MCID: DYS040
MIFTS: 26

Dyskeratosis Congenita Autosomal Recessive

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 49
Dyskeratosis Congenita, Autosomal Recessive 69
Autosomal Recessive Dyskeratosis Congenita 49
Dkcb 49

Classifications:



External Ids:

UMLS 69 C3502105

Summaries for Dyskeratosis Congenita Autosomal Recessive

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Dyskeratosis congenita.

MalaCards based summary : Dyskeratosis Congenita Autosomal Recessive, also known as dyskeratosis congenita, autosomal recessive, is related to dyskeratosis congenita, autosomal recessive 1 and dyskeratosis congenita. 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

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

Articles related to Dyskeratosis Congenita Autosomal Recessive:

# Title Authors Year
1
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. ( 17785587 )
2007
2
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. ( 17507419 )
2007

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:

# 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)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.95 ACD NHP2 NOP10 RTEL1 TERT WRAP53
2 nucleolus GO:0005730 9.8 NHP2 NOP10 PARN TERT
3 intracellular ribonucleoprotein complex GO:0030529 9.71 NHP2 NOP10 TERT
4 nuclear body GO:0016604 9.69 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:

# Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.46 NHP2 NOP10
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.43 ACD PARN
3 telomere maintenance GO:0000723 9.43 ACD RTEL1 TERT
4 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.4 NHP2 NOP10
5 rRNA pseudouridine synthesis GO:0031118 9.37 NHP2 NOP10
6 positive regulation of telomerase activity GO:0051973 9.33 ACD PARN WRAP53
7 snRNA pseudouridine synthesis GO:0031120 9.32 NHP2 NOP10
8 establishment of protein localization to telomere GO:0070200 9.13 ACD TERT WRAP53
9 telomere maintenance via telomerase GO:0007004 8.92 NHP2 NOP10 TERT WRAP53

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.65 NHP2 NOP10 PARN TERT WRAP53
2 chaperone binding GO:0051087 9.37 TERT WRAP53
3 telomeric DNA binding GO:0042162 9.32 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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