Oculocutaneous Albinism Type 1

Drug clinical trials:

Search ClinicalTrials for Oculocutaneous Albinism Type 1

Search NIH Clinical Center for Oculocutaneous Albinism Type 1

Search CenterWatch for Oculocutaneous Albinism Type 1

Genetic Tests for Oculocutaneous Albinism Type 1

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Oculocutaneous Albinism Type 1:

33
Skin, Retina

Animal Models for Oculocutaneous Albinism Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Oculocutaneous Albinism Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9HPS1, TYR, OCA2
2MP:00030128.3HPS3, HPS1, TYR, OCA2
3MP:00011868.0SLC45A2, HPS3, HPS1, TYR, OCA2
4MP:00053918.0OCA2, TYR, HPS1, HPS3, SLC45A2
5MP:00053877.5CTSC, OCA2, TYR, HPS1, HPS3
6MP:00107717.4CTSC, OCA2, TYR, HPS1, HPS3, SLC45A2
7MP:00053767.3CTSC, OCA2, TYR, HPS1, HPS3, SLC45A2

Publications for Oculocutaneous Albinism Type 1

Sources:
51PubMed
See all sources

Articles related to Oculocutaneous Albinism Type 1:

idTitleAuthorsYear
1
Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. (16717457)
2006

Genetic Variations for Oculocutaneous Albinism Type 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Oculocutaneous Albinism Type 1:

63 (show all 92)
id Symbol AA change Variation 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

Expression for genes affiliated with Oculocutaneous Albinism Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Oculocutaneous Albinism Type 1

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1levodopa45 1110.7HPS1, TYR
2quinone45 2410.3TYRL, TYR

GO Terms for genes affiliated with Oculocutaneous Albinism Type 1

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1HPS1, TYR, CTSC
2melanosome membraneGO:0331628.5SLC45A2, TYR, OCA2

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

idNameGO IDScoreTop Affiliating Genes
1eye pigment biosynthetic processGO:0067269.3TYR, OCA2
2melanocyte differentiationGO:0303189.2HPS1, OCA2
3melanin biosynthetic processGO:0424389.0SLC45A2, OCA2
4visual perceptionGO:0076018.9SLC45A2, HPS1, TYR

Products for genes affiliated with Oculocutaneous Albinism Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculocutaneous Albinism Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet