MCID: DYS039
MIFTS: 28

Dyskeratosis Congenita Autosomal Dominant malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Immune diseases

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

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Aliases & Descriptions for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant 46
Dyskeratosis Congenita, Autosomal Dominant 48 66
Autosomal Dominant Dyskeratosis Congenita 46 25
 
Dyskeratosis Congenita Scoggins Type 46
Dkca 46

Classifications:



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, autosomal dominant 2 and dyskeratosis congenita, autosomal dominant 3. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TINF2 (TERF1 Interacting Nuclear Factor 2), and among its related pathways are Immune response IL-2 activation and signaling pathway and Meiosis. Related mouse phenotype neoplasm.

Related Diseases for Dyskeratosis Congenita Autosomal Dominant

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Diseases in the Dyskeratosis Congenita family:

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 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 dyskeratosis congenita autosomal dominant
Dyskeratosis Congenita Autosomal Recessive Rtel1-Related Dyskeratosis Congenita
Acd-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Nhp2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Terc-Related Dyskeratosis Congenita Tert-Related Dyskeratosis Congenita
Tinf2-Related Dyskeratosis Congenita Wrap53-Related Dyskeratosis Congenita

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

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita, autosomal dominant 212.4
2dyskeratosis congenita, autosomal dominant 312.4
3dyskeratosis congenita, autosomal dominant 612.4
4dyskeratosis congenita, autosomal dominant 112.2
5dyskeratosis congenita, autosomal recessive 511.7
6revesz syndrome11.5
7rtel1-related dyskeratosis congenita11.2
8acd-related dyskeratosis congenita11.2
9dyskeratosis congenita10.5
10retinitis10.3
11genuine diffuse phlebectasia9.9TERC, TERT
12ror2-related robinow syndrome9.9TERC, TERT
13ladd syndrome9.8TERC, TERT
14x-linked congenital generalized hypertrichosis9.7TERC, TERT
15aplastic anemia9.6TERC, TERT, TINF2
16dubin-johnson syndrome9.2ACD, TERT
17diamond-blackfan anemia 39.2RTEL1, TERC, TERT
18recessive dystrophic epidermolysis bullosa-generalized other9.1ACD, RTEL1, TERT
19renal oncocytoma9.0RTEL1, TERC, TERT, TINF2
20hypocalciuric hypercalcemia, type i8.9RTEL1, TERC, TERT, TINF2
21levic stefanovic nikolic syndrome8.7ACD, RTEL1, TERT, TINF2
22cerebellum agenesis hydrocephaly8.7ACD, RTEL1, TERC, TERT
23convulsions benign familial neonatal dominant form8.2ACD, RTEL1, TERC, TERT, TINF2
24vesiculobullous skin disease8.2ACD, RTEL1, TERC, TERT, TINF2

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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Interventional clinical trials:

Search ClinicalTrials, 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 Dominant25

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6ACD, RTEL1, TERT

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)single nucleotide variantPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
2TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)single nucleotide variantPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
3TERCNR_001566.1(TERC): n.228G> Asingle nucleotide variantPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
4TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
5TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
6TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
7TERCNR_001566.1(TERC): n.204C> Gsingle nucleotide variantPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
8TERCNR_001566.1(TERC): n.58G> Asingle nucleotide variantPathogenicrs113487931GRCh37Chr 3, 169482791: 169482791
9TERCNR_001566.1(TERC): n.116C> Tsingle nucleotide variantPathogenicrs199422272GRCh37Chr 3, 169482733: 169482733

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Dominant

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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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Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5TERT, TINF2
2
Show member pathways
9.5ACD, TINF2
3
Show member pathways
9.0ACD, TERT, TINF2
49.0ACD, TERT, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1telosomeGO:00701879.9ACD, TINF2
2chromosome, telomeric regionGO:00007819.5TERT, TINF2
3nuclear telomere cap complexGO:00007839.4ACD, TERT, TINF2
4nuclear chromosome, telomeric regionGO:00007848.9ACD, TERT, TINF2

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1telomere assemblyGO:00322029.9ACD, TINF2
2telomere cappingGO:00162339.9ACD, TINF2
3negative regulation of telomere maintenance via telomeraseGO:00322119.9ACD, TINF2
4protein localization to chromosome, telomeric regionGO:00701989.7ACD, TINF2
5establishment of protein localization to telomereGO:00702009.6ACD, TERT
6telomere maintenance via telomeraseGO:00070049.3ACD, TERT
7positive regulation of telomere maintenanceGO:00322069.2RTEL1, TINF2
8telomere maintenanceGO:00007238.3ACD, RTEL1, TERT

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:00421629.0ACD, TERT, TINF2

Sources for Dyskeratosis Congenita Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet