DKCA
MCID: DYS039
MIFTS: 28

Dyskeratosis Congenita Autosomal Dominant (DKCA) malady

Summaries for Dyskeratosis Congenita Autosomal Dominant

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33MalaCards
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MalaCards: Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita and deficiency anemia. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TINF2 (TERF1 (TRF1)-interacting nuclear factor 2), and among its related pathways are Telomere Extension By Telomerase and Lagging Strand Synthesis. The compounds pseudouridine and rrna have been mentioned in the context of this disorder. Related mouse phenotype tumorigenesis.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

Sources:
43NIH Rare Diseases, 22GTR, 45Novoseek, 61UMLS
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Aliases & Descriptions:

dyskeratosis congenita autosomal dominant 43
dyskeratosis congenita, autosomal dominant 45 61
autosomal dominant dyskeratosis congenita 43 22
dyskeratosis congenita scoggins type 43
dkca 43


Related Diseases for Dyskeratosis Congenita Autosomal Dominant

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17GeneCards, 18GeneDecks
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Diseases in the dyskeratosis congenita, autosomal recessive 4 family:

dyskeratosis congenita autosomal dominant dyskeratosis congenita autosomal recessive
dyskeratosis congenita, autosomal dominant 1 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 24)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita36.0TERC, DKC1
2deficiency anemia13.3TERC
3idiopathic pulmonary fibrosis13.3TERT, TERC
4pseudo-torch syndrome13.3DKC1
5aplastic anemia13.3TERC, TERT, DKC1
6cervical cancer13.3TERT, TERC
7endometrial carcinoma13.3TERT, TERC
8gastritis13.3TERC, TERT
9leukemia13.3TERT, TERC
10lung benign neoplasm13.3TERC, TERT
11malignant glioma13.3TERT, TERC
12prostate cancer13.3TERC, TERT
13pulmonary fibrosis13.3TERT, TERC
14stomach cancer13.3TINF2, TERT, TERC
15pulmonary fibrosis, familial13.3TERT, TERC
16ependymoma13.3TERC
17cerebellar hypoplasia13.3DKC1
18cervical intraepithelial neoplasia13.3TERT, TERC
19leukoplakia13.3DKC1, TERC
20teratoma13.3TERC, TERT
21dyskeratosis congenita, autosomal dominant 110.4
22dyskeratosis congenita, autosomal dominant 210.4
23dyskeratosis congenita, autosomal dominant 310.4
24dyskeratosis congenita, autosomal dominant 410.4

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Dominant:



Diseases related to dyskeratosis congenita autosomal dominant

Clinical Features for Dyskeratosis Congenita Autosomal Dominant

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Dyskeratosis Congenita Autosomal Dominant

Drug clinical trials:

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Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

Search CenterWatch for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

Sources:
22GTR
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Genetic tests related to Dyskeratosis Congenita Autosomal Dominant:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita Autosomal Dominant22

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

Animal Models for Dyskeratosis Congenita Autosomal Dominant or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.0TERT

Publications for Dyskeratosis Congenita Autosomal Dominant

Sources:
51PubMed
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Articles related to Dyskeratosis Congenita Autosomal Dominant:

idTitleAuthorsYear
1
Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita. (23661544)
2013
2
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation. (23094712)
2012
3
Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. (19852575)
2009
4
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. (18460650)
2008
5
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. (15238429)
2005
6
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. (16247010)
2005
7
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. (11574891)
2001
8
Dyskeratosis congenita: an autosomal dominant disorder. (7096665)
1982

Genetic Variations for Dyskeratosis Congenita Autosomal Dominant

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database
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Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TERT
2
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10.0TERT
3
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9.1TINF2, TERT
49.1TERT, TINF2
5
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9.1TERT, TINF2
69.1TINF2, TERT
7
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9.1TINF2, TERT
89.1TERT, TINF2

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pseudouridine45 2411.5
2rrna4510.5
3uridine45 11 2412.4
4lipofectamine4510.1TERT
5adriamycin4510.0TERT
6zidovudine45 1110.7TERT
7tin(2+)459.3TERT, TINF2
8adpribose459.3TERT, TINF2

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

Sources:
16Gene Ontology
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Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomerase holoenzyme complexGO:00569710.0TERT
2nucleoplasmGO:0056549.1TERT, TINF2
3nuclear telomere cap complexGO:0007839.0TERT, TINF2
4chromosome, telomeric regionGO:0007818.8TERT, TINF2

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

idNameGO IDScoreTop Affiliating Genes
1telomere maintenance via telomeraseGO:00700410.0TERT
2telomere maintenanceGO:0007238.8TERT, TINF2

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

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:0037209.7TERT
2telomeric DNA bindingGO:0421629.1TERT, TINF2

Products for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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Sources for Dyskeratosis Congenita Autosomal Dominant

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