DKC
MCID: DYS007
MIFTS: 65

Dyskeratosis Congenita (DKC) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Blood diseases, Skin diseases, Bone diseases, Immune diseases categories
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Summaries for Dyskeratosis Congenita

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Dyskeratosis congenita is a disorder that may affect many parts of the body. three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and (3) white patches inside the mouth (oral leukoplakia). people with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. the severity of dyskeratosis congenita varies widely among affected individuals. in about half of people, this condition is caused by mutations the dkc1, terc, tert, and tinf2 genes. dyskeratosis congenita can have different inheritance patterns. last updated: 1/20/2012

MalaCards: Dyskeratosis Congenita, also known as revesz syndrome, is related to aplastic anemia and dyskeratosis congenita autosomal dominant, and has symptoms including prematurity, platelets shape anomalies and polynuclear cells/neutrophils anomalies/neutropenia. An important gene associated with Dyskeratosis Congenita is TINF2 (TERF1 (TRF1)-interacting nuclear factor 2), and among its related pathways are Telomere Extension By Telomerase and Regulation of Telomerase. The compounds zidovudine and lipofectamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are growth/size/body and cellular.

Genetics Home Reference:21 Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).

Wikipedia:65 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...

Description from OMIM:47 305000,268130

GeneReviews summary for dkc

Aliases & Classifications for Dyskeratosis Congenita

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 49Orphanet, 58SNOMED-CT, 35MeSH
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Classifications:



Characteristics (Orphanet epidemiological data):

49
retinopathy - anemia- central nervous system anomalies:
Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

dyskeratosis congenita 8 19 43 20 22 21 10 45 62
revesz syndrome 19 43 20 22 47 62
hoyeraal-hreidarsson syndrome 43 22 45 62
hoyeraal hreidarsson syndrome 19 43
zinsser-cole-engman syndrome 19 21
growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia 43
retinopathy - anemia- central nervous system anomalies 49
exudative retinopathy with bone marrow failure 43
cerebellar hypoplasia with pancytopenia 43
zinsser-engman-cole syndrome 43
revesz-debuse syndrome 49
dkc 43


External Ids:

Disease Ontology8 DOID:2729
SNOMED-CT58 74911008
MeSH35 D019871

Related Diseases for Dyskeratosis Congenita

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17GeneCards, 18GeneDecks
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Diseases in the Dyskeratosis Congenita family:

Tert-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Terc-Related Dyskeratosis Congenita Tinf2-Related Dyskeratosis Congenita
Nop10-Related Dyskeratosis Congenita Nhp2-Related Dyskeratosis Congenita
Wrap53-Related Dyskeratosis Congenita

Diseases related to Dyskeratosis Congenita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia31.0TERT, TERC, DKC1
2dyskeratosis congenita autosomal dominant30.9DKC1, TERC, TERT
3leukoplakia30.7TERC, DKC1
4fanconi's anemia30.7TERC, DKC1
5pulmonary fibrosis30.5TERC, TERT
6dyskeratosis congenita x-linked10.6
7pancytopenia10.6
8retinitis10.5
9hematopoietic stem cell transplantation10.5
10thymic dysplasia10.5
11dyskeratosis congenita, autosomal dominant 110.5
12dyskeratosis congenita, autosomal recessive 410.5
13dyskeratosis congenita, autosomal recessive 110.5
14neutropenia10.4
15pneumonia10.4
16dyskeratosis congenita autosomal recessive10.4
17dyskeratosis congenita, autosomal recessive 210.4
18dyskeratosis congenita, autosomal dominant 310.4
19dyskeratosis congenita, autosomal recessive 310.4
20dyskeratosis congenita, autosomal recessive 510.4
21severe combined immunodeficiency10.4
22dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.4
23portal hypertension10.4
24hypertension10.4
25graft versus host disease10.3
26limbal stem cell deficiency10.3
27esophagitis10.3
28hepatitis10.3
29interstitial lung disease10.3
30chronic graft versus host disease10.3
31inherited bone marrow failure syndromes10.3
32myelodysplastic syndromes10.3
33usual interstitial pneumonia10.3
34tert-related dyskeratosis congenita10.3
35dkc1-related dyskeratosis congenita10.3
36terc-related dyskeratosis congenita10.3
37tinf2-related dyskeratosis congenita10.3
38nop10-related dyskeratosis congenita10.3
39nhp2-related dyskeratosis congenita10.3
40wrap53-related dyskeratosis congenita10.3
41dyskeratosis congenita, autosomal dominant 210.3
42dyskeratosis congenita, autosomal dominant 410.3
43rothmund-thomson syndrome10.1
44congenital dyserythropoietic anemia10.1
45bronchiolitis10.1
46bronchiolitis obliterans10.1
47pharyngitis10.1
48hepatopulmonary syndrome10.1
49oral squamous cell carcinoma10.1
50choanal atresia10.1

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



Diseases related to dyskeratosis congenita

Symptoms for Dyskeratosis Congenita

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

268130

Clinical features from OMIM:

305000,268130

Symptoms:

49 (show all 15)
  • prematurity
  • platelets shape anomalies
  • polynuclear cells/neutrophils anomalies/neutropenia
  • fine hair
  • microcephaly
  • nails anomalies
  • anaemia
  • anomalies of tongue, gingiva and oral mucosa
  • thrombocytopenia/thrombopenia
  • purpura/petichiae
  • retinal vascular anomalies/retinal telangiectasia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • intrauterine growth retardation
  • retinal detachment
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia

Drugs & Therapeutics for Dyskeratosis Congenita

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita

Search NIH Clinical Center for Dyskeratosis Congenita

Genetic Tests for Dyskeratosis Congenita

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20GeneTests, 22GTR
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Genetic tests related to Dyskeratosis Congenita:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita20 22 WRAP53
2 Revesz Syndrome20 22 TINF2
3 Dyskeratosis Congenita Multi-Gene Panels20
4 Hoyeraal Hreidarsson Syndrome22

Anatomical Context for Dyskeratosis Congenita

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33MalaCards
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MalaCards organs/tissues related to Dyskeratosis Congenita:

33
Bone, Bone marrow, Skin, Tongue, Cerebellum, Eye, Lung, T cells, Kidney, Liver

Animal Models for Dyskeratosis Congenita or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dyskeratosis Congenita:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.4DKC1, TINF2, RTEL1, TERC, TERT
2MP:00053848.1TERT, TERC, RTEL1, TINF2, DKC1
3MP:00107687.5DKC1, TINF2, RTEL1, NHP2, TERC, TERT

Publications for Dyskeratosis Congenita

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52PubMed
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Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 385)
idTitleAuthorsYear
1
Dyskeratosis congenita: a report of two cases. (23984114)
2013
2
Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. (24072216)
2013
3
Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. (23242325)
2013
4
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation. (24115260)
2013
5
A reduced intensity conditioning regimen of fludarabine, cyclophosphamide, antithymocyte globulin, plus 2 Gy TBI facilitates successful hematopoietic cell engraftment in an adult with dyskeratosis congenita. (22246089)
2012
6
Dyskeratosis congenita as a disorder of telomere maintenance. (21745483)
2012
7
The relationship between DNA methylation and telomere length in dyskeratosis congenita. (21981348)
2012
8
Marathon of eponyms: 26 Zinsser-Engman-Cole syndrome (Dyskeratosis congenita). (22672294)
2012
9
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita. (22932806)
2012
10
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? (22458992)
2012
11
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita. (22117216)
2011
12
A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex. (20979174)
2010
13
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
14
Dyskeratosis congenita: clinical report and review of the literature. (20096085)
2010
15
Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report. (19830116)
2009
16
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)
2009
17
Dyskeratosis congenita, a disease caused by defective telomere maintenance]. (18405638)
2008
18
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (18042801)
2008
19
POT of gold: modeling dyskeratosis congenita in the mouse. (18593874)
2008
20
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)
2007
21
Dyskeratosis congenita: its connections with oral and maxillofacial surgery. (16024141)
2007
22
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (17507419)
2007
23
Dysfunctional telomeres and dyskeratosis congenita. (17650438)
2007
24
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. (17381549)
2007
25
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (16690864)
2006
26
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. (16720563)
2006
27
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (15842668)
2005
28
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (15613268)
2004
29
Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. (12525685)
2003
30
YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. (14624001)
2003
31
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217)
2003
32
Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. (12137939)
2002
33
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (10438713)
1999
34
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (10364516)
1999
35
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (9590285)
1998
36
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (9042917)
1997
37
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. (9051251)
1997
38
Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)
1994
39
Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. (8178832)
1994
40
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. (1361371)
1992
41
Bone marrow transplantation for dyskeratosis congenita. (1643034)
1992
42
Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. (2166977)
1990
43
Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. (2483541)
1989
44
Fanconi anemia, dyskeratosis congenita, and WT syndrome. (2453204)
1987
45
Assignment of the gene for dyskeratosis congenita to Xq28. (3009302)
1986
46
Dyskeratosis congenita with pancytopenia and horseshoe kidney. (6710212)
1984
47
Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. (602933)
1977
48
Dyskeratosis congenita. (4106452)
1971
49
FANCONI'S ANAEMIA AND DYSKERATOSIS CONGENITA AS A SYNDROME. (14063154)
1963
50
Dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris; a follow-up report of two brothers. (13544605)
1958

Variations for Dyskeratosis Congenita

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita:

64
id Symbol AA change Variation ID SNP ID
1TINF2p.Arg282HisVAR_043915

Clinvar genetic disease variations for Dyskeratosis Congenita:

1
id Gene Name Type Significance SNP ID Assembly Location
1DKC1NM_001363.4(DKC1): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs121912304GRCh37Chr X, 153993780: 153993780
2DKC1NM_001363.4(DKC1): c.361A> G (p.Ser121Gly)single nucleotide variantPathogenicrs121912305GRCh37Chr X, 153994588: 153994588
3TINF2TINF2, 1-BP DEL, 839AdeletionPathogenic
4TINF2NM_001099274.1(TINF2): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs121918544GRCh37Chr 14, 24709841: 24709841

Expression for genes affiliated with Dyskeratosis Congenita

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita

Search GEO for disease gene expression data for Dyskeratosis Congenita.

Pathways for genes affiliated with Dyskeratosis Congenita

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50PathCards, 55Reactome, 53QIAGEN, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 12EMD Millipore
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Pathways related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TINF2, TERT
29.3DKC1, TINF2, TERT
38.7NHP2, DKC1, NOP10
4
Show member pathways
8.4DKC1, WRAP53, NHP2, TERT
5
Show member pathways
8.1TERT, NHP2, WRAP53, TINF2, DKC1
6
Show member pathways
8.1TERT, NHP2, WRAP53, TINF2, DKC1

Compounds for genes affiliated with Dyskeratosis Congenita

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zidovudine45 51 1111.5TERC, TERT
2lipofectamine459.4TERT, TERC
3rrna459.3DKC1, TERC
4tin(2+)459.3TINF2, TERC, TERT
5adpribose459.2TINF2, TERC, TERT
6uridine45 24 1111.1TERC, DKC1, NOP10
7pseudouridine45 249.4NOP10, DKC1, NHP2, TERC

GO Terms for genes affiliated with Dyskeratosis Congenita

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16Gene Ontology
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Cellular components related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:0007819.6TINF2, TERT
2nuclear telomere cap complexGO:0007839.5TERT, TINF2
3telomerase holoenzyme complexGO:0056979.3TERT, WRAP53, DKC1
4small nucleolar ribonucleoprotein complexGO:0057329.0NOP10, NHP2
5Cajal bodyGO:0150308.4NOP10, DKC1, WRAP53, NHP2
6nucleolusGO:0057307.5NOP10, DKC1, WRAP53, NHP2, TERT

Biological processes related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere formation via telomeraseGO:0322039.6WRAP53, TERT
2telomere maintenance via telomeraseGO:0070049.5TERT, DKC1
3rRNA processingGO:0063649.5NOP10, DKC1
4pseudouridine synthesisGO:0015229.2NOP10, DKC1
5telomere maintenanceGO:0007238.9DKC1, TINF2, RTEL1, TERT

Molecular functions related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:0037209.5DKC1, TERT
2telomeric DNA bindingGO:0421629.3TINF2, TERT
3snoRNA bindingGO:0305159.0NOP10, NHP2

Products for genes affiliated with Dyskeratosis Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet