MCID: DYS007
MIFTS: 70

Dyskeratosis Congenita malady

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

Summaries for Dyskeratosis Congenita

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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 based summary: Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to aplastic anemia and dyskeratosis congenita autosomal dominant, and has symptoms including hypermelanotic macule, abnormality of the fingernails and thrombocytopenia. An important gene associated with Dyskeratosis Congenita is DKC1 (dyskeratosis congenita 1, dyskerin), and among its related pathways are Telomere Extension By Telomerase and Ribosome biogenesis in eukaryotes. The compounds adpribose and uridine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotype cellular.

Disease Ontology:10 A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.

Genetics Home Reference:23 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:65 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...

GeneReviews summary for dkc

Aliases & Classifications for Dyskeratosis Congenita

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Sources:
21GeneReviews, 62UMLS, 10Disease Ontology, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 35MeSH, 57SNOMED-CT, 29ICD9CM, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dyskeratosis Congenita, Aliases & Descriptions:

Name: Dyskeratosis Congenita 10 21 43 22 23 12 45 49 24 62
Hoyeraal-Hreidarsson Syndrome 43 45 49 24 62
Zinsser-Cole-Engman Syndrome 21 23 62
Progressive Pancytopenia - Immunodeficiency - Cerebellar Hypoplasia 43 49
Cerebellar Hypoplasia with Pancytopenia 43 62
Hoyeraal Hreidarsson Syndrome 21 43
 
Zinsser-Engman-Cole Syndrome 43 49
Revesz Syndrome 21 62
Dkc 43 49
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 43
Exudative Retinopathy with Bone Marrow Failure 62
Dc 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
dyskeratosis congenita:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult
hoyeraal-hreidarsson syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

Disease Ontology10 DOID:2729
MeSH35 D019871
ICD9CM29 757.39
Orphanet49 1775, 3322
SNOMED-CT57 74911008
MESH via Orphanet36 D019871, C536068
ICD10 via Orphanet28 Q82.8, D61.0
UMLS via Orphanet63 C0265965, C1846142

Related Diseases for Dyskeratosis Congenita

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Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Recessive 4
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
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

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia31.0TERC, TERT, DKC1
2dyskeratosis congenita autosomal dominant30.9TERT, TERC, DKC1
3leukoplakia30.7DKC1, TERC
4dyskeratosis congenita, autosomal recessive 410.6
5dyskeratosis congenita, x-linked10.6
6hematopoietic stem cell transplantation10.6
7pancytopenia10.6
8dyskeratosis congenita, autosomal dominant 110.6
9dyskeratosis congenita, autosomal recessive 210.6
10dyskeratosis congenita, autosomal dominant 310.6
11dyskeratosis congenita, autosomal recessive 310.6
12dyskeratosis congenita, autosomal recessive 510.6
13dyskeratosis congenita, autosomal recessive 110.5
14retinitis10.5
15dyskeratosis congenita autosomal recessive10.5
16thymic dysplasia10.5
17neutropenia10.4
18pulmonary fibrosis10.4
19pneumonia10.4
20severe combined immunodeficiency10.4
21revesz syndrome10.4
22portal hypertension10.4
23myelodysplastic syndrome10.3
24hepatitis10.3
25limbal stem cell deficiency10.3
26thrombocytopenia10.3
27esophagitis10.3
28interstitial lung disease10.3
29chronic graft versus host disease10.3
30inherited bone marrow failure syndromes10.3
31tert-related dyskeratosis congenita10.3
32dkc1-related dyskeratosis congenita10.3
33terc-related dyskeratosis congenita10.3
34tinf2-related dyskeratosis congenita10.3
35nop10-related dyskeratosis congenita10.3
36nhp2-related dyskeratosis congenita10.3
37wrap53-related dyskeratosis congenita10.3
38schizophrenia10.1
39rothmund-thomson syndrome10.1
40poikiloderma with neutropenia10.1
41cerebroretinal microangiopathy with calcifications and cysts10.1
42epidermodysplasia verruciformis10.1
43kindler syndrome10.1
44hiv-110.1
45bone marrow failure, telomere-related, 110.1
46bronchiolitis obliterans10.1
47cataract10.1
48common variable immunodeficiency10.1
49ectodermal dysplasia10.1
50hemolytic anemia10.1

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:

 49 (show all 82)
  • anomalies of tongue, gingiva and oral mucosa
  • anomalies of skin, subcutaneous tissue and mucosae
  • macules
  • irregular/in bands/reticular skin hyperpigmentation
  • abnormal fingernails
  • thin/hypoplastic/hyperconvex fingernails
  • dysplastic/thick/grooved toenails
  • anaemia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • thrombocytopenia/thrombopenia
  • x-linked recessive inheritance
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • multiple caries
  • hyperhidrosis/increased sweating
  • skin hypoplasia/aplasia/atrophy
  • palmoplantar hyperkeratosis/keratoderma
  • chronic skin infection/ulcerations/ulcers/cancrum
  • irregular/patchy skin hypopigmentation
  • telangiectasiae of the skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • absent/small fingernails/anonychia of hands
  • absent/small toenails/anonychia of feet
  • anomaly of the pharynx/pharyngeal anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • anus/rectum anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • repeat respiratory infections
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • uterine/uterus/fallopian tubes anomalies
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • mutiple fractures/bone fragility
  • rough trabeculation of bone
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • t-cell deficiency/cellular immunity deficiency
  • bone marrow failure/pancytopenia
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • neoplasms/tumors
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • hearing loss/hypoacusia/deafness
  • scoliosis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • alopecia
  • premature greying of hair
  • albinism (hair)
  • cirrhosis
  • hepatocellular liver disease/hepatic failure
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hypospadias/epispadias/bent penis
  • testis anomalies
  • diabetes mellitus
  • intracranial/cerebral calcifications
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteonecrosis/bone infarction
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • lymphoma
  • microcephaly
  • purpura/petichiae
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • rippled skin
  • enanthema/aphtosa/aphta/leukoplakia
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • decreased hair pigmentation/hypopigmentation of hair
  • nails anomalies
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypertonia/spasticity/rigidity/stiffness
  • clotting/hemostasis disorders
  • ataxia/incoordination/trouble of the equilibrium
  • areflexia/hyporeflexia
  • white cell disorders

HPO human phenotypes related to Dyskeratosis Congenita:

(show all 70)
id Description Frequency HPO Source Accession
1 hypermelanotic macule hallmark (90%) HP:0001034
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 thrombocytopenia hallmark (90%) HP:0001873
4 abnormality of neutrophils hallmark (90%) HP:0001874
5 anemia hallmark (90%) HP:0001903
6 microcephaly hallmark (90%) HP:0000252
7 intrauterine growth retardation hallmark (90%) HP:0001511
8 subcutaneous hemorrhage hallmark (90%) HP:0001933
9 short stature hallmark (90%) HP:0004322
10 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
11 abnormality of immune system physiology hallmark (90%) HP:0010978
12 cognitive impairment hallmark (90%) HP:0100543
13 abnormality of female internal genitalia typical (50%) HP:0000008
14 abnormality of the testis typical (50%) HP:0000035
15 abnormality of the pharynx typical (50%) HP:0000600
16 carious teeth typical (50%) HP:0000670
17 hyperhidrosis typical (50%) HP:0000975
18 palmoplantar keratoderma typical (50%) HP:0000982
19 hypopigmented skin patches typical (50%) HP:0001053
20 intrauterine growth retardation typical (50%) HP:0001511
21 anonychia typical (50%) HP:0001798
22 abnormality of coagulation typical (50%) HP:0001928
23 malabsorption typical (50%) HP:0002024
24 recurrent respiratory infections typical (50%) HP:0002205
25 tracheoesophageal fistula typical (50%) HP:0002575
26 recurrent fractures typical (50%) HP:0002757
27 short stature typical (50%) HP:0004322
28 cellular immunodeficiency typical (50%) HP:0005374
29 bone marrow hypocellularity typical (50%) HP:0005528
30 aplasia/hypoplasia of the skin typical (50%) HP:0008065
31 aplastic/hypoplastic toenail typical (50%) HP:0010624
32 cognitive impairment typical (50%) HP:0100543
33 teleangiectasia of the skin typical (50%) HP:0100585
34 rough bone trabeculation typical (50%) HP:0100670
35 skin ulcer typical (50%) HP:0200042
36 abnormality of the oral cavity typical (50%) HP:0000163
37 hypertonia typical (50%) HP:0001276
38 abnormality of the nail typical (50%) HP:0001597
39 anemia typical (50%) HP:0001903
40 ventriculomegaly typical (50%) HP:0002119
41 cerebral cortical atrophy typical (50%) HP:0002120
42 hypopigmentation of hair typical (50%) HP:0005599
43 generalized hyperpigmentation typical (50%) HP:0007440
44 abnormal hair quantity typical (50%) HP:0011362
45 abnormality of the testis occasional (7.5%) HP:0000035
46 hearing impairment occasional (7.5%) HP:0000365
47 cataract occasional (7.5%) HP:0000518
48 abnormality of the eyebrow occasional (7.5%) HP:0000534
49 diabetes mellitus occasional (7.5%) HP:0000819
50 cirrhosis occasional (7.5%) HP:0001394
51 hepatic failure occasional (7.5%) HP:0001399
52 alopecia occasional (7.5%) HP:0001596
53 splenomegaly occasional (7.5%) HP:0001744
54 premature graying of hair occasional (7.5%) HP:0002216
55 hepatomegaly occasional (7.5%) HP:0002240
56 cerebral calcification occasional (7.5%) HP:0002514
57 scoliosis occasional (7.5%) HP:0002650
58 lymphoma occasional (7.5%) HP:0002665
59 neoplasm of the pancreas occasional (7.5%) HP:0002894
60 reduced bone mineral density occasional (7.5%) HP:0004349
61 hypopigmentation of hair occasional (7.5%) HP:0005599
62 abnormal blistering of the skin occasional (7.5%) HP:0008066
63 aseptic necrosis occasional (7.5%) HP:0010885
64 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
65 displacement of the external urethral meatus occasional (7.5%) HP:0100627
66 reduced tendon reflexes occasional (7.5%) HP:0001315
67 abnormality of leukocytes occasional (7.5%) HP:0001881
68 incoordination occasional (7.5%) HP:0002311
69 neoplasm occasional (7.5%) HP:0002664
70 bone marrow hypocellularity occasional (7.5%) HP:0005528

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 Congenita22 24 WRAP53
2 Dyskeratosis Congenita Multi-Gene Panels22
3 Hoyeraal Hreidarsson Syndrome24

Anatomical Context for Dyskeratosis Congenita

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MalaCards organs/tissues related to Dyskeratosis Congenita:

33
Skin, Bone, Bone marrow, Liver, Eye, Cerebellum, Pancreas, Testis, Neutrophil, T cells, Tongue, Uterus, Testes, Lung, Kidney, B cells

Animal Models for Dyskeratosis Congenita or affiliated genes

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MGI Mouse Phenotypes related to Dyskeratosis Congenita:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.9CTC1, ACD, DKC1, TINF2, RTEL1, TERC

Publications for Dyskeratosis Congenita

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Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 408)
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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Clinvar genetic disease variations for Dyskeratosis Congenita:

7 (show all 72)
id Gene Variation 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
4TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)single nucleotide variantPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
5TERTNM_198253.2(TERT): c.1892G> A (p.Arg631Gln)single nucleotide variantPathogenicrs199422294GRCh37Chr 5, 1280331: 1280331
6TERTNM_198253.2(TERT): c.2431C> T (p.Arg811Cys)single nucleotide variantPathogenicrs199422301GRCh37Chr 5, 1271271: 1271271
7TERTNM_198253.2(TERT): c.2701C> T (p.Arg901Trp)single nucleotide variantPathogenicrs199422304GRCh37Chr 5, 1264661: 1264661
8TERCTERC, 4-BP DEL, NT54deletionPathogenic
9WRAP53NM_018081.2(WRAP53): c.1192C> T (p.Arg398Trp)single nucleotide variantPathogenicrs281865548GRCh37Chr 17, 7606088: 7606088
10WRAP53NM_018081.2(WRAP53): c.1126C> T (p.His376Tyr)single nucleotide variantPathogenicrs281865549GRCh37Chr 17, 7605832: 7605832
11TINF2NM_001099274.1(TINF2): c.805C> T (p.Gln269Ter)single nucleotide variantPathogenicrs387907153GRCh37Chr 14, 24709881: 24709881
12TINF2NM_001099274.1(TINF2): c.811C> T (p.Gln271Ter)single nucleotide variantPathogenicrs387907154GRCh37Chr 14, 24709875: 24709875
13TINF2TINF2, 1-BP DEL, 826AdeletionPathogenic
14TINF2NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)single nucleotide variantPathogenicrs199422321GRCh37Chr 14, 24709980: 24709980
15TINF2NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)single nucleotide variantPathogenicrs142777869GRCh37Chr 14, 24709952: 24709952
16TINF2NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
17TINF2NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)single nucleotide variantPathogenicrs199422322GRCh37Chr 14, 24709845: 24709845
18TINF2NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
19TINF2NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
20TINF2NM_001099274.1(TINF2): c.848C> A (p.Pro283His)single nucleotide variantPathogenicrs199422313GRCh37Chr 14, 24709838: 24709838
21TINF2NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)duplicationPathogenicrs199422315GRCh37Chr 14, 24709836: 24709837
22TINF2NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)single nucleotide variantPathogenicrs199422314GRCh37Chr 14, 24709836: 24709836
23TINF2NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)single nucleotide variantPathogenicrs199422316GRCh37Chr 14, 24709826: 24709826
24TINF2NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)indelPathogenicrs199422318GRCh37Chr 14, 24709820: 24709821
25TINF2NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)single nucleotide variantPathogenicrs199422319GRCh37Chr 14, 24709815: 24709815
26TINF2NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)deletionPathogenicrs199422320GRCh37Chr 14, 24709794: 24709794
27TERTTERT: c.1710G> Y (p.Lys570Asn)single nucleotide variantPathogenic
28TERTNM_198253.2(TERT): c.2029G> T (p.Gly677Cys)single nucleotide variantPathogenicrs199422296GRCh37Chr 5, 1279507: 1279507
29TERTNM_198253.2(TERT): c.2045G> A (p.Gly682Asp)single nucleotide variantPathogenicrs199422295GRCh37Chr 5, 1279491: 1279491
30TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)single nucleotide variantPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
31TERTNM_198253.2(TERT): c.2162C> G (p.Pro721Arg)single nucleotide variantPathogenicrs199422299GRCh37Chr 5, 1278880: 1278880
32TERTNM_198253.2(TERT): c.2177C> T (p.Thr726Met)single nucleotide variantPathogenicrs149566858GRCh37Chr 5, 1278865: 1278865
33TERTNM_198253.2(TERT): c.2935C> T (p.Arg979Trp)single nucleotide variantPathogenicrs199422305GRCh37Chr 5, 1260624: 1260624
34TERCNR_001566.1(TERC): n.-240_-239delCTdeletionPathogenicrs199422255GRCh37Chr 3, 169483087: 169483088
35TERCNR_001566.1(TERC): n.100T> Asingle nucleotide variantPathogenicrs199422269GRCh37Chr 3, 169482749: 169482749
36TERCNR_001566.1(TERC): n.143G> Asingle nucleotide variantPathogenicrs199422274GRCh37Chr 3, 169482706: 169482706
37TERCNR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGCdeletionPathogenicrs199422278GRCh37Chr 3, 169482620: 169482633
38TERCNR_001566.1(TERC): n.228G> Asingle nucleotide variantPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
39TERCNR_001566.1(TERC): n.2G> Csingle nucleotide variantPathogenicrs199422257GRCh37Chr 3, 169482847: 169482847
40TERCNR_001566.1(TERC): n.35C> Tsingle nucleotide variantPathogenicrs199422260GRCh37Chr 3, 169482814: 169482814
41TERCNR_001566.1(TERC): n.37A> Gsingle nucleotide variantPathogenicrs199422261GRCh37Chr 3, 169482812: 169482812
42TERCNR_001566.1(TERC): n.410C> Gsingle nucleotide variantPathogenicrs199422286GRCh37Chr 3, 169482439: 169482439
43TERCNR_001566.1(TERC): n.48A> Gsingle nucleotide variantPathogenicrs199422262GRCh37Chr 3, 169482801: 169482801
44TERCNR_001566.1(TERC): n.52_55delCTAAdeletionPathogenicrs199422263GRCh37Chr 3, 169482794: 169482797
45TERCNR_001566.1(TERC): n.53_87del35deletionPathogenicrs199422264GRCh37Chr 3, 169482762: 169482796
46TERCNR_001566.1(TERC): n.79delCdeletionPathogenicrs199422266GRCh37Chr 3, 169482770: 169482770
47TERCNR_001566.1(TERC): n.96_97delCTdeletionPathogenicrs199422267GRCh37Chr 3, 169482752: 169482753
48NR_001566.1(TERC): n.-2660_316del2976deletionPathogenicGRCh37Chr 3, 169482533: 169485508
49WRAP53NM_018081.2(WRAP53): c.1303G> A (p.Gly435Arg)single nucleotide variantPathogenicrs281865550GRCh37Chr 17, 7606345: 7606345
50NM_018081.2(WRAP53): c.492C> A (p.Phe164Leu)single nucleotide variantPathogenicrs281865547GRCh37Chr 17, 7592602: 7592602
51NM_032957.4(RTEL1): c.2288G> T (p.Gly763Val)single nucleotide variantPathogenicrs398123016GRCh37Chr 20, 62321514: 62321514
52RTEL1: c.2402G> A (p.p.Arg801His)single nucleotide variantPathogenicrs201540674GRCh37Chr 20, 62326972: 62326972
53NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile)single nucleotide variantPathogenicrs370343781GRCh37Chr 20, 62319118: 62319118
54NM_032957.4(RTEL1): c.2992C> T (p.Arg998Ter)single nucleotide variantPathogenicrs398123017GRCh37Chr 20, 62324564: 62324564
55NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp)single nucleotide variantPathogenicrs398123018GRCh37Chr 20, 62324513: 62324513
56NM_032957.4(RTEL1): c.823G> A (p.Glu275Lys)single nucleotide variantPathogenicrs398123019GRCh37Chr 20, 62303960: 62303960
57NOP10NM_018648.3(NOP10): c.100C> T (p.Arg34Trp)single nucleotide variantPathogenicrs121908092GRCh37Chr 15, 34634264: 34634264
58NHP2NM_017838.3(NHP2): c.415T> C (p.Tyr139His)single nucleotide variantPathogenicrs121908089GRCh37Chr 5, 177576761: 177576761
59NHP2NM_017838.3(NHP2): c.376G> A (p.Val126Met)single nucleotide variantPathogenicrs121908090GRCh37Chr 5, 177576800: 177576800
60NHP2NM_017838.3(NHP2): c.460T> A (p.Ter154Arg)single nucleotide variantPathogenicrs121908091GRCh37Chr 5, 177576716: 177576716
61TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
62TINF2NM_001099274.1(TINF2): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs121918544GRCh37Chr 14, 24709841: 24709841
63TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
64TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
65RTEL1: c.3724+78T> Csingle nucleotide variantPathogenicGRCh37Chr 20, 62326911: 62326911
66NM_016434.3(RTEL1): c.2097C> G (p.Ile699Met)single nucleotide variantPathogenicrs398123048GRCh37Chr 20, 62321174: 62321174
67NM_016434.3(RTEL1): c.2233G> A (p.Val745Met)single nucleotide variantPathogenicrs398123049GRCh37Chr 20, 62321531: 62321531
68NM_016434.3(RTEL1): c.2141+5G> Asingle nucleotide variantPathogenicrs398123050GRCh37Chr 20, 62321223: 62321223
69NM_032957.4(RTEL1): c.1845G> T (p.Glu615Asp)single nucleotide variantPathogenicrs398123051GRCh37Chr 20, 62319931: 62319931
70TERCNR_001566.1(TERC): n.374_1194del821deletionPathogenicGRCh37Chr 3, 169481655: 169482475
71TERCNR_001566.1(TERC): n.408C> Gsingle nucleotide variantPathogenicrs199422284GRCh37Chr 3, 169482441: 169482441
72TERCNR_001566.1(TERC): n.107_108delGCinsAGindelPathogenicrs199476393GRCh37Chr 3, 169482741: 169482742

Cosmic variations for Dyskeratosis Congenita:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1584NRASskin,neck,benign melanocytic nevus,congenital1

Expression for genes affiliated with Dyskeratosis Congenita

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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
10.1TINF2, TERT
29.9NOP10, DKC1, NHP2
3
Show member pathways
9.6TERT, NHP2, WRAP53, DKC1
49.6TERT, TINF2, DKC1, ACD
5
Show member pathways
9.2TERT, NHP2, WRAP53, TINF2, DKC1, ACD
6
Show member pathways
9.2ACD, DKC1, TINF2, WRAP53, NHP2, TERT

Compounds for genes affiliated with Dyskeratosis Congenita

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Sources:
45Novoseek, 26HMDB, 13DrugBank
See all sources

Compounds related to Dyskeratosis Congenita according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adpribose459.9TINF2, TERC, TERT
2uridine45 26 1311.8TERC, DKC1, NOP10
3lipofectamine459.8TERC, TERT
4tin(2+)459.7ACD, TINF2, TERC, TERT
5pseudouridine45 2610.7NOP10, DKC1, NHP2, TERC

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
1telomerase holoenzyme complexGO:000569710.0DKC1, WRAP53, TERT
2small nucleolar ribonucleoprotein complexGO:00057329.9NHP2, NOP10
3nuclear telomere cap complexGO:00007839.9TERT, TINF2, ACD
4chromosome, telomeric regionGO:00007819.8ACD, TINF2, TERT
5Cajal bodyGO:00150309.7NOP10, DKC1, WRAP53, NHP2
6nucleusGO:00056348.0RTEL1, USB1, WRAP53, TINF2, DKC1, MAGEA2B
7cellular_componentGO:00055758.0MAGEA12, MAGEA4, MAGEA8, MAGEA6

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1telomere formation via telomeraseGO:003220310.2TERT, WRAP53
2telomere assemblyGO:003220210.2ACD, TINF2
3telomere maintenance via telomere lengtheningGO:001083310.2TINF2, CTC1
4negative regulation of telomere maintenance via telomeraseGO:003221110.1TINF2, ACD
5positive regulation of telomerase activityGO:005197310.1ACD, WRAP53
6protein localization to chromosome, telomeric regionGO:007019810.1TINF2, ACD
7replicative senescenceGO:009039910.0CTC1, TERT
8telomere maintenance via telomeraseGO:000700410.0DKC1, TERT
9pseudouridine synthesisGO:00015229.8DKC1, NOP10
10telomere maintenanceGO:00007239.4CTC1, TERT, RTEL1, TINF2, DKC1, ACD
11biological_processGO:00081508.3MAGEA12, MAGEA4, MAGEA8, MAGEA6

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

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:000372010.1DKC1, TERT
2telomeric DNA bindingGO:004216210.0TINF2, TERT
3snoRNA bindingGO:00305159.7NHP2, NOP10
4protein bindingGO:00055156.7MAGEA2B, CTC1, TERT, RTEL1, WRAP53, TINF2

Products for genes affiliated with Dyskeratosis Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dyskeratosis Congenita

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet