DKCA
MCID: DYS039
MIFTS: 29

Dyskeratosis Congenita Autosomal Dominant (DKCA) 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 48
Dyskeratosis Congenita, Autosomal Dominant 50 68
Autosomal Dominant Dyskeratosis Congenita 48 27
 
Dyskeratosis Congenita Scoggins Type 48
Dkca 48

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 TERT (Telomerase Reverse Transcriptase), and among its related pathways are Telomere Extension by Telomerase and Lung fibrosis. 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 Rtel1-Related Dyskeratosis Congenita
Acd-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Nhp2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Parn-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 36)
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
11intellectual disability - hypoplastic corpus callosum - preauricular tag10.1TERC, TERT
12scn9a-related inherited erythromelalgia10.1TERC, TERT
13tooth agenesis, selective, 310.1DKC1, TINF2
14charcot-marie-tooth disease type 2n10.1TERC, TERT
15congenital muscular dystrophy type 1a10.0DKC1, TERC
16transitional cell cancer of the renal pelvis and ureter10.0DKC1, TERC
17hypocalciuric hypercalcemia, type i10.0TERC, TERT, TINF2
18early-onset generalized dystonia10.0ACD, RTEL1, TERT
19renal tubular acidosis10.0RTEL1, TERC, TERT
20thrombocytopenia, congenital amegakaryocytic10.0MPL, THPO
21aortic aneurysm, familial thoracic 69.9RTEL1, TERC, TERT
22mental depression9.9MPL, THPO
23severe nonproliferative diabetic retinopathy9.9MPL, THPO
24gluten allergy9.9MPL, THPO
25immunodeficiency 209.9MPL, THPO
26ocular hyperemia9.9MPL, THPO
27granulomatous hepatitis9.8MPL, THPO
28myeloproliferative neoplasm9.8MPL, THPO
29ectodermal dysplasia, ectrodactyly, and macular dystrophy9.8ACD, MPL, THPO
30leukemia, acute myeloid9.8MPL, TERT, THPO
31haemonchiasis9.7MPL, THPO
32cranioectodermal dysplasia 19.7MPL, TERT, THPO
33blood coagulation disease9.6DKC1, MPL, TERT, THPO
34skin atrophy9.1ACD, DKC1, MPL, RTEL1, TERC, TERT
35hyperparathyroidism, neonatal9.1DKC1, MPL, RTEL1, TERC, TERT, THPO
36early-onset anterior polar cataract8.9ACD, DKC1, MPL, RTEL1, TERC, TERT

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



Diseases related to dyskeratosis congenita autosomal dominant

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

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MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5ACD, DKC1, RTEL1, TERT
2MP:00053848.0ACD, DKC1, MPL, RTEL1, TERT, TINF2

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 Dominant27

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

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Publications for Dyskeratosis Congenita Autosomal Dominant

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Variations for Dyskeratosis Congenita Autosomal Dominant

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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
9.7TERT, TINF2
29.7RTEL1, TERT
3
Show member pathways
8.6ACD, DKC1, TERT, TINF2
48.6ACD, 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
1telomerase holoenzyme complexGO:00056979.8DKC1, TERT
2chromosomeGO:00056949.7ACD, TERT, TINF2
3nuclear chromosome, telomeric regionGO:00007849.5ACD, TERT, TINF2
4nuclear telomere cap complexGO:00007839.5ACD, TERT, TINF2
5telosomeGO:00701879.4ACD, TINF2
6chromosome, telomeric regionGO:00007819.2ACD, RTEL1, TERT, TINF2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of telomere maintenanceGO:003220610.2RTEL1, TINF2
2establishment of protein localization to telomereGO:007020010.1ACD, TERT
3negative regulation of telomere maintenance via telomeraseGO:003221110.0ACD, TINF2
4protein localization to chromosome, telomeric regionGO:007019810.0ACD, TINF2
5telomere assemblyGO:003220210.0ACD, TINF2
6telomere cappingGO:00162339.9ACD, TINF2
7positive regulation of telomerase activityGO:00519739.9ACD, DKC1
8positive regulation of telomere maintenance via telomeraseGO:00322129.9ACD, DKC1
9telomere maintenanceGO:00007239.4ACD, RTEL1, TERT
10cell proliferationGO:00082839.2DKC1, MPL, THPO
11thrombopoietin-mediated signaling pathwayGO:00381639.1MPL, THPO
12telomere maintenance via telomeraseGO:00070049.0ACD, DKC1, TERT

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

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:000372010.1DKC1, TERT
2telomerase RNA bindingGO:007003410.0DKC1, TERT
3telomeric DNA bindingGO:00421629.1ACD, TERT, TINF2

Sources for Dyskeratosis Congenita Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet