DKCB
MCID: DYS040
MIFTS: 22

Dyskeratosis Congenita Autosomal Recessive (DKCB) malady

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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Aliases & Descriptions for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 48
Dyskeratosis Congenita, Autosomal Recessive 68
 
Autosomal Recessive Dyskeratosis Congenita 48
Dkcb 48

Classifications:



Summaries for Dyskeratosis Congenita Autosomal Recessive

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MalaCards based summary: Dyskeratosis Congenita Autosomal Recessive, also known as dyskeratosis congenita, autosomal recessive, is related to dyskeratosis congenita, autosomal recessive 2 and dyskeratosis congenita, autosomal recessive 1. An important gene associated with Dyskeratosis Congenita Autosomal Recessive is RTEL1 (Regulator Of Telomere Elongation Helicase 1), and among its related pathways are Regulation of Telomerase and Ribosome biogenesis in eukaryotes.

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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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 Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita, autosomal recessive 212.4
2dyskeratosis congenita, autosomal recessive 112.4
3dyskeratosis congenita, autosomal recessive 312.4
4dyskeratosis congenita, autosomal recessive 512.4
5dyskeratosis congenita, autosomal recessive 612.3
6dyskeratosis congenita, autosomal dominant 211.8
7dyskeratosis congenita, autosomal dominant 611.2
8rtel1-related dyskeratosis congenita11.0
9acd-related dyskeratosis congenita11.0
10parn-related dyskeratosis congenita11.0
11dyskeratosis congenita10.1
12early-onset anterior polar cataract9.9ACD, RTEL1, TERT
13mosaic variegated aneuploidy syndrome 19.8NHP2, NOP10, TERT
14aortic aneurysm, familial thoracic 69.7PARN, RTEL1, TERT
15renal tubular acidosis9.6PARN, RTEL1, TERT
16hyperparathyroidism, neonatal9.6NHP2, NOP10, RTEL1, TERT
17early-onset generalized dystonia9.0ACD, NHP2, NOP10, PARN, RTEL1, TERT
18skin atrophy8.9ACD, NHP2, NOP10, PARN, RTEL1, TERT

Graphical network of diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Recessive

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

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Publications for Dyskeratosis Congenita Autosomal Recessive

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Variations for Dyskeratosis Congenita Autosomal Recessive

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Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Recessive.

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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

idSuper pathwaysScoreTop Affiliating Genes
19.5ACD, TERT
29.3NHP2, NOP10
3
Show member pathways
9.1NHP2, TERT, WRAP53
48.9PARN, RTEL1, TERT
5
Show member pathways
8.6ACD, NHP2, TERT, WRAP53
6
Show member pathways
8.6ACD, NHP2, TERT, WRAP53

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Cellular components related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1nuclear telomere cap complexGO:000078310.4ACD, TERT
2box H/ACA scaRNP complexGO:007258910.2NHP2, NOP10
3box H/ACA snoRNP complexGO:003142910.2NHP2, NOP10
4box H/ACA telomerase RNP complexGO:009066110.2NHP2, NOP10
5chromosome, telomeric regionGO:000078110.0ACD, RTEL1, TERT
6nuclear chromosome, telomeric regionGO:00007849.8ACD, NHP2, TERT
7intracellular ribonucleoprotein complexGO:00305299.7NHP2, NOP10, TERT
8Cajal bodyGO:00150309.7NHP2, NOP10, WRAP53
9nuclear bodyGO:00166049.7ACD, NOP10, WRAP53
10small nucleolar ribonucleoprotein complexGO:00057329.7NHP2, NOP10
11nucleolusGO:00057308.9NHP2, NOP10, PARN, TERT
12telomerase holoenzyme complexGO:00056978.5NHP2, NOP10, TERT, WRAP53
13nucleoplasmGO:00056548.4ACD, NHP2, NOP10, RTEL1, TERT, WRAP53
14nucleusGO:00056347.1ACD, NHP2, NOP10, PARN, RTEL1, TERT

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of telomerase RNA localization to Cajal bodyGO:19048749.9NHP2, NOP10
2ribosome biogenesisGO:00422549.8NHP2, NOP10
3rRNA pseudouridine synthesisGO:00311189.8NHP2, NOP10
4snRNA pseudouridine synthesisGO:00311209.8NHP2, NOP10
5establishment of protein localization to telomereGO:00702009.7ACD, TERT, WRAP53
6telomere maintenanceGO:00007239.5ACD, RTEL1, TERT
7positive regulation of telomerase activityGO:00519739.3ACD, PARN, WRAP53
8positive regulation of telomere maintenance via telomeraseGO:00322129.2ACD, PARN, WRAP53
9telomere maintenance via telomeraseGO:00070047.9ACD, NHP2, NOP10, TERT, WRAP53

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

idNameGO IDScoreTop Affiliating Genes
1chaperone bindingGO:005108710.3TERT, WRAP53
2box H/ACA snoRNA bindingGO:003451310.1NHP2, NOP10
3snoRNA bindingGO:00305159.8NHP2, NOP10
4telomeric DNA bindingGO:00421629.5ACD, TERT
5RNA bindingGO:00037238.8NHP2, PARN, TERT, WRAP53
6telomerase RNA bindingGO:00700348.0NHP2, NOP10, PARN, TERT, WRAP53

Sources for Dyskeratosis Congenita Autosomal Recessive

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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