DKCA
MCID: DYS039
MIFTS: 34

Dyskeratosis Congenita Autosomal Dominant (DKCA) malady

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

Summaries for Dyskeratosis Congenita Autosomal Dominant

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MalaCards based summary: Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita and retinitis. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TINF2 (TERF1 (TRF1)-interacting nuclear factor 2), and among its related pathways are Packaging Of Telomere Ends and Regulation of Telomerase. The compounds lipofectamine and zidovudine have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and immune system.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

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Sources:
42NIH Rare Diseases, 23GTR, 44Novoseek, 61UMLS
See all sources

Dyskeratosis Congenita Autosomal Dominant, Aliases & Descriptions:

Name: Dyskeratosis Congenita Autosomal Dominant 42
Dyskeratosis Congenita, Autosomal Dominant 44 61
Autosomal Dominant Dyskeratosis Congenita 42 23
 
Dyskeratosis Congenita Scoggins Type 42
Dkca 42


Classifications:



Related Diseases for Dyskeratosis Congenita Autosomal Dominant

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Diseases in the Dyskeratosis Congenita family:

dyskeratosis congenita autosomal dominant Dyskeratosis Congenita Autosomal Recessive
Tert-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Terc-Related Dyskeratosis Congenita Tinf2-Related Dyskeratosis Congenita
Nop10-Related Dyskeratosis Congenita Nhp2-Related Dyskeratosis Congenita
Wrap53-Related Dyskeratosis Congenita Dyskeratosis Congenita, Autosomal Dominant 1
Dyskeratosis Congenita, Autosomal Recessive 4 Dyskeratosis Congenita, Autosomal Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Dominant 4

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita30.8TERT, TERC, TINF2
2retinitis10.6
3dyskeratosis congenita, autosomal dominant 110.5
4dyskeratosis congenita, autosomal dominant 210.5
5dyskeratosis congenita, autosomal dominant 310.5
6dyskeratosis congenita, autosomal dominant 410.5
7pulmonary fibrosis, familial10.0TERC, TERT
8gastritis10.0TERT, TERC
9cervical intraepithelial neoplasia10.0TERC, TERT
10teratoma10.0TERC, TERT
11aplastic anemia10.0TERT, TERC
12idiopathic pulmonary fibrosis10.0TERC, TERT
13oral cancer10.0TERT, TERC
14pulmonary fibrosis10.0TERC, TERT
15lung benign neoplasm10.0TERC, TERT
16malignant glioma10.0TERC, TERT
17endometrial carcinoma10.0TERC, TERT
18brain cancer10.0TERC, TERT
19acute leukemia10.0TERT, TERC
20cervical cancer9.9TERT, TERC
21bladder carcinoma9.9TERC, TERT
22lung cancer9.9TERC, TERT
23prostate cancer9.9TERC, TERT
24glioblastoma9.9TERT, TERC
25retinoblastoma9.8TERC, TERT
26stomach cancer9.8TERT, TINF2, TERC
27ovarian cancer9.8TERC, TERT

Graphical network of the top 20 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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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Dominant

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

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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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MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5TINF2, TERC, TERT
2MP:00053878.5TINF2, TERC, TERT
3MP:00053898.4TINF2, TERC, TERT
4MP:00053978.2TERT, TERC, TINF2

Publications for Dyskeratosis Congenita Autosomal Dominant

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Variations for Dyskeratosis Congenita Autosomal Dominant

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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

7 (show all 43)
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.2162C> G (p.Pro721Arg)single nucleotide variantPathogenicrs199422299GRCh37Chr 5, 1278880: 1278880
19TERTNM_198253.2(TERT): c.2177C> T (p.Thr726Met)single nucleotide variantPathogenicrs149566858GRCh37Chr 5, 1278865: 1278865
20TERTNM_198253.2(TERT): c.2935C> T (p.Arg979Trp)single nucleotide variantPathogenicrs199422305GRCh37Chr 5, 1260624: 1260624
21TERCNR_001566.1(TERC): n.-240_-239delCTdeletionPathogenicrs199422255GRCh37Chr 3, 169483087: 169483088
22TERCNR_001566.1(TERC): n.100T> Asingle nucleotide variantPathogenicrs199422269GRCh37Chr 3, 169482749: 169482749
23TERCNR_001566.1(TERC): n.143G> Asingle nucleotide variantPathogenicrs199422274GRCh37Chr 3, 169482706: 169482706
24TERCNR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGCdeletionPathogenicrs199422278GRCh37Chr 3, 169482620: 169482633
25TERCNR_001566.1(TERC): n.228G> Asingle nucleotide variantPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
26TERCNR_001566.1(TERC): n.2G> Csingle nucleotide variantPathogenicrs199422257GRCh37Chr 3, 169482847: 169482847
27TERCNR_001566.1(TERC): n.35C> Tsingle nucleotide variantPathogenicrs199422260GRCh37Chr 3, 169482814: 169482814
28TERCNR_001566.1(TERC): n.37A> Gsingle nucleotide variantPathogenicrs199422261GRCh37Chr 3, 169482812: 169482812
29TERCNR_001566.1(TERC): n.410C> Gsingle nucleotide variantPathogenicrs199422286GRCh37Chr 3, 169482439: 169482439
30TERCNR_001566.1(TERC): n.48A> Gsingle nucleotide variantPathogenicrs199422262GRCh37Chr 3, 169482801: 169482801
31TERCNR_001566.1(TERC): n.52_55delCTAAdeletionPathogenicrs199422263GRCh37Chr 3, 169482794: 169482797
32TERCNR_001566.1(TERC): n.53_87del35deletionPathogenicrs199422264GRCh37Chr 3, 169482762: 169482796
33TERCNR_001566.1(TERC): n.79delCdeletionPathogenicrs199422266GRCh37Chr 3, 169482770: 169482770
34TERCNR_001566.1(TERC): n.96_97delCTdeletionPathogenicrs199422267GRCh37Chr 3, 169482752: 169482753
35NR_001566.1(TERC): n.-2660_316del2976deletionPathogenicGRCh37Chr 3, 169482533: 169485508
36TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
37TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
38TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
39TERCNR_001566.1(TERC): n.374_1194del821deletionPathogenicGRCh37Chr 3, 169481655: 169482475
40TERCNR_001566.1(TERC): n.408C> Gsingle nucleotide variantPathogenicrs199422284GRCh37Chr 3, 169482441: 169482441
41TERCNR_001566.1(TERC): n.107_108delGCinsAGindelPathogenicrs199476393GRCh37Chr 3, 169482741: 169482742
42TERCNR_001566.1(TERC): n.204C> Gsingle nucleotide variantPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
43TERCNR_001566.1(TERC): n.116C> Tsingle nucleotide variantPathogenicrs199422272GRCh37Chr 3, 169482733: 169482733

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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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Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TINF2, TERT
29.3TINF2, TERT
3
Show member pathways
9.3TINF2, TERT

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Compounds related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lipofectamine449.3TERC, TERT
2zidovudine44 50 1211.3TERC, TERT
3adriamycin449.2TERT, TERC
45fluorouracil449.2TERC, TERT
5etoposide44 50 60 1212.1TERC, TERT
6paraffin449.1TERC, TERT
7butyrate449.0TERT, TERC
8doxorubicin44 50 1210.8TERC, TERT
9tin(2+)448.7TINF2, TERC, TERT
10adpribose448.7TERT, TERC, TINF2

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:0007819.3TINF2, TERT
2nuclear telomere cap complexGO:0007839.0TINF2, TERT

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere maintenanceGO:0007239.3TINF2, TERT

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:0421629.3TINF2, TERT

Products for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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  • Antibodies
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Sources for Dyskeratosis Congenita Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet