DKCB
MCID: DYS040
MIFTS: 28

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 52
Autosomal Recessive Dyskeratosis Congenita 52 6
Dyskeratosis Congenita, Autosomal Recessive 71
Dkcb 52

Classifications:



External Ids:

UMLS 71 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 3 and dyskeratosis congenita, autosomal recessive 2. 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 Lung fibrosis. Affiliated tissues include bone, bone marrow and liver.

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 30)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 3 34.4 WRAP53 TP53
2 dyskeratosis congenita, autosomal recessive 2 34.1 RMND5B NHP2
3 dyskeratosis congenita, autosomal recessive 1 33.3 TERT RMND5B NOP10 NHP2
4 hoyeraal hreidarsson syndrome 29.7 TERT RTEL1 PARN ACD
5 dyskeratosis congenita 25.6 WRAP53 TP53 TNFRSF6B TERT RTEL1-TNFRSF6B RTEL1
6 dyskeratosis congenita, autosomal recessive 6 12.8
7 dyskeratosis congenita, autosomal recessive 5 12.7
8 dyskeratosis congenita, autosomal dominant 2 11.8
9 dyskeratosis congenita, autosomal dominant 6 11.8
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.3 RTEL1-TNFRSF6B RTEL1
11 pulmonary fibrosis 10.1 TERT RTEL1 PARN
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.1 TERT RTEL1-TNFRSF6B RTEL1
13 urinary tract papillary transitional cell benign neoplasm 10.0 TP53 TERT
14 bladder papillary transitional cell neoplasm 10.0 TP53 TERT
15 granulosa cell tumor of the ovary 9.9 TP53 TERT
16 liver benign neoplasm 9.9 TP53 TERT
17 fibrillary astrocytoma 9.9 TP53 TERT
18 retinal telangiectasia 9.8 WRAP53 NOP10 NHP2
19 dyskeratosis congenita, x-linked 9.8 TERT NOP10 NHP2
20 li-fraumeni syndrome 9.8 WRAP53 TP53 TERT
21 dyskeratosis congenita autosomal dominant 9.7 TERT RTEL1-TNFRSF6B RTEL1 ACD
22 coats disease 9.6 WRAP53 RTEL1 NOP10 NHP2
23 thyroid tumor 9.6 TP53 TERT
24 bladder urothelial carcinoma 9.5 TP53 TNFRSF6B TERT
25 melanoma, cutaneous malignant 1 9.5 TP53 TERT RTEL1 ACD
26 revesz syndrome 9.4 WRAP53 TERT RTEL1 NOP10 NHP2
27 myelodysplastic syndrome 9.4 TP53 TERT RTEL1 PARN
28 osteoporosis 8.9 WRAP53 TP53 TERT RTEL1 NOP10 NHP2
29 pulmonary fibrosis, idiopathic 8.8 WRAP53 TP53 TERT RTEL1 PARN NOP10
30 aplastic anemia 8.4 WRAP53 TP53 TERT RTEL1 PARN NOP10

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

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Recessive:

40
Bone, Bone Marrow, Liver, Eye, Thyroid, Skin, Ovary

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. 61
18523010 2008
2
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 61
17785587 2007
3
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 61
17507419 2007
4
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita. 61
12634734 2003

Variations for Dyskeratosis Congenita Autosomal Recessive

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DCLRE1B NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg)SNV Uncertain significance 465151 rs1553260999 1:114448285-114448285 1:113905663-113905663
2 DCLRE1B NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)duplication Uncertain significance 533711 rs779442399 1:114454669-114454670 1:113912047-113912048
3 DCLRE1B NM_022836.4(DCLRE1B):c.78_80CTT[2] (p.Phe28del)short repeat Uncertain significance 533708 rs763030449 1:114448285-114448287 1:113905663-113905665
4 DCLRE1B NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)SNV Uncertain significance 533709 rs770692934 1:114449646-114449646 1:113907024-113907024
5 DCLRE1B NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=)SNV Uncertain significance 533710 rs759682384 1:114454363-114454363 1:113911741-113911741
6 DCLRE1B NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)SNV Uncertain significance 577822 rs921843370 1:114454106-114454106 1:113911484-113911484
7 DCLRE1B NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg)SNV Uncertain significance 581202 rs1558110707 1:114454675-114454675 1:113912053-113912053
8 DCLRE1B NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)SNV Uncertain significance 581038 rs774397708 1:114448344-114448344 1:113905722-113905722
9 DCLRE1B NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)SNV Uncertain significance 579256 rs764178255 1:114454470-114454470 1:113911848-113911848
10 DCLRE1B NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly)SNV Uncertain significance 581525 rs1199130382 1:114454137-114454137 1:113911515-113911515
11 DCLRE1B NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile)SNV Uncertain significance 570621 rs1437958560 1:114448218-114448218 1:113905596-113905596
12 DCLRE1B NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)SNV Uncertain significance 569061 rs28381069 1:114448345-114448345 1:113905723-113905723
13 DCLRE1B NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)SNV Uncertain significance 652350 1:114449702-114449702 1:113907080-113907080
14 DCLRE1B NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)SNV Uncertain significance 644470 1:114454160-114454160 1:113911538-113911538
15 DCLRE1B NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)SNV Uncertain significance 640833 1:114454164-114454164 1:113911542-113911542
16 DCLRE1B NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)SNV Uncertain significance 663606 1:114454377-114454377 1:113911755-113911755
17 DCLRE1B NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)SNV Uncertain significance 648890 1:114454397-114454397 1:113911775-113911775
18 DCLRE1B NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)SNV Uncertain significance 640672 1:114454467-114454467 1:113911845-113911845

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 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 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.21 WRAP53 TP53 TERT RTEL1-TNFRSF6B RTEL1 RMND5B
2 nucleolus GO:0005730 9.89 TP53 TERT PARN NOP10 NHP2
3 nuclear body GO:0016604 9.76 WRAP53 TP53 NOP10 ACD
4 nuclear chromosome, telomeric region GO:0000784 9.65 TERT NHP2 ACD
5 Cajal body GO:0015030 9.54 WRAP53 NOP10 NHP2
6 small nucleolar ribonucleoprotein complex GO:0005732 9.43 NOP10 NHP2
7 nuclear telomere cap complex GO:0000783 9.4 TERT ACD
8 box H/ACA telomerase RNP complex GO:0090661 9.32 NOP10 NHP2
9 box H/ACA snoRNP complex GO:0031429 9.26 NOP10 NHP2
10 chromosome, telomeric region GO:0000781 9.26 WRAP53 TERT RTEL1 ACD
11 box H/ACA scaRNP complex GO:0072589 9.16 NOP10 NHP2
12 telomerase holoenzyme complex GO:0005697 8.92 WRAP53 TERT NOP10 NHP2

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 9.78 WRAP53 TP53 RTEL1-TNFRSF6B RTEL1
2 gastrulation GO:0007369 9.52 TP53 ARFRP1
3 positive regulation of telomere maintenance via telomerase GO:0032212 9.51 PARN ACD
4 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.49 TP53 TERT
5 regulation of double-strand break repair via homologous recombination GO:0010569 9.46 RTEL1-TNFRSF6B RTEL1
6 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.43 NOP10 NHP2
7 replicative senescence GO:0090399 9.4 TP53 TERT
8 establishment of protein localization to telomere GO:0070200 9.37 TERT ACD
9 positive regulation of telomerase activity GO:0051973 9.33 WRAP53 PARN ACD
10 rRNA pseudouridine synthesis GO:0031118 9.32 NOP10 NHP2
11 snRNA pseudouridine synthesis GO:0031120 9.26 NOP10 NHP2
12 telomere maintenance GO:0000723 9.26 TERT RTEL1-TNFRSF6B RTEL1 ACD
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 4 iron, 4 sulfur cluster binding GO:0051539 9.4 RTEL1-TNFRSF6B RTEL1
2 telomeric DNA binding GO:0042162 9.37 TERT ACD
3 chaperone binding GO:0051087 9.33 WRAP53 TP53 TERT
4 DNA polymerase binding GO:0070182 9.32 RTEL1 ACD
5 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.26 RTEL1-TNFRSF6B RTEL1
6 telomerase RNA binding GO:0070034 9.02 WRAP53 TERT PARN NOP10 NHP2
7 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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