DKCB
MCID: DYS040
MIFTS: 27

Dyskeratosis Congenita Autosomal Recessive (DKCB)

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 53
Autosomal Recessive Dyskeratosis Congenita 53 6
Dyskeratosis Congenita, Autosomal Recessive 72
Dkcb 53

Classifications:



External Ids:

UMLS 72 C3502105

Summaries for Dyskeratosis Congenita Autosomal Recessive

MalaCards based summary : Dyskeratosis Congenita Autosomal Recessive, also known as autosomal recessive dyskeratosis congenita, is related to dyskeratosis congenita, autosomal recessive 5 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 Chromosome Maintenance and TGF-beta Signaling Pathway (WikiPathways).

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Recessive 1
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive

Diseases related to Dyskeratosis Congenita Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 5 34.8 TNFRSF6B RTEL1-TNFRSF6B RTEL1
2 dyskeratosis congenita, autosomal recessive 1 34.0 TERT NUTM1 NOP10 NHP2
3 dyskeratosis congenita, autosomal recessive 3 33.9 WRAP53 TP53 EFNB3
4 dyskeratosis congenita, autosomal dominant 6 32.2 PARD6A CARMIL2 ACD
5 dyskeratosis congenita 26.0 WRAP53 TP53 TNFRSF6B TERT RTEL1-TNFRSF6B RTEL1
6 dyskeratosis congenita, autosomal recessive 2 12.9
7 dyskeratosis congenita, autosomal recessive 6 12.8
8 dyskeratosis congenita, autosomal dominant 2 12.3
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.3 TNFRSF6B RTEL1-TNFRSF6B RTEL1
10 dyskeratosis congenita, x-linked 10.3 WRAP53 NOP10
11 pulmonary fibrosis 10.3 TERT RTEL1 PARN
12 revesz syndrome 10.2 TERT NOP10
13 urinary tract papillary transitional cell benign neoplasm 10.2 TP53 TERT
14 bladder papillary transitional cell neoplasm 10.1 TP53 TERT
15 hoyeraal hreidarsson syndrome 10.1
16 soft tissue sarcoma 10.0 TP53 TERT
17 pulmonary fibrosis, idiopathic 9.7 TERT RTEL1 PARN
18 melanoma, cutaneous malignant 1 9.7 TP53 TERT ACD
19 adamantinoma of long bones 9.6 WRAP53 TP53 TERT
20 aplastic anemia 9.4 TP53 TERT RTEL1 NOP10 NHP2
21 dyskeratosis congenita autosomal dominant 8.6 TERT RTEL1-TNFRSF6B RTEL1 PARD6A CARMIL2 ACD

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 PMID Year
1
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 38
18523010 2008
2
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 38
17785587 2007
3
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 38
17507419 2007
4
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita. 38
12634734 2003

Variations for Dyskeratosis Congenita Autosomal Recessive

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DCLRE1B NM_022836.4(DCLRE1B): c.892G> A (p.Val298Ile) single nucleotide variant Uncertain significance 1:114454106-114454106 1:113911484-113911484
2 DCLRE1B NM_022836.4(DCLRE1B): c.1461C> G (p.Ser487Arg) single nucleotide variant Uncertain significance 1:114454675-114454675 1:113912053-113912053
3 DCLRE1B NM_022836.4(DCLRE1B): c.136C> T (p.Arg46Trp) single nucleotide variant Uncertain significance 1:114448344-114448344 1:113905722-113905722
4 DCLRE1B NM_022836.4(DCLRE1B): c.1256A> G (p.Gln419Arg) single nucleotide variant Uncertain significance 1:114454470-114454470 1:113911848-113911848
5 DCLRE1B NM_022836.4(DCLRE1B): c.923A> G (p.Asp308Gly) single nucleotide variant Uncertain significance 1:114454137-114454137 1:113911515-113911515
6 DCLRE1B NM_022836.4(DCLRE1B): c.10G> A (p.Val4Ile) single nucleotide variant Uncertain significance 1:114448218-114448218 1:113905596-113905596
7 DCLRE1B NM_022836.4(DCLRE1B): c.137G> T (p.Arg46Leu) single nucleotide variant Uncertain significance 1:114448345-114448345 1:113905723-113905723
8 DCLRE1B NM_022836.4(DCLRE1B): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance 1:114449702-114449702 1:113907080-113907080
9 DCLRE1B NM_022836.4(DCLRE1B): c.946G> A (p.Val316Met) single nucleotide variant Uncertain significance 1:114454160-114454160 1:113911538-113911538
10 DCLRE1B NM_022836.4(DCLRE1B): c.950C> G (p.Pro317Arg) single nucleotide variant Uncertain significance 1:114454164-114454164 1:113911542-113911542
11 DCLRE1B NM_022836.4(DCLRE1B): c.1163A> G (p.Gln388Arg) single nucleotide variant Uncertain significance 1:114454377-114454377 1:113911755-113911755
12 DCLRE1B NM_022836.4(DCLRE1B): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance 1:114454397-114454397 1:113911775-113911775
13 DCLRE1B NM_022836.4(DCLRE1B): c.1253C> T (p.Ser418Phe) single nucleotide variant Uncertain significance 1:114454467-114454467 1:113911845-113911845
14 DCLRE1B NM_022836.4(DCLRE1B): c.78_80CTT[2] (p.Phe28del) short repeat Uncertain significance rs763030449 1:114448292-114448294 1:113905670-113905672
15 DCLRE1B NM_022836.4(DCLRE1B): c.218A> C (p.Glu73Ala) single nucleotide variant Uncertain significance rs770692934 1:114449646-114449646 1:113907024-113907024
16 DCLRE1B NM_022836.4(DCLRE1B): c.1149G> A (p.Ala383=) single nucleotide variant Uncertain significance rs759682384 1:114454363-114454363 1:113911741-113911741
17 DCLRE1B NM_022836.4(DCLRE1B): c.77T> G (p.Leu26Arg) single nucleotide variant Uncertain significance rs1553260999 1:114448285-114448285 1:113905663-113905663
18 DCLRE1B NM_022836.4(DCLRE1B): c.1456dup (p.Ser486fs) duplication Uncertain significance rs779442399 1:114454670-114454670 1:113912048-113912048
19 DCLRE1B NM_022836.4(DCLRE1B): c.847C> T (p.Arg283Cys) single nucleotide variant Likely benign rs145569979 1:114454061-114454061 1:113911439-113911439
20 DCLRE1B NM_022836.4(DCLRE1B): c.279C> T (p.Thr93=) single nucleotide variant Likely benign rs144640614 1:114449707-114449707 1:113907085-113907085
21 DCLRE1B NM_022836.4(DCLRE1B): c.1384G> A (p.Asp462Asn) single nucleotide variant Benign rs28381079 1:114454598-114454598 1:113911976-113911976
22 DCLRE1B NM_022836.4(DCLRE1B): c.1528A> T (p.Asn510Tyr) single nucleotide variant Benign rs35397235 1:114454742-114454742 1:113912120-113912120

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
11.79 WRAP53 TERT NHP2 ACD
2 11.46 TP53 TERT PARD6A
3 10.6 TERT RTEL1 PARN

GO Terms for Dyskeratosis Congenita Autosomal Recessive

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 9.76 WRAP53 TP53 NOP10 ACD
2 nuclear chromosome, telomeric region GO:0000784 9.67 TERT NHP2 ACD
3 Cajal body GO:0015030 9.54 WRAP53 NOP10 NHP2
4 small nucleolar ribonucleoprotein complex GO:0005732 9.43 NOP10 NHP2
5 nuclear telomere cap complex GO:0000783 9.4 TERT ACD
6 box H/ACA telomerase RNP complex GO:0090661 9.32 NOP10 NHP2
7 box H/ACA snoRNP complex GO:0031429 9.26 NOP10 NHP2
8 chromosome, telomeric region GO:0000781 9.26 WRAP53 TERT RTEL1 ACD
9 box H/ACA scaRNP complex GO:0072589 9.16 NOP10 NHP2
10 telomerase holoenzyme complex GO:0005697 8.92 WRAP53 TERT NOP10 NHP2
11 nucleus GO:0005634 10.26 WRAP53 TP53 TERT RTEL1-TNFRSF6B RTEL1 RMND5B

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.81 WRAP53 TP53 RTEL1-TNFRSF6B RTEL1
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.52 PARN ACD
3 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.49 TP53 TERT
4 regulation of double-strand break repair via homologous recombination GO:0010569 9.48 RTEL1-TNFRSF6B RTEL1
5 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.46 NOP10 NHP2
6 replicative senescence GO:0090399 9.43 TP53 TERT
7 establishment of protein localization to telomere GO:0070200 9.4 TERT ACD
8 positive regulation of telomerase activity GO:0051973 9.33 WRAP53 PARN ACD
9 snRNA pseudouridine synthesis GO:0031120 9.32 NOP10 NHP2
10 rRNA pseudouridine synthesis GO:0031118 9.26 NOP10 NHP2
11 telomere maintenance GO:0000723 9.26 TERT RTEL1-TNFRSF6B RTEL1 ACD
12 mitotic telomere maintenance via semi-conservative replication GO:1902990 9.07 RTEL1
13 telomere maintenance via telomerase GO:0007004 8.92 WRAP53 TERT NOP10 NHP2

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA helicase activity GO:0004003 9.43 RTEL1-TNFRSF6B RTEL1
2 chaperone binding GO:0051087 9.43 WRAP53 TP53 TERT
3 telomeric DNA binding GO:0042162 9.4 TERT ACD
4 DNA polymerase binding GO:0070182 9.37 RTEL1 ACD
5 ATP-dependent helicase activity GO:0008026 9.32 RTEL1-TNFRSF6B RTEL1
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.16 RTEL1-TNFRSF6B RTEL1
7 telomerase RNA binding GO:0070034 9.02 WRAP53 TERT PARN NOP10 NHP2
8 box H/ACA snoRNA binding GO:0034513 8.96 NOP10 NHP2

Sources for Dyskeratosis Congenita Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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