DKCB
MCID: DYS040
MIFTS: 22

Dyskeratosis Congenita Autosomal Recessive (DKCB) malady

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

Aliases & Descriptions for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 50
Dyskeratosis Congenita, Autosomal Recessive 69
Autosomal Recessive Dyskeratosis Congenita 50
Dkcb 50

Classifications:



Summaries for Dyskeratosis Congenita Autosomal Recessive

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/superpathways are Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis.

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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)
id Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 2 12.4
2 dyskeratosis congenita, autosomal recessive 1 12.4
3 dyskeratosis congenita, autosomal recessive 3 12.4
4 dyskeratosis congenita, autosomal recessive 5 12.4
5 dyskeratosis congenita, autosomal recessive 6 12.3
6 dyskeratosis congenita, autosomal dominant 2 11.8
7 dyskeratosis congenita, autosomal dominant 6 11.2
8 rtel1-related dyskeratosis congenita 11.0
9 acd-related dyskeratosis congenita 11.0
10 parn-related dyskeratosis congenita 11.0
11 dyskeratosis congenita 10.1
12 early-onset anterior polar cataract 9.9 ACD RTEL1 TERT
13 mosaic variegated aneuploidy syndrome 1 9.8 NHP2 NOP10 TERT
14 aortic aneurysm, familial thoracic 6 9.7 PARN RTEL1 TERT
15 renal tubular acidosis 9.6 PARN RTEL1 TERT
16 hyperparathyroidism, neonatal 9.6 NHP2 NOP10 RTEL1 TERT
17 early-onset generalized dystonia 9.0 ACD NHP2 NOP10 PARN RTEL1 TERT
18 skin atrophy 8.9 ACD NHP2 NOP10 PARN RTEL1 TERT

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



Diseases related to Dyskeratosis Congenita Autosomal Recessive

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Recessive

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

Publications for Dyskeratosis Congenita Autosomal Recessive

Variations for Dyskeratosis Congenita Autosomal Recessive

Expression for Dyskeratosis Congenita Autosomal Recessive

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

Pathways for Dyskeratosis Congenita Autosomal Recessive

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 ACD NHP2 TERT WRAP53
2
Show member pathways
12.24 NHP2 TERT WRAP53
3
Show member pathways
11.79 ACD NHP2 TERT WRAP53
4 11.28 NHP2 NOP10
5 10.98 ACD TERT
6 10.6 PARN RTEL1 TERT

GO Terms for Dyskeratosis Congenita Autosomal Recessive

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.95 ACD NHP2 NOP10 RTEL1 TERT WRAP53
2 nucleolus GO:0005730 9.81 NHP2 NOP10 PARN TERT
3 intracellular ribonucleoprotein complex GO:0030529 9.71 NHP2 NOP10 TERT
4 nuclear body GO:0016604 9.67 ACD NOP10 WRAP53
5 nuclear chromosome, telomeric region GO:0000784 9.63 ACD NHP2 TERT
6 nuclear telomere cap complex GO:0000783 9.43 ACD TERT
7 small nucleolar ribonucleoprotein complex GO:0005732 9.4 NHP2 NOP10
8 box H/ACA snoRNP complex GO:0031429 9.37 NHP2 NOP10
9 chromosome, telomeric region GO:0000781 9.33 ACD RTEL1 TERT
10 box H/ACA scaRNP complex GO:0072589 9.32 NHP2 NOP10
11 box H/ACA telomerase RNP complex GO:0090661 9.26 NHP2 NOP10
12 Cajal body GO:0015030 9.13 NHP2 NOP10 WRAP53
13 telomerase holoenzyme complex GO:0005697 8.92 NHP2 NOP10 TERT WRAP53
14 nucleus GO:0005634 10.07 ACD NHP2 NOP10 PARN RTEL1 TERT

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

id Name GO ID Score Top Affiliating Genes
1 telomere maintenance GO:0000723 9.5 ACD RTEL1 TERT
2 ribosome biogenesis GO:0042254 9.46 NHP2 NOP10
3 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.43 NHP2 NOP10
4 positive regulation of telomere maintenance via telomerase GO:0032212 9.43 ACD PARN WRAP53
5 rRNA pseudouridine synthesis GO:0031118 9.4 NHP2 NOP10
6 snRNA pseudouridine synthesis GO:0031120 9.37 NHP2 NOP10
7 positive regulation of telomerase activity GO:0051973 9.33 ACD PARN WRAP53
8 establishment of protein localization to telomere GO:0070200 9.13 ACD TERT WRAP53
9 telomere maintenance via telomerase GO:0007004 9.02 ACD NHP2 NOP10 TERT WRAP53

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

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.67 NHP2 PARN TERT WRAP53
2 chaperone binding GO:0051087 9.32 TERT WRAP53
3 telomeric DNA binding GO:0042162 9.26 ACD TERT
4 snoRNA binding GO:0030515 9.16 NHP2 NOP10
5 telomerase RNA binding GO:0070034 9.02 NHP2 NOP10 PARN TERT WRAP53
6 box H/ACA snoRNA binding GO:0034513 8.96 NHP2 NOP10

Sources for Dyskeratosis Congenita Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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