DKC
MCID: DYS007
MIFTS: 58

Dyskeratosis Congenita (DKC) malady

Eye, Blood, Neuronal, Bone, Immune categories

Summaries for Dyskeratosis Congenita

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 dyskeratosis congenita autosomal dominant and aplastic anemia, and has symptoms including microcephaly, retinal detachment and retinal vascular anomalies/retinal telangiectasia. 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 marrow, kidney and liver.

Genetics Home Reference:21 Dyskeratosis congenita is a disorder that may affect many parts of the body. There are three features that are especially characteristic of this disorder. Affected individuals often have fingernails and toenails that grow poorly or are abnormally shaped. They also often have changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy." White patches inside the mouth (oral leukoplakia) constitute the third characteristic feature of dyskeratosis congenita.

Wikipedia:64 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

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Blood, Neuronal, Bone, Immune


Aliases & Descriptions:

dyskeratosis congenita 8 19 43 20 22 21 10 45 61
revesz syndrome 19 43 20 22 47 61
hoyeraal-hreidarsson syndrome 43 22 21 45 61
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-CT57 74911008
MeSH35 D019871

Related Diseases for Dyskeratosis Congenita

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita autosomal dominant31.0TINF2, DKC1, TERT, TERC
2aplastic anemia30.9TERC, TERT, DKC1
3leukoplakia30.6TERC, DKC1
4squamous cell carcinoma30.6MAGEA3, MAGEA1, MAGEA4, TERT, TERC
5dyskeratosis congenita x-linked10.6
6dyskeratosis congenita autosomal recessive10.6
7pancytopenia10.5
8thymic dysplasia10.5
9dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.5
10fanconi's anemia10.5
11dyskeratosis congenita, autosomal dominant 110.5
12dyskeratosis congenita, autosomal recessive 410.5
13dyskeratosis congenita, autosomal recessive 110.5
14hematopoietic stem cell transplantation10.5
15dyskeratosis congenita, autosomal recessive 210.4
16dyskeratosis congenita, autosomal dominant 310.4
17dyskeratosis congenita, autosomal recessive 310.4
18dyskeratosis congenita, autosomal recessive 510.4
19fanconi syndrome10.3
20portal hypertension10.3
21n syndrome10.3
22dkc1-related dyskeratosis congenita10.3
23tinf2-related dyskeratosis congenita10.3
24graft versus host disease10.3
25limbal stem cell deficiency10.3
26thrombocytopenia10.3
27short syndrome10.3
28chronic graft versus host disease10.3
29usual interstitial pneumonia10.3
30tert-related dyskeratosis congenita10.3
31terc-related dyskeratosis congenita10.3
32nop10-related dyskeratosis congenita10.3
33nhp2-related dyskeratosis congenita10.3
34wrap53-related dyskeratosis congenita10.3
35dyskeratosis congenita, autosomal dominant 210.3
36dyskeratosis congenita, autosomal dominant 410.3
37squamous cell papilloma10.1
38bronchiolitis obliterans10.1
39bronchiolitis10.1
40congenital dyserythropoietic anemia10.1
41rothmund-thomson syndrome10.1
42liver angiosarcoma10.1
43renal agenesis10.1
44common variable immunodeficiency10.1
45amenorrhea10.1
46ocular albinism10.1
47hepatopulmonary syndrome10.1
48microcephaly10.1
49emery-dreifuss muscular dystrophy10.1
50autoimmune hemolytic anemia10.1

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



Diseases related to dyskeratosis congenita

Clinical Features for Dyskeratosis Congenita

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

305000,268130

Clinical synopsis from OMIM:

268130

Symptoms:

49 (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

Drugs & Therapeutics for Dyskeratosis Congenita

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Dyskeratosis Congenita:

33
Bone marrow, Kidney, Liver, Lung, Skin, T cells, Tongue, Fetal liver, Fetal lung

Animal Models for Dyskeratosis Congenita or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Dyskeratosis Congenita

Sources:
51PubMed
See all sources

Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 396)
idTitleAuthorsYear
1
Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post-hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation. (24168326)
2014
2
DNA damage responses and oxidative stress in dyskeratosis congenita. (24124565)
2013
3
Telomere dysfunction and tumor suppression responses in dyskeratosis congenita: balancing cancer and tissue renewal impairment. (23541441)
2013
4
Dyskeratosis congenita as a disorder of telomere maintenance. (21745483)
2012
5
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. (22058220)
2012
6
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation. (23094712)
2012
7
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. (21536674)
2011
8
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience. (21284747)
2011
9
The genetics of dyskeratosis congenita. (22285015)
2011
10
Dyskeratosis congenita with portal hypertension of unknown etiology. (21755768)
2011
11
Dyskeratosis congenita and limbal stem cell deficiency. (20036237)
2010
12
Dyskeratosis congenita. (20687509)
2010
13
Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (19095616)
2009
14
Dyskeratosis congenita: a case report. (19615640)
2009
15
Retinal hemorrhages in a patient with dyskeratosis congenita. (18455938)
2008
16
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)
2007
17
The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. (17206847)
2007
18
Scytalidium infection associated with dyskeratosis congenita. (17300269)
2007
19
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure. (17317590)
2007
20
Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction. (16918603)
2006
21
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. (17015423)
2006
22
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (15842668)
2005
23
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. (15238429)
2005
24
Dynamic behavior of the telomerase RNA hairpin structure and its relationship to dyskeratosis congenita. (15808851)
2005
25
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. (15098033)
2004
26
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217)
2003
27
Missense mutation in a patient with X-linked dyskeratosis congenita. (12681984)
2003
28
Oral carcinoma in a young man: a case of dyskeratosis congenita. (10972098)
2000
29
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (10364516)
1999
30
Tongue cancer as a complication of dyskeratosis congenita in a woman. (10609487)
1999
31
Dyskeratosis congenita: an autosomal recessive variant. (10096592)
1999
32
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (10583221)
1999
33
Case report: gastric carcinoma as a complication of dyskeratosis congenita in an adolescent boy. (9011439)
1996
34
Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)
1994
35
Oral squamous cell carcinoma in a case of dyskeratosis congenita. (8060104)
1994
36
Dyskeratosis congenita with esophageal stricture and dermatological manifestations. (7859688)
1994
37
Bronchoalveolar disease in dyskeratosis congenita. (1563509)
1992
38
What syndrome is this characteristic of? Dyskeratosis congenita. (1862031)
1991
39
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. (2301400)
1990
40
Cytogenetic abnormalities in dyskeratosis congenita--report of five cases. (3214948)
1988
41
Dyskeratosis congenita in two male cousins. (3480002)
1987
42
Dyskeratosis congenita: report of the first case from India. (3522695)
1986
43
Dyskeratosis congenita with pancytopenia and horseshoe kidney. (6710212)
1984
44
Haemopoietic progenitor cells in dyskeratosis congenita. (6607741)
1984
45
Suppression of cytotoxic effect of mitomycin-C by superoxide dismutase in Fanconi's anemia and dyskeratosis congenita fibroblasts. (6409437)
1983
46
Dyskeratosis congenita: two examples of this multisystem disorder. (6601257)
1983
47
Deficit of cell-mediated immunity, chromosomal alterations and defective DNA repair in a case of dyskeratosis congenita. (7351274)
1980
48
Dyskeratosis congenita. (5831191)
1965
49
Dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris; a follow-up report of two brothers. (13544605)
1958
50
Dyskeratosis ichthyosiformis congenita migrans: a variant of congenital ichthyosiform erythroderma. (13582209)
1958

Genetic Variations for Dyskeratosis Congenita

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Dyskeratosis Congenita:

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

Expression for genes affiliated with Dyskeratosis Congenita

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB
See all sources

Compounds related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tin(2+)4510.2TERC, TERT, TINF2
2uridine45 11 2412.2DKC1, NOP10, TERC
3pseudouridine45 2411.2NHP2, TERC, NOP10, DKC1
4lipofectamine4510.2TERC, TERT
5paraffin459.9TERC, TERT, MAGEA1, MAGEA3
6adpribose459.9TINF2, TERT, TERC

GO Terms for genes affiliated with Dyskeratosis Congenita

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet