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, polynuclear cells/neutrophils anomalies/neutropenia 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, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 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
  • polynuclear cells/neutrophils anomalies/neutropenia
  • platelets shape anomalies
  • 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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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, Cerebellum, Eye, Lung, T cells, Liver, Kidney

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
Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. (24072216)
2013
2
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. (23782086)
2013
3
Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus. (23558727)
2013
4
Haematological recovery in dyskeratosis congenita patients treated with danazol. (23782100)
2013
5
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita. (22932806)
2012
6
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. (21415081)
2011
7
Dyskeratosis congenita with malignant transformation. (22715219)
2011
8
Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene. (21736606)
2011
9
The p53/p21(WAF/CIP) pathway mediates oxidative stress and senescence in dyskeratosis congenita cells with telomerase insufficiency. (21087144)
2011
10
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. (20383216)
2011
11
A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. (21601430)
2011
12
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. (19760774)
2010
13
Dyskeratosis congenita, stem cells and telomeres. (19419704)
2009
14
Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan. (17724438)
2007
15
Dyskeratosis congenita. (16140563)
2006
16
Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance. (15974869)
2005
17
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (15613268)
2004
18
Telomerase dysfunction and dyskeratosis congenita. (19003239)
2004
19
Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome. (15172647)
2004
20
Dyskeratosis congenita and telomerase. (14758110)
2004
21
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. (12522253)
2003
22
Dyskeratosis congenita with esophageal and anal stricture. (12839609)
2003
23
Stem cells, telomerase and dyskeratosis congenita. (12539238)
2003
24
Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment. (12010344)
2002
25
Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (10903840)
2000
26
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (10438713)
1999
27
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (9590285)
1998
28
Dyskeratosis congenita: a light microscopic and ultrastructural study. (9683877)
1998
29
Dyskeratosis congenita associated with Hodgkin's disease. (9729062)
1998
30
Dyskeratosis congenita. (9126597)
1997
31
Dyskeratosis congenita: unusual onset with isolated neutropenia at an early age. (8741326)
1996
32
Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report. (7527662)
1994
33
Dyskeratosis Congenita (20301779)
1993
34
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. (8105085)
1993
35
Dyskeratosis congenita: a case report. (8482753)
1993
36
Dyskeratosis congenita and nasopharyngeal atresia. (1479281)
1992
37
Cytokeratin profiles in dyskeratosis congenita: an immunocytochemical investigation of lingual hyperkeratosis. (1383502)
1992
38
Oral-dental findings in dyskeratosis congenita. (1501159)
1992
39
Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. (2166977)
1990
40
Granulocytic macrophage colony stimulating factor restores in vitro growth of granulocyte-macrophage bone marrow hematopoietic progenitors in dyskeratosis congenita. (2651350)
1989
41
Dyskeratosis congenita: report of a case and review of the literature. (3287258)
1988
42
Marrow transplantation for pancytopenia in dyskeratosis congenita. (3893572)
1985
43
The role of aminocaproic acid in lacrimal surgery in dyskeratosis congenita. (4061556)
1985
44
Dyskeratosis congenita with macular cutaneous amyloid deposits. (6486855)
1984
45
Ocular findings in dyskeratosis congenita. (7139097)
1982
46
Dyskeratosis congenita: radiologic features. (6174925)
1982
47
Two cases of dyskeratosis congenita presenting with aplastic anemia. (7183854)
1982
48
Dyskeratosis congenita with associated periodontal disease. (4524381)
1974
49
DYSKERATOSIS CONGENITA. A CASE WITH NEW FEATURES. (14096348)
1964
50
Dyskeratosis congenita with pigmentation, dystrophia unguium, and leucokeratosis oris; review of the known cases reported to date and discussion of the disease from various aspects. (14360753)
1955

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 2412.2TERC, NOP10, DKC1
3pseudouridine44 2411.2NHP2, TERC, NOP10, DKC1
4lipofectamine4410.2TERC, TERT
5paraffin449.9MAGEA3, MAGEA1, TERT, TERC
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
  • Proteins
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  • Antibodies

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