DKC
MCID: DYS007
MIFTS: 64

Dyskeratosis Congenita (DKC) malady

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

Summaries for Dyskeratosis Congenita

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Dyskeratosis Congenita

About this section
Sources:
50PubMed
See all sources

Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. (23751955)
2013
2
DNA damage responses and oxidative stress in dyskeratosis congenita. (24124565)
2013
3
Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome. (23621889)
2013
4
Telomere dysfunction and tumor suppression responses in dyskeratosis congenita: balancing cancer and tissue renewal impairment. (23541441)
2013
5
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. (21477109)
2012
6
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. (22058220)
2012
7
Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation. (23094712)
2012
8
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. (21536674)
2011
9
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience. (21284747)
2011
10
Dyskeratosis congenita with portal hypertension of unknown etiology. (21755768)
2011
11
A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex. (20979174)
2010
12
Dyskeratosis congenita and limbal stem cell deficiency. (20036237)
2010
13
Dyskeratosis congenita. (20493861)
2010
14
Dyskeratosis congenita. (20687509)
2010
15
Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (19095616)
2009
16
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (17507419)
2007
17
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. (17381549)
2007
18
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. (17760812)
2007
19
Scytalidium infection associated with dyskeratosis congenita. (17300269)
2007
20
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. (17468339)
2007
21
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure. (17317590)
2007
22
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (16690864)
2006
23
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. (17015423)
2006
24
Dyskeratosis congenita: a disorder of defective telomere maintenance? (16207588)
2005
25
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. (15238429)
2005
26
Dynamic behavior of the telomerase RNA hairpin structure and its relationship to dyskeratosis congenita. (15808851)
2005
27
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. (15098033)
2004
28
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217)
2003
29
Missense mutation in a patient with X-linked dyskeratosis congenita. (12681984)
2003
30
Oral carcinoma in a young man: a case of dyskeratosis congenita. (10972098)
2000
31
Tongue cancer as a complication of dyskeratosis congenita in a woman. (10609487)
1999
32
Dyskeratosis congenita: an autosomal recessive variant. (10096592)
1999
33
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (10583221)
1999
34
Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita. (9372117)
1996
35
Dyskeratosis congenita. (7712648)
1995
36
What syndrome is this characteristic of? Dyskeratosis congenita. (1862031)
1991
37
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. (2301400)
1990
38
Cytogenetic abnormalities in dyskeratosis congenita--report of five cases. (3214948)
1988
39
An unusual case of dyskeratosis congenita with intracranial calcifications. (3183098)
1988
40
Fanconi anemia, dyskeratosis congenita, and WT syndrome. (2453204)
1987
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: survival, sister-chromatid exchange and repair following treatments with crosslinking agents. (7087993)
1982
47
Dyskeratosis congenita Zinsser-Cole-Engmann form with abnormal karyotype. (4837655)
1974
48
Dyskeratosis congenita: relationship to Fanconi's anemia. (4622206)
1972
49
FANCONI'S ANAEMIA AND DYSKERATOSIS CONGENITA AS A SYNDROME. (14063154)
1963
50
Four hereditary mucosal syndromes: comparative histology and exfoliative cytology of Darier-White's disease, hereditary benign intraepithelial dyskeratosis, white sponge nevus, and pachyonychia congenita. (14007732)
1961

Genetic Variations for Dyskeratosis Congenita

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
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

About this section
Sources:
51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 29KEGG
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

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB
See all sources

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita

About this section
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