MCID: DYS039
MIFTS: 29

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 47
Dyskeratosis Congenita, Autosomal Dominant 49 67
Autosomal Dominant Dyskeratosis Congenita 47 26
 
Dyskeratosis Congenita Scoggins Type 47
Dkca 47

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 Cell Cycle, Mitotic. Related mouse phenotypes are neoplasm and cellular.

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 Parn-Related Dyskeratosis Congenita
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 27)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita, autosomal dominant 212.4
2dyskeratosis congenita, autosomal dominant 312.4
3dyskeratosis congenita, autosomal dominant 612.3
4dyskeratosis congenita, autosomal dominant 112.1
5dyskeratosis congenita, autosomal recessive 511.8
6revesz syndrome11.6
7rtel1-related dyskeratosis congenita11.0
8acd-related dyskeratosis congenita11.0
9dyskeratosis congenita10.4
10retinitis10.2
11secondary hyperparathyroidism of renal origin9.8DKC1, TERT
12genuine diffuse phlebectasia9.7TERC, TERT
13baraitser rodeck garner syndrome9.7DKC1, TERC
14ror2-related robinow syndrome9.7TERC, TERT
15tracheophageal fistula hypospadias9.7DKC1, TERC
16x-linked congenital generalized hypertrichosis9.6TERC, TERT
17ladd syndrome9.6TERC, TERT
18dubin-johnson syndrome9.5ACD, TERT
19recessive dystrophic epidermolysis bullosa-generalized other9.5ACD, RTEL1, TERT
20aplastic anemia9.5TERC, TERT, TINF2
21diamond-blackfan anemia 39.2RTEL1, TERC, TERT
22renal oncocytoma9.0RTEL1, TERC, TERT, TINF2
23levic stefanovic nikolic syndrome8.8ACD, DKC1, RTEL1, TERT, TINF2
24hypocalciuric hypercalcemia, type i8.6DKC1, RTEL1, TERC, TERT, TINF2
25convulsions benign familial neonatal dominant form8.5ACD, RTEL1, TERC, TERT, TINF2
26cerebellum agenesis hydrocephaly8.4ACD, DKC1, RTEL1, TERC, TERT
27vesiculobullous skin disease8.1ACD, DKC1, 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 Dominant26

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7ACD, DKC1, RTEL1, TERT
2MP:00053848.4ACD, DKC1, RTEL1, TERT, TINF2
3MP:00053788.3ACD, DKC1, RTEL1, TERT, TINF2
4MP:00028738.1DKC1, RTEL1, TERT, 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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)SNVPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
2TINF2NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)SNVPathogenicrs199422321GRCh37Chr 14, 24709980: 24709980
3TINF2NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)SNVPathogenicrs142777869GRCh37Chr 14, 24709952: 24709952
4TINF2NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)SNVPathogenicrs199422322GRCh37Chr 14, 24709845: 24709845
5TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)SNVPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
6TERCNR_001566.1(TERC): n.228G> ASNVPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
7TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)SNVPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
8TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)SNVPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
9TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)SNVPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
10TERCNR_001566.1(TERC): n.204C> GSNVPathogenicrs199422277GRCh37Chr 3, 169482645: 169482645
11TERCNR_001566.1(TERC): n.58G> ASNVPathogenicrs113487931GRCh37Chr 3, 169482791: 169482791
12TERCNR_001566.1(TERC): n.116C> TSNVPathogenicrs199422272GRCh37Chr 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
8.2ACD, DKC1, TERT, TINF2
3
Show member pathways
8.2ACD, DKC1, TERT, TINF2
48.2ACD, DKC1, 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:007018710.2ACD, TINF2
2chromosome, telomeric regionGO:00007819.8TERT, TINF2
3nuclear telomere cap complexGO:00007839.7ACD, TERT, TINF2
4telomerase holoenzyme complexGO:00056979.6DKC1, TERT
5nuclear chromosome, telomeric regionGO:00007849.4ACD, TERT, TINF2
6nucleoplasmGO:00056547.6ACD, DKC1, RTEL1, TERT, TINF2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1telomere assemblyGO:003220210.0ACD, TINF2
2telomere cappingGO:001623310.0ACD, TINF2
3negative regulation of telomere maintenance via telomeraseGO:003221110.0ACD, TINF2
4protein localization to chromosome, telomeric regionGO:00701989.9ACD, TINF2
5establishment of protein localization to telomereGO:00702009.8ACD, TERT
6positive regulation of telomere maintenanceGO:00322069.5RTEL1, TINF2
7positive regulation of telomerase activityGO:00519739.1ACD, DKC1
8positive regulation of telomere maintenance via telomeraseGO:00322129.0ACD, DKC1
9telomere maintenanceGO:00007238.8ACD, RTEL1, TERT
10telomere maintenance via telomeraseGO:00070048.3ACD, DKC1, TERT

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

idNameGO IDScoreTop Affiliating Genes
1telomerase RNA bindingGO:00700349.1DKC1, TERT
2telomeric DNA bindingGO:00421629.0ACD, TERT, TINF2
3telomerase activityGO:00037208.8DKC1, TERT

Sources for Dyskeratosis Congenita Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet