DKC
MCID: DYS007
MIFTS: 64

Dyskeratosis Congenita (DKC) malady

Eye diseases, Blood diseases, Neuronal diseases, Bone diseases, Immune diseases categories

Summaries for Dyskeratosis Congenita

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Dyskeratosis Congenita, also known as revesz syndrome, is related to aplastic anemia and dyskeratosis congenita autosomal dominant, and has symptoms including prematurity, intrauterine growth retardation and platelets shape anomalies. 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 Telomere Extension By Telomerase. The compounds tin(2+) and uridine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin.

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

Description from OMIM:46 305000,268130

GeneReviews summary for dkc

Aliases & Classifications for Dyskeratosis Congenita

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 48Orphanet, 56SNOMED-CT, 34MeSH
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Classifications:



Aliases & Descriptions:

dyskeratosis congenita 8 19 42 20 22 21 10 44 60
revesz syndrome 19 42 20 22 46 60
hoyeraal-hreidarsson syndrome 42 22 44 60
hoyeraal hreidarsson syndrome 19 42
zinsser-cole-engman syndrome 19 21
growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia 42
retinopathy - anemia- central nervous system anomalies 48
exudative retinopathy with bone marrow failure 42
cerebellar hypoplasia with pancytopenia 42
zinsser-engman-cole syndrome 42
revesz-debuse syndrome 48
dkc 42


External Ids:

Disease Ontology8 DOID:2729
SNOMED-CT56 74911008
MeSH34 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 103)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia30.9TERT, TERC, DKC1
2dyskeratosis congenita autosomal dominant30.7TERC, TERT, TINF2, DKC1
3squamous cell carcinoma30.5MAGEA3, MAGEA1, MAGEA4, TERT, TERC
4pulmonary fibrosis30.5TERT, TERC
5dyskeratosis congenita x-linked10.5
6pancytopenia10.5
7retinitis10.5
8thymic dysplasia10.5
9dyskeratosis congenita, autosomal dominant 110.4
10dyskeratosis congenita, autosomal recessive 410.4
11dyskeratosis congenita, autosomal recessive 110.4
12fanconi's anemia10.4
13neutropenia10.4
14pneumonia10.4
15dyskeratosis congenita autosomal recessive10.4
16dyskeratosis congenita, autosomal recessive 210.4
17dyskeratosis congenita, autosomal dominant 310.4
18dyskeratosis congenita, autosomal recessive 310.4
19dyskeratosis congenita, autosomal recessive 510.4
20portal hypertension10.3
21hypertension10.3
22dystonic disease10.3
23severe combined immunodeficiency10.3
24dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.3
25graft versus host disease10.2
26limbal stem cell deficiency10.2
27fanconi syndrome10.2
28esophagitis10.2
29hepatitis10.2
30interstitial lung disease10.2
31pigmentation disease10.2
32thrombocytopenia10.2
33tert-related dyskeratosis congenita10.2
34dkc1-related dyskeratosis congenita10.2
35terc-related dyskeratosis congenita10.2
36tinf2-related dyskeratosis congenita10.2
37nop10-related dyskeratosis congenita10.2
38nhp2-related dyskeratosis congenita10.2
39wrap53-related dyskeratosis congenita10.2
40dyskeratosis congenita, autosomal dominant 210.2
41dyskeratosis congenita, autosomal dominant 410.2
42bronchiolitis obliterans10.1
43bronchiolitis10.1
44congenital dyserythropoietic anemia10.1
45rothmund-thomson syndrome10.1
46liver angiosarcoma10.1
47renal agenesis10.1
48common variable immunodeficiency10.1
49amenorrhea10.1
50ocular albinism10.1

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



Diseases related to dyskeratosis congenita

Clinical Features for Dyskeratosis Congenita

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46OMIM, 48Orphanet
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Clinical features from OMIM:

305000,268130

Clinical synopsis from OMIM:

268130

Symptoms:

48 (show all 15)
  • prematurity
  • intrauterine growth retardation
  • platelets shape anomalies
  • thrombocytopenia/thrombopenia
  • 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
  • microcephaly

Drugs & Therapeutics for Dyskeratosis Congenita

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Dyskeratosis Congenita

Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita

Search NIH Clinical Center for Dyskeratosis Congenita

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Dyskeratosis Congenita:

32
Bone, Bone marrow, Skin, Tongue, Eye, Cerebellum, 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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50PubMed
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Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects. (24197800)
2014
2
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. (23403051)
2013
3
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. (23732052)
2013
4
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. (23946118)
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
Marathon of eponyms: 26 Zinsser-Engman-Cole syndrome (Dyskeratosis congenita). (22672294)
2012
7
Dyskeratosis Congenita Dermal Fibroblasts are Defective in Supporting the Clonogenic Growth of Epidermal Keratinocytes. (23251848)
2012
8
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. (22078571)
2012
9
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. (22341970)
2012
10
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? (21252004)
2011
11
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita. (21176016)
2011
12
Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita. (21605101)
2011
13
A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization. (21921046)
2011
14
Dyskeratosis congenita: clinical report and review of the literature. (20096085)
2010
15
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. (19835419)
2009
16
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (19734544)
2009
17
Dyskeratosis congenita, a disease caused by defective telomere maintenance]. (18405638)
2008
18
Dyskeratosis congenita. (18371111)
2008
19
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (18669893)
2008
20
A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. (18057229)
2008
21
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (18523010)
2008
22
Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. (18310499)
2008
23
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita. (18302718)
2008
24
Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas. (17223904)
2007
25
Allogeneic stem cell transplantation in a patient with dyskeratosis congenita after conditioning with low-dose cyclophosphamide and anti-thymocyte globulin. (16317729)
2007
26
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. (16720563)
2006
27
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. (16332973)
2006
28
Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine: a case report. (15899147)
2005
29
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. (15349768)
2004
30
Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita. (12634734)
2003
31
Dyskeratosis congenita. (12737310)
2003
32
Dyskeratosis congenita associated with three malignancies. (12705757)
2003
33
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. (12400016)
2002
34
X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. (11641517)
2001
35
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. (11259155)
2001
36
Genetic analysis of a patient with dyskeratosis congenita]. (10921354)
2000
37
Dyskeratosis congenita, telomeres and human ageing. (10782108)
2000
38
Bone marrow transplant for dyskeratosis congenita. (10233444)
1999
39
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. (10556300)
1999
40
Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. (9753038)
1998
41
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. (9051251)
1997
42
Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. (9311754)
1997
43
Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin. (9163594)
1997
44
p53 expression in dyskeratosis congenita: a marker for oral premalignancy? (8459038)
1993
45
Dyskeratosis congenita or chronic graft-versus-host disease? A diagnostic dilemma in a child eight years after bone marrow transplantation for aplastic anemia. (8302741)
1993
46
Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. (1390173)
1992
47
Dyskeratosis congenita preceded by severe aplastic anemia: report of one case. (2637616)
1989
48
Thrombocytopenia: first symptom in a patient with dyskeratosis congenita. (6894487)
1981
49
Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. (602933)
1977
50
Dyskeratosis congenita; relationship to poikiloderma atrophicans vasculare and to aplastic anemia of Fanconi. (13478161)
1957

Genetic Variations for Dyskeratosis Congenita

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Dyskeratosis Congenita:

62
id Symbol AA change Variation ID SNP ID
1TINF2p.Arg282HisVAR_043915

Expression for genes affiliated with Dyskeratosis Congenita

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1BioGPS, 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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51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3TERT, TINF2
210.3TERT, DKC1
3
Hide members
10.2TERT, DKC1, TINF2
4
Hide members
10.2TERT, DKC1, TINF2
510.2TERT, DKC1, TINF2
610.2DKC1, NOP10, NHP2

Compounds for genes affiliated with Dyskeratosis Congenita

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tin(2+)4410.2TERC, TERT, TINF2
2uridine44 11 2412.2DKC1, NOP10, TERC
3pseudouridine44 2411.2NHP2, TERC, NOP10, DKC1
4lipofectamine4410.2TERC, TERT
5paraffin449.9TERC, TERT, MAGEA1, MAGEA3
6adpribose449.9TINF2, TERT, 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
1nuclear telomere cap complexGO:00078310.3TERT, TINF2
2telomerase holoenzyme complexGO:00569710.2TERT, DKC1, WRAP53
3Cajal bodyGO:01503010.0WRAP53, DKC1, NOP10, NHP2
4small nucleolar ribonucleoprotein complexGO:00573210.0NHP2, NOP10

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

idNameGO IDScoreTop Affiliating Genes
1pseudouridine synthesisGO:00152210.3NOP10, DKC1
2telomere formation via telomeraseGO:03220310.2WRAP53, TERT
3telomere maintenanceGO:00072310.1TERT, RTEL1, DKC1, TINF2
4telomere maintenance via telomeraseGO:00700410.0TERT, DKC1

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

idNameGO IDScoreTop Affiliating Genes
1snoRNA bindingGO:03051510.3NHP2, NOP10
2telomerase activityGO:00372010.2TERT, DKC1
3telomeric DNA bindingGO:04216210.0TERT, TINF2

Products for genes affiliated with Dyskeratosis Congenita

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  • Antibodies
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Sources for Dyskeratosis Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet