DKCA
MCID: DYS039
MIFTS: 18

Dyskeratosis Congenita Autosomal Dominant (DKCA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Summaries for Dyskeratosis Congenita Autosomal Dominant

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34MalaCards
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MalaCards: Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita and retinitis.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

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44NIH Rare Diseases, 23GTR, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

dyskeratosis congenita autosomal dominant 44
dyskeratosis congenita, autosomal dominant 46 63
autosomal dominant dyskeratosis congenita 44 23
dyskeratosis congenita scoggins type 44
dkca 44


Related Diseases for Dyskeratosis Congenita Autosomal Dominant

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Dyskeratosis Congenita Autosomal Dominant:



Diseases related to dyskeratosis congenita autosomal dominant

Symptoms for Dyskeratosis Congenita Autosomal Dominant

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Dyskeratosis Congenita Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Dominant

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

Search CenterWatch for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

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23GTR
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Genetic tests related to Dyskeratosis Congenita Autosomal Dominant:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita Autosomal Dominant23

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

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Animal Models for Dyskeratosis Congenita Autosomal Dominant or affiliated genes

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Publications for Dyskeratosis Congenita Autosomal Dominant

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Variations for Dyskeratosis Congenita Autosomal Dominant

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

1 (show all 44)
id Gene Name Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)single nucleotide variantPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
2TINF2NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)single nucleotide variantPathogenicrs199422321GRCh37Chr 14, 24709980: 24709980
3TINF2NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)single nucleotide variantPathogenicrs142777869GRCh37Chr 14, 24709952: 24709952
4TINF2NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
5TINF2NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)single nucleotide variantPathogenicrs199422322GRCh37Chr 14, 24709845: 24709845
6TINF2NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
7TINF2NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
8TINF2NM_001099274.1(TINF2): c.848C> A (p.Pro283His)single nucleotide variantPathogenicrs199422313GRCh37Chr 14, 24709838: 24709838
9TINF2NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)duplicationPathogenicrs199422315GRCh37Chr 14, 24709836: 24709837
10TINF2NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)single nucleotide variantPathogenicrs199422314GRCh37Chr 14, 24709836: 24709836
11TINF2NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)single nucleotide variantPathogenicrs199422316GRCh37Chr 14, 24709826: 24709826
12TINF2NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)indelPathogenicrs199422318GRCh37Chr 14, 24709820: 24709821
13TINF2NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)single nucleotide variantPathogenicrs199422319GRCh37Chr 14, 24709815: 24709815
14TINF2NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)deletionPathogenicrs199422320GRCh37Chr 14, 24709794: 24709794
15TERTTERT: c.1710G> Y (p.Lys570Asn)single nucleotide variantPathogenic
16TERTNM_198253.2(TERT): c.2029G> T (p.Gly677Cys)single nucleotide variantPathogenicrs199422296GRCh37Chr 5, 1279507: 1279507
17TERTNM_198253.2(TERT): c.2045G> A (p.Gly682Asp)single nucleotide variantPathogenicrs199422295GRCh37Chr 5, 1279491: 1279491
18TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)single nucleotide variantPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
19TERTNM_198253.2(TERT): c.2162C> G (p.Pro721Arg)single nucleotide variantPathogenicrs199422299GRCh37Chr 5, 1278880: 1278880
20TERTNM_198253.2(TERT): c.2177C> T (p.Thr726Met)single nucleotide variantPathogenicrs149566858GRCh37Chr 5, 1278865: 1278865
21TERTNM_198253.2(TERT): c.2935C> T (p.Arg979Trp)single nucleotide variantPathogenicrs199422305GRCh37Chr 5, 1260624: 1260624
22TERCNR_001566.1(TERC): n.-240_-239delCTdeletionPathogenicrs199422255GRCh37Chr 3, 169483087: 169483088
23TERCNR_001566.1(TERC): n.100T> Asingle nucleotide variantPathogenicrs199422269GRCh37Chr 3, 169482749: 169482749
24TERCNR_001566.1(TERC): n.143G> Asingle nucleotide variantPathogenicrs199422274GRCh37Chr 3, 169482706: 169482706
25TERCNR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGCdeletionPathogenicrs199422278GRCh37Chr 3, 169482620: 169482633
26TERCNR_001566.1(TERC): n.228G> Asingle nucleotide variantPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
27TERCNR_001566.1(TERC): n.2G> Csingle nucleotide variantPathogenicrs199422257GRCh37Chr 3, 169482847: 169482847
28TERCNR_001566.1(TERC): n.35C> Tsingle nucleotide variantPathogenicrs199422260GRCh37Chr 3, 169482814: 169482814
29TERCNR_001566.1(TERC): n.37A> Gsingle nucleotide variantPathogenicrs199422261GRCh37Chr 3, 169482812: 169482812
30TERCNR_001566.1(TERC): n.410C> Gsingle nucleotide variantPathogenicrs199422286GRCh37Chr 3, 169482439: 169482439
31TERCNR_001566.1(TERC): n.48A> Gsingle nucleotide variantPathogenicrs199422262GRCh37Chr 3, 169482801: 169482801
32TERCNR_001566.1(TERC): n.52_55delCTAAdeletionPathogenicrs199422263GRCh37Chr 3, 169482794: 169482797
33TERCNR_001566.1(TERC): n.53_87del35deletionPathogenicrs199422264GRCh37Chr 3, 169482762: 169482796
34TERCNR_001566.1(TERC): n.79delCdeletionPathogenicrs199422266GRCh37Chr 3, 169482770: 169482770
35TERCNR_001566.1(TERC): n.96_97delCTdeletionPathogenicrs199422267GRCh37Chr 3, 169482752: 169482753
36NR_001566.1(TERC): n.-2660_316del2976deletionPathogenicGRCh37Chr 3, 169482533: 169485508
37TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
38TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
39TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
40TERCNR_001566.1(TERC): n.374_1194del821deletionPathogenicGRCh37Chr 3, 169481655: 169482475
41TERCNR_001566.1(TERC): n.408C> Gsingle nucleotide variantPathogenicrs199422284GRCh37Chr 3, 169482441: 169482441
42TERCNR_001566.1(TERC): n.107_108delGCinsAGindelPathogenicrs199476393GRCh37Chr 3, 169482741: 169482742
43TERCNR_001566.1(TERC): n.204C> Gsingle nucleotide variantPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
44TERCNR_001566.1(TERC): n.116C> Tsingle nucleotide variantPathogenicrs199422272GRCh37Chr 3, 169482733: 169482733

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Dominant.

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Products for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet