DKC
MCID: DYS007
MIFTS: 65

Dyskeratosis Congenita (DKC) malady

Genetic diseases, Rare diseases, Eye diseases, Blood diseases, Skin diseases, Neuronal diseases, Bone diseases, Immune diseases, Fetal diseases, Cancer diseases categories

Summaries for Dyskeratosis Congenita

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NIH Rare Diseases:42 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 based summary: Dyskeratosis Congenita, also known as revesz syndrome, is related to aplastic anemia and leukoplakia, and has symptoms including Arrayand Array. 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 rrna and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow.

Genetics Home Reference:22 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:64 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...

Descriptions from OMIM:46 305000,268130

GeneReviews summary for dkc

Aliases & Classifications for Dyskeratosis Congenita

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Dyskeratosis Congenita, Aliases & Descriptions:

Name: Dyskeratosis Congenita 9 20 42 21 23 22 11 44 61
Revesz Syndrome 20 42 21 23 46 48 61
Hoyeraal-Hreidarsson Syndrome 42 23 44 61
Zinsser-Cole-Engman Syndrome 20 22 61
Exudative Retinopathy with Bone Marrow Failure 42 61
Cerebellar Hypoplasia with Pancytopenia 42 61
Hoyeraal Hreidarsson Syndrome 20 42
 
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 42
Retinopathy-Anemia-Central Nervous System Anomalies Syndrome 48
Dyskeratosis Congenita with Bilateral Exudative Retinopathy 48
Zinsser-Engman-Cole Syndrome 42
Revesz-Debuse Syndrome 48
Dkc 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
revesz syndrome:
Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:2729
MeSH34 D019871
SNOMED-CT56 74911008

Related Diseases for Dyskeratosis Congenita

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Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita Autosomal Dominant Dyskeratosis Congenita Autosomal Recessive
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 Dyskeratosis Congenita, Autosomal Dominant 1
Dyskeratosis Congenita, Autosomal Recessive 4 Dyskeratosis Congenita, Autosomal Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Dominant 4

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia31.2DKC1, TERT, TERC
2leukoplakia31.1DKC1, TERC
3dyskeratosis congenita autosomal dominant31.1DKC1, TERC, TERT
4fanconi's anemia30.9DKC1, TERC
5hematopoietic stem cell transplantation10.6
6pancytopenia10.6
7dyskeratosis congenita x-linked10.6
8retinitis10.5
9dyskeratosis congenita, autosomal recessive 410.5
10thymic dysplasia10.5
11dyskeratosis congenita autosomal recessive10.5
12dyskeratosis congenita, autosomal dominant 110.5
13pseudo-torch syndrome10.5DKC1
14pneumonia10.4
15dyskeratosis congenita, autosomal recessive 210.4
16dyskeratosis congenita, autosomal dominant 310.4
17dyskeratosis congenita, autosomal recessive 110.4
18dyskeratosis congenita, autosomal recessive 310.4
19dyskeratosis congenita, autosomal recessive 510.4
20severe combined immunodeficiency10.4
21hypertension10.4
22neutropenia10.4
23pulmonary fibrosis10.4
24portal hypertension10.4
25graft versus host disease10.3
26hepatitis10.3
27limbal stem cell deficiency10.3
28myelodysplastic syndromes10.3
29thrombocytopenia10.3
30esophagitis10.3
31interstitial lung disease10.3
32chronic graft versus host disease10.3
33inherited bone marrow failure syndromes10.3
34usual interstitial pneumonia10.3
35tert-related dyskeratosis congenita10.3
36dkc1-related dyskeratosis congenita10.3
37terc-related dyskeratosis congenita10.3
38tinf2-related dyskeratosis congenita10.3
39nop10-related dyskeratosis congenita10.3
40nhp2-related dyskeratosis congenita10.3
41wrap53-related dyskeratosis congenita10.3
42dyskeratosis congenita, autosomal dominant 210.3
43dyskeratosis congenita, autosomal dominant 410.3
44pulmonary fibrosis, familial10.3TERC, TERT
45gastritis10.2TERC, TERT
46cervical intraepithelial neoplasia10.2TERC, TERT
47teratoma10.2TERT, TERC
48melanoma10.2TERC, TERT
49oral cancer10.2TERT, TERC
50bronchiolitis obliterans10.1

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



Diseases related to dyskeratosis congenita

Symptoms for Dyskeratosis Congenita

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Symptoms by clinical synopsis from OMIM:

268130

Clinical features from OMIM:

305000,268130

Symptoms:

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

HPO human phenotypes related to Dyskeratosis Congenita:

(show all 37)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 microcephaly hallmark (90%) HP:0000252
3 retinal detachment hallmark (90%) HP:0000541
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 abnormality of the nail hallmark (90%) HP:0001597
6 premature birth hallmark (90%) HP:0001622
7 thrombocytopenia hallmark (90%) HP:0001873
8 abnormality of neutrophils hallmark (90%) HP:0001874
9 anemia hallmark (90%) HP:0001903
10 subcutaneous hemorrhage hallmark (90%) HP:0001933
11 fine hair hallmark (90%) HP:0002213
12 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
13 abnormality of the retinal vasculature hallmark (90%) HP:0008046
14 abnormal hair quantity hallmark (90%) HP:0011362
15 autosomal dominant inheritance HP:0000006
16 megalocornea HP:0000485
17 leukocoria HP:0000555
18 nystagmus HP:0000639
19 ataxia HP:0001251
20 global developmental delay HP:0001263
21 hypertonia HP:0001276
22 cerebellar hypoplasia HP:0001321
23 intrauterine growth retardation HP:0001511
24 nail pits HP:0001803
25 aplastic anemia HP:0001915
26 abnormality of metabolism/homeostasis HP:0001939
27 fine hair HP:0002213
28 progressive neurologic deterioration HP:0002344
29 cerebral calcification HP:0002514
30 oral leukoplakia HP:0002745
31 sporadic HP:0003745
32 bone marrow hypocellularity HP:0005528
33 fine, reticulate skin pigmentation HP:0007617
34 exudative retinopathy HP:0007898
35 sparse hair HP:0008070
36 ridged fingernail HP:0008402
37 nail dystrophy HP:0008404

Drugs & Therapeutics for Dyskeratosis Congenita

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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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Genetic tests related to Dyskeratosis Congenita:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita21 23 WRAP53
2 Revesz Syndrome21 23 TINF2
3 Dyskeratosis Congenita Multi-Gene Panels21
4 Hoyeraal Hreidarsson Syndrome23

Anatomical Context for Dyskeratosis Congenita

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MalaCards organs/tissues related to Dyskeratosis Congenita:

32
Bone, Skin, Bone marrow, Tongue, Eye, Cerebellum, Neutrophil, Lung, T cells, Kidney, Liver

Animal Models for Dyskeratosis Congenita or affiliated genes

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Publications for Dyskeratosis Congenita

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Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 400)
idTitleAuthorsYear
1
Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy. (25067791)
2014
2
Successful T-cell Depleted Haploidentical Hematopoietic Stem Cell Transplantation in a Child With Dyskeratosis Congenita After a Fludarabine-based Conditioning Regimen. (25374286)
2014
3
Dyskeratosis congenita: a report of two cases. (23984114)
2013
4
Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. (24072216)
2013
5
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. (23403051)
2013
6
Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. (23242325)
2013
7
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
8
Dyskeratosis congenita as a disorder of telomere maintenance. (21745483)
2012
9
The relationship between DNA methylation and telomere length in dyskeratosis congenita. (21981348)
2012
10
Marathon of eponyms: 26 Zinsser-Engman-Cole syndrome (Dyskeratosis congenita). (22672294)
2012
11
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita. (22932806)
2012
12
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? (22458992)
2012
13
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita. (22117216)
2011
14
A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex. (20979174)
2010
15
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
16
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. (19879169)
2010
17
Dyskeratosis congenita: clinical report and review of the literature. (20096085)
2010
18
Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report. (19830116)
2009
19
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)
2009
20
Dyskeratosis congenita, a disease caused by defective telomere maintenance]. (18405638)
2008
21
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (18042801)
2008
22
POT of gold: modeling dyskeratosis congenita in the mouse. (18593874)
2008
23
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)
2007
24
Dyskeratosis congenita: its connections with oral and maxillofacial surgery. (16024141)
2007
25
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (17507419)
2007
26
Dysfunctional telomeres and dyskeratosis congenita. (17650438)
2007
27
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. (17381549)
2007
28
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (16690864)
2006
29
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. (16720563)
2006
30
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (15842668)
2005
31
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (15613268)
2004
32
Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. (12525685)
2003
33
YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. (14624001)
2003
34
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
35
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (10438713)
1999
36
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (10364516)
1999
37
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (9590285)
1998
38
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (9042917)
1997
39
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. (9051251)
1997
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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UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita:

63
id Symbol AA change Variation ID SNP ID
1TINF2p.Arg282HisVAR_043915

Clinvar genetic disease variations for Dyskeratosis Congenita:

7
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
3DKC1NM_001363.4(DKC1): c.113T> C (p.Ile38Thr)single nucleotide variantPathogenicGRCh37Chr X, 153993747: 153993747
4TINF2TINF2, 1-BP DEL, 839AdeletionPathogenic
5TINF2NM_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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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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Pathways related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8TERT, TINF2
29.5TERT, TINF2, DKC1
39.2NOP10, DKC1, NHP2
4
Show member pathways
8.9DKC1, WRAP53, NHP2, TERT
5
Show member pathways
8.6TERT, NHP2, WRAP53, TINF2, DKC1
6
Show member pathways
8.6TERT, NHP2, WRAP53, TINF2, DKC1

Compounds for genes affiliated with Dyskeratosis Congenita

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Sources:
44Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna449.8TERC, DKC1
2tin(2+)449.5TERT, TINF2, TERC
3lipofectamine449.4TERT, TERC
4uridine44 25 1211.3DKC1, TERC, NOP10
5adpribose449.3TINF2, TERT, TERC
6pseudouridine44 259.9NOP10, DKC1, TERC, NHP2

GO Terms for genes affiliated with Dyskeratosis Congenita

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Cellular components related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:0007819.8TERT, TINF2
2nuclear telomere cap complexGO:0007839.7TERT, TINF2
3telomerase holoenzyme complexGO:0056979.5TERT, WRAP53, DKC1
4small nucleolar ribonucleoprotein complexGO:0057329.5NHP2, NOP10
5Cajal bodyGO:0150309.0NHP2, WRAP53, NOP10, DKC1
6nucleolusGO:0057308.2TERT, NHP2, WRAP53, DKC1, NOP10

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

idNameGO IDScoreTop Affiliating Genes
1pseudouridine synthesisGO:0015229.7NOP10, DKC1
2telomere formation via telomeraseGO:0322039.6WRAP53, TERT
3telomere maintenance via telomeraseGO:0070049.5DKC1, TERT
4telomere maintenanceGO:0007239.1DKC1, TINF2, RTEL1, TERT

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

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:0037209.7DKC1, TERT
2snoRNA bindingGO:0305159.5NOP10, NHP2
3telomeric DNA bindingGO:0421629.5TINF2, TERT

Products for genes affiliated with Dyskeratosis Congenita

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  • Antibodies
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Sources for Dyskeratosis Congenita

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet