Dyskeratosis Congenita malady

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

Summaries for Dyskeratosis Congenita

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NIH Rare Diseases:41 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.

Disease Ontology:9 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: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...

GeneReviews summary for dkc

Aliases & Classifications for Dyskeratosis Congenita

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9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Dyskeratosis Congenita, Aliases & Descriptions:

Name: Dyskeratosis Congenita 9 19 41 20 21 11 43 47 22 60
Hoyeraal-Hreidarsson Syndrome 41 43 47 22 60
Progressive Pancytopenia - Immunodeficiency - Cerebellar Hypoplasia 41 47
Hoyeraal Hreidarsson Syndrome 19 41
Zinsser-Cole-Engman Syndrome 19 21
Zinsser-Engman-Cole Syndrome 41 47
Revesz Syndrome 19 60
Dkc 41 47
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 41
Cerebellar Hypoplasia with Pancytopenia 41
X-Linked Dyskeratosis Congenita 60
Dc 47


Characteristics (Orphanet epidemiological data):

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 Ontology9 DOID:2729
MeSH33 D019871
ICD9CM27 757.39
Orphanet47 1775, 3322
SNOMED-CT55 74911008
MESH via Orphanet34 D019871, C536068
ICD10 via Orphanet26 Q82.8, D61.0
UMLS via Orphanet61 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 Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1aplastic anemia31.5TERT, DKC1, TERC
2dyskeratosis congenita autosomal dominant31.4TERT, TERC, DKC1
3leukoplakia31.1TERC, DKC1
4dyskeratosis congenita, x-linked10.7
5dyskeratosis congenita, autosomal recessive 410.6
6dyskeratosis congenita, autosomal dominant 110.6
7dyskeratosis congenita, autosomal recessive 210.6
8dyskeratosis congenita, autosomal dominant 310.6
9dyskeratosis congenita, autosomal recessive 310.6
10dyskeratosis congenita, autosomal recessive 510.6
11hematopoietic stem cell transplantation10.6
13dyskeratosis congenita autosomal recessive10.6
14dyskeratosis congenita, autosomal recessive 110.6
16thymic dysplasia10.5
17band-like calcification with simplified gyration and polymicrogyria10.5DKC1
19pulmonary fibrosis10.4
21pulmonary fibrosis, familial10.4TERC, TERT
22severe combined immunodeficiency10.4
23revesz syndrome10.4
24portal hypertension10.4
25tert-related dyskeratosis congenita10.4
26dkc1-related dyskeratosis congenita10.4
27terc-related dyskeratosis congenita10.4
28tinf2-related dyskeratosis congenita10.4
29nop10-related dyskeratosis congenita10.4
30nhp2-related dyskeratosis congenita10.4
31wrap53-related dyskeratosis congenita10.4
32gastritis10.3TERC, TERT
33myelodysplastic syndrome10.3
35limbal stem cell deficiency10.3
38interstitial lung disease10.3
39chronic graft versus host disease10.3
40inherited bone marrow failure syndromes10.3
41teratoma10.3TERC, TERT
42cervical intraepithelial neoplasia10.2TERT, TERC
43malignant glioma10.2TERC, RTEL1, TERT
44seminoma10.2MAGEA4, TERC, MAGEA1
46huntington disease10.1
47rothmund-thomson syndrome10.1
48poikiloderma with neutropenia10.1
49cerebroretinal microangiopathy with calcifications and cysts10.1
50epidermodysplasia verruciformis10.1

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

Diseases related to dyskeratosis congenita

Symptoms for Dyskeratosis Congenita

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 47 (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 Congenita20 22 WRAP53
2 Dyskeratosis Congenita Multi-Gene Panels20
3 Hoyeraal Hreidarsson Syndrome22

Anatomical Context for Dyskeratosis Congenita

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MalaCards organs/tissues related to Dyskeratosis Congenita:

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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Publications for Dyskeratosis Congenita

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Articles related to Dyskeratosis Congenita:

(show top 50)    (show all 408)
Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy. (25067791)
Successful T-cell Depleted Haploidentical Hematopoietic Stem Cell Transplantation in a Child With Dyskeratosis Congenita After a Fludarabine-based Conditioning Regimen. (25374286)
Dyskeratosis congenita: a report of two cases. (23984114)
Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. (24072216)
Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. (23403051)
Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation. (23242325)
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)
Dyskeratosis congenita as a disorder of telomere maintenance. (21745483)
The relationship between DNA methylation and telomere length in dyskeratosis congenita. (21981348)
Marathon of eponyms: 26 Zinsser-Engman-Cole syndrome (Dyskeratosis congenita). (22672294)
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita. (22932806)
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? (22458992)
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita. (22117216)
A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex. (20979174)
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. (19879169)
Dyskeratosis congenita: clinical report and review of the literature. (20096085)
Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report. (19830116)
An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)
Dyskeratosis congenita, a disease caused by defective telomere maintenance]. (18405638)
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (18042801)
POT of gold: modeling dyskeratosis congenita in the mouse. (18593874)
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)
Dyskeratosis congenita: its connections with oral and maxillofacial surgery. (16024141)
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (17507419)
Dysfunctional telomeres and dyskeratosis congenita. (17650438)
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. (17381549)
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (16690864)
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. (16720563)
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (15842668)
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (15613268)
Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. (12525685)
YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. (14624001)
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)
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (10438713)
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (10364516)
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (9590285)
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (9042917)
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. (9051251)
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. (1361371)
Bone marrow transplantation for dyskeratosis congenita. (1643034)
Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. (2166977)
Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. (2483541)
Fanconi anemia, dyskeratosis congenita, and WT syndrome. (2453204)
Assignment of the gene for dyskeratosis congenita to Xq28. (3009302)
Dyskeratosis congenita with pancytopenia and horseshoe kidney. (6710212)
Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. (602933)
Dyskeratosis congenita. (4106452)
Dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris; a follow-up report of two brothers. (13544605)

Variations for Dyskeratosis Congenita

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Clinvar genetic disease variations for Dyskeratosis Congenita:

6 (show all 108)
id Gene Variation Type Significance SNP ID Assembly Location
1DKC1NM_001363.4(DKC1): c.106T> G (p.Phe36Val)single nucleotide variantPathogenicrs121912293GRCh37Chr X, 153993740: 153993740
2DKC1NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del)deletionPathogenicrs137854489GRCh37Chr X, 153993743: 153993745
3DKC1NM_001363.4(DKC1): c.119C> G (p.Pro40Arg)single nucleotide variantPathogenicrs121912292GRCh37Chr X, 153993753: 153993753
4DKC1NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr)indelPathogenicrs121912294GRCh37Chr X, 153994224: 153994225
5DKC1NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu)single nucleotide variantPathogenicrs121912295GRCh37Chr X, 154002926: 154002926
6DKC1NM_001363.4(DKC1): c.1058C> T (p.Ala353Val)single nucleotide variantPathogenicrs121912288GRCh37Chr X, 154001427: 154001427
7DKC1NM_001363.4(DKC1): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs121912304GRCh37Chr X, 153993780: 153993780
8DKC1NM_001363.4(DKC1): c.361A> G (p.Ser121Gly)single nucleotide variantPathogenicrs121912305GRCh37Chr X, 153994588: 153994588
9DKC1NM_001363.4(DKC1): c.113T> C (p.Ile38Thr)single nucleotide variantPathogenicGRCh37Chr X, 153993747: 153993747
10DKC1NM_001363.4(DKC1): c.91C> A (p.Gln31Lys)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
11DKC1NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala)single nucleotide variantPathogenicrs137854492GRCh37Chr X, 154001438: 154001438
12TERTNM_198253.2(TERT): c.2706G> C (p.Lys902Asn)single nucleotide variantPathogenicrs121918665GRCh37Chr 5, 1264656: 1264656
13TERTNM_198253.2(TERT): c.1892G> A (p.Arg631Gln)single nucleotide variantPathogenicrs199422294GRCh37Chr 5, 1280331: 1280331
14TERTNM_198253.2(TERT): c.2431C> T (p.Arg811Cys)single nucleotide variantPathogenicrs199422301GRCh37Chr 5, 1271271: 1271271
15TERTNM_198253.2(TERT): c.2701C> T (p.Arg901Trp)single nucleotide variantPathogenicrs199422304GRCh37Chr 5, 1264661: 1264661
16TERCTERC, 4-BP DEL, NT54deletionPathogenic
17WRAP53NM_018081.2(WRAP53): c.1192C> T (p.Arg398Trp)single nucleotide variantPathogenicrs281865548GRCh37Chr 17, 7606088: 7606088
18WRAP53NM_018081.2(WRAP53): c.1126C> T (p.His376Tyr)single nucleotide variantPathogenicrs281865549GRCh37Chr 17, 7605832: 7605832
19TINF2NM_001099274.1(TINF2): c.805C> T (p.Gln269Ter)single nucleotide variantPathogenicrs387907153GRCh37Chr 14, 24709881: 24709881
20TINF2NM_001099274.1(TINF2): c.811C> T (p.Gln271Ter)single nucleotide variantPathogenicrs387907154GRCh37Chr 14, 24709875: 24709875
21TINF2TINF2, 1-BP DEL, 826AdeletionPathogenic
22TINF2NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)single nucleotide variantPathogenicrs199422321GRCh37Chr 14, 24709980: 24709980
23TINF2NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)single nucleotide variantPathogenicrs142777869GRCh37Chr 14, 24709952: 24709952
24TINF2NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
25TINF2NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)single nucleotide variantPathogenicrs199422322GRCh37Chr 14, 24709845: 24709845
26TINF2NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
27TINF2NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)single nucleotide variantPathogenicrs199422311GRCh37Chr 14, 24709839: 24709839
28TINF2NM_001099274.1(TINF2): c.848C> A (p.Pro283His)single nucleotide variantPathogenicrs199422313GRCh37Chr 14, 24709838: 24709838
29TINF2NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)duplicationPathogenicrs199422315GRCh37Chr 14, 24709836: 24709837
30TINF2NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)single nucleotide variantPathogenicrs199422314GRCh37Chr 14, 24709836: 24709836
31TINF2NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)single nucleotide variantPathogenicrs199422316GRCh37Chr 14, 24709826: 24709826
32TINF2NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)indelPathogenicrs199422318GRCh37Chr 14, 24709820: 24709821
33TINF2NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)single nucleotide variantPathogenicrs199422319GRCh37Chr 14, 24709815: 24709815
34TINF2NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)deletionPathogenicrs199422320GRCh37Chr 14, 24709794: 24709794
35DKC1NM_001363.4(DKC1): c.1049T> C (p.Met350Thr)single nucleotide variantPathogenicrs121912300GRCh37Chr X, 154001418: 154001418
36DKC1NM_001363.4(DKC1): c.1050G> A (p.Met350Ile)single nucleotide variantPathogenicrs121912298GRCh37Chr X, 154001419: 154001419
37DKC1NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn)single nucleotide variantPathogenicrs199422249GRCh37Chr X, 154001444: 154001444
38DKC1NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser)single nucleotide variantPathogenicrs199422250GRCh37Chr X, 154001519: 154001519
39DKC1NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicrs199422251GRCh37Chr X, 154001520: 154001520
40DKC1NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr)single nucleotide variantPathogenicrs199422252GRCh37Chr X, 154002877: 154002877
41DKC1NM_001363.4(DKC1): c.115A> G (p.Lys39Glu)single nucleotide variantPathogenicrs121912296GRCh37Chr X, 153993749: 153993749
42DKC1NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro)single nucleotide variantPathogenicrs199422253GRCh37Chr X, 154002914: 154002914
43DKC1NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg)single nucleotide variantPathogenicrs121912299GRCh37Chr X, 154002925: 154002925
44DKC1NM_001363.4(DKC1): c.121G> A (p.Glu41Lys)single nucleotide variantPathogenicrs121912302GRCh37Chr X, 153993755: 153993755
45DKC1NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile)single nucleotide variantPathogenicrs199422254GRCh37Chr X, 154002944: 154002944
46DKC1NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu)single nucleotide variantPathogenicrs121912289GRCh37Chr X, 154002947: 154002947
47DKC1NM_001363.4(DKC1): c.127A> G (p.Lys43Glu)single nucleotide variantPathogenicrs199422243GRCh37Chr X, 153993761: 153993761
48DKC1DKC1: c.-142C> Gsingle nucleotide variantPathogenicrs199422241GRCh37Chr X, 153991099: 153991099
49DKC1NM_001363.4(DKC1): c.194G> C (p.Arg65Thr)single nucleotide variantPathogenicrs121912301GRCh37Chr X, 153994204: 153994204
50DKC1NM_001363.4(DKC1): c.196A> G (p.Thr66Ala)single nucleotide variantPathogenicrs121912297GRCh37Chr X, 153994206: 153994206
51DKC1NM_001363.4(DKC1): c.200C> T (p.Thr67Ile)single nucleotide variantPathogenicrs199422244GRCh37Chr X, 153994210: 153994210
52DKC1NM_001363.4(DKC1): c.204C> A (p.His68Gln)single nucleotide variantPathogenicrs199422245GRCh37Chr X, 153994214: 153994214
53DKC1NM_001363.4(DKC1): c.29C> T (p.Pro10Leu)single nucleotide variantPathogenicrs199422242GRCh37Chr X, 153993186: 153993186
54DKC1NM_001363.4(DKC1): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs121912303GRCh37Chr X, 153991245: 153991245
55DKC1NM_001363.4(DKC1): c.838A> C (p.Ser280Arg)single nucleotide variantPathogenicrs146700772GRCh37Chr X, 153997508: 153997508
56DKC1NM_001363.4(DKC1): c.911G> A (p.Ser304Asn)single nucleotide variantPathogenicrs199422247GRCh37Chr X, 153997581: 153997581
57DKC1NM_001363.4(DKC1): c.91C> G (p.Gln31Glu)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
58DKC1NM_001363.4(DKC1): c.941A> G (p.Lys314Arg)single nucleotide variantPathogenicrs199422248GRCh37Chr X, 153999059: 153999059
59DKC1NM_001363.4(DKC1): c.949C> G (p.Leu317Val)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
60DKC1NM_001363.4(DKC1): c.949C> T (p.Leu317Phe)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
61DKC1NM_001363.4(DKC1): c.961C> G (p.Leu321Val)single nucleotide variantPathogenicGRCh37Chr X, 153999079: 153999079
62DKC1NM_001363.4(DKC1): c.965G> A (p.Arg322Gln)single nucleotide variantPathogenicrs121912291GRCh37Chr X, 153999083: 153999083
63TERTTERT: c.1710G> Y (p.Lys570Asn)single nucleotide variantPathogenic
64TERTNM_198253.2(TERT): c.2029G> T (p.Gly677Cys)single nucleotide variantPathogenicrs199422296GRCh37Chr 5, 1279507: 1279507
65TERTNM_198253.2(TERT): c.2045G> A (p.Gly682Asp)single nucleotide variantPathogenicrs199422295GRCh37Chr 5, 1279491: 1279491
66TERTNM_198253.2(TERT): c.2110C> T (p.Pro704Ser)single nucleotide variantPathogenicrs199422297GRCh37Chr 5, 1279426: 1279426
67TERTNM_198253.2(TERT): c.2162C> G (p.Pro721Arg)single nucleotide variantPathogenicrs199422299GRCh37Chr 5, 1278880: 1278880
68TERTNM_198253.2(TERT): c.2177C> T (p.Thr726Met)single nucleotide variantPathogenicrs149566858GRCh37Chr 5, 1278865: 1278865
69TERTNM_198253.2(TERT): c.2935C> T (p.Arg979Trp)single nucleotide variantPathogenicrs199422305GRCh37Chr 5, 1260624: 1260624
70TERCNR_001566.1(TERC): n.-240_-239delCTdeletionPathogenicrs199422255GRCh37Chr 3, 169483087: 169483088
71TERCNR_001566.1(TERC): n.100T> Asingle nucleotide variantPathogenicrs199422269GRCh37Chr 3, 169482749: 169482749
72TERCNR_001566.1(TERC): n.143G> Asingle nucleotide variantPathogenicrs199422274GRCh37Chr 3, 169482706: 169482706
73TERCNR_001566.1(TERC): n.216_229delGGCGGGTCGCCTGCdeletionPathogenicrs199422278GRCh37Chr 3, 169482620: 169482633
74TERCNR_001566.1(TERC): n.228G> Asingle nucleotide variantPathogenicrs141686314GRCh37Chr 3, 169482621: 169482621
75TERCNR_001566.1(TERC): n.2G> Csingle nucleotide variantPathogenicrs199422257GRCh37Chr 3, 169482847: 169482847
76TERCNR_001566.1(TERC): n.35C> Tsingle nucleotide variantPathogenicrs199422260GRCh37Chr 3, 169482814: 169482814
77TERCNR_001566.1(TERC): n.37A> Gsingle nucleotide variantPathogenicrs199422261GRCh37Chr 3, 169482812: 169482812
78TERCNR_001566.1(TERC): n.410C> Gsingle nucleotide variantPathogenicrs199422286GRCh37Chr 3, 169482439: 169482439
79TERCNR_001566.1(TERC): n.48A> Gsingle nucleotide variantPathogenicrs199422262GRCh37Chr 3, 169482801: 169482801
80TERCNR_001566.1(TERC): n.52_55delCTAAdeletionPathogenicrs199422263GRCh37Chr 3, 169482794: 169482797
81TERCNR_001566.1(TERC): n.53_87del35deletionPathogenicrs199422264GRCh37Chr 3, 169482762: 169482796
82TERCNR_001566.1(TERC): n.79delCdeletionPathogenicrs199422266GRCh37Chr 3, 169482770: 169482770
83TERCNR_001566.1(TERC): n.96_97delCTdeletionPathogenicrs199422267GRCh37Chr 3, 169482752: 169482753
84NR_001566.1(TERC): n.-2660_316del2976deletionPathogenicGRCh37Chr 3, 169482533: 169485508
85WRAP53NM_018081.2(WRAP53): c.1303G> A (p.Gly435Arg)single nucleotide variantPathogenicrs281865550GRCh37Chr 17, 7606345: 7606345
86NM_018081.2(WRAP53): c.492C> A (p.Phe164Leu)single nucleotide variantPathogenicrs281865547GRCh37Chr 17, 7592602: 7592602
87NM_032957.4(RTEL1): c.2288G> T (p.Gly763Val)single nucleotide variantPathogenicrs398123016GRCh37Chr 20, 62321514: 62321514
88RTEL1: c.2402G> A (p.p.Arg801His)single nucleotide variantPathogenicrs201540674GRCh37Chr 20, 62326972: 62326972
89NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile)single nucleotide variantPathogenicrs370343781GRCh37Chr 20, 62319118: 62319118
90NM_032957.4(RTEL1): c.2992C> T (p.Arg998Ter)single nucleotide variantPathogenicrs398123017GRCh37Chr 20, 62324564: 62324564
91NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp)single nucleotide variantPathogenicrs398123018GRCh37Chr 20, 62324513: 62324513
92NM_032957.4(RTEL1): c.823G> A (p.Glu275Lys)single nucleotide variantPathogenicrs398123019GRCh37Chr 20, 62303960: 62303960
93NOP10NM_018648.3(NOP10): c.100C> T (p.Arg34Trp)single nucleotide variantPathogenicrs121908092GRCh37Chr 15, 34634264: 34634264
94NHP2NM_017838.3(NHP2): c.415T> C (p.Tyr139His)single nucleotide variantPathogenicrs121908089GRCh37Chr 5, 177576761: 177576761
95NHP2NM_017838.3(NHP2): c.376G> A (p.Val126Met)single nucleotide variantPathogenicrs121908090GRCh37Chr 5, 177576800: 177576800
96NHP2NM_017838.3(NHP2): c.460T> A (p.Ter154Arg)single nucleotide variantPathogenicrs121908091GRCh37Chr 5, 177576716: 177576716
97TINF2NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)single nucleotide variantPathogenicrs121918543GRCh37Chr 14, 24709848: 24709848
98TINF2NM_001099274.1(TINF2): c.845G> A (p.Arg282His)single nucleotide variantPathogenicrs121918544GRCh37Chr 14, 24709841: 24709841
99TINF2NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
100TINF2NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)single nucleotide variantPathogenicrs121918545GRCh37Chr 14, 24709842: 24709842
101RTEL1: c.3724+78T> Csingle nucleotide variantPathogenicGRCh37Chr 20, 62326911: 62326911
102NM_016434.3(RTEL1): c.2097C> G (p.Ile699Met)single nucleotide variantPathogenicrs398123048GRCh37Chr 20, 62321174: 62321174
103NM_016434.3(RTEL1): c.2233G> A (p.Val745Met)single nucleotide variantPathogenicrs398123049GRCh37Chr 20, 62321531: 62321531
104NM_016434.3(RTEL1): c.2141+5G> Asingle nucleotide variantPathogenicrs398123050GRCh37Chr 20, 62321223: 62321223
105NM_032957.4(RTEL1): c.1845G> T (p.Glu615Asp)single nucleotide variantPathogenicrs398123051GRCh37Chr 20, 62319931: 62319931
106TERCNR_001566.1(TERC): n.374_1194del821deletionPathogenicGRCh37Chr 3, 169481655: 169482475
107TERCNR_001566.1(TERC): n.408C> Gsingle nucleotide variantPathogenicrs199422284GRCh37Chr 3, 169482441: 169482441
108TERCNR_001566.1(TERC): n.107_108delGCinsAGindelPathogenicrs199476393GRCh37Chr 3, 169482741: 169482742

Cosmic variations for Dyskeratosis Congenita:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
29.9NOP10, DKC1, NHP2
Show member pathways
Show member pathways
Show member pathways

Compounds for genes affiliated with Dyskeratosis Congenita

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43Novoseek, 24HMDB, 12DrugBank
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Compounds related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1adpribose439.9TINF2, TERC, TERT
2uridine43 24 1211.8TERC, DKC1, NOP10
3lipofectamine439.8TERC, TERT
4tin(2+)439.7ACD, TINF2, TERC, TERT
5pseudouridine43 2410.7NOP10, DKC1, NHP2, TERC

GO Terms for genes affiliated with Dyskeratosis Congenita

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Cellular components related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

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
6cellular_componentGO:00055758.0MAGEA12, MAGEA4, MAGEA8, MAGEA6
7nucleusGO:00056347.7RTEL1, USB1, WRAP53, TINF2, DKC1, MAGEA2B

Biological processes related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1telomere formation via telomeraseGO:003220310.2WRAP53, TERT
2telomere assemblyGO:003220210.2TINF2, ACD
3positive regulation of telomerase activityGO:005197310.1ACD, WRAP53
4protein localization to chromosome, telomeric regionGO:007019810.1TINF2, ACD
5negative regulation of telomere maintenance via telomeraseGO:003221110.0TINF2, ACD
6telomere maintenance via telomeraseGO:000700410.0DKC1, TERT
7pseudouridine synthesisGO:00015229.8DKC1, NOP10
8telomere maintenanceGO:00007239.6ACD, DKC1, TINF2, RTEL1, TERT
9biological_processGO:00081508.3MAGEA12, MAGEA4, MAGEA8, MAGEA6

Molecular functions related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:000372010.1DKC1, TERT
2telomeric DNA bindingGO:004216210.0TINF2, TERT
3snoRNA bindingGO:00305159.7NHP2, NOP10
4protein bindingGO:00055156.5RTEL1, WRAP53, TINF2, DKC1, ACD, MAGEA6

Products for genes affiliated with Dyskeratosis Congenita

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
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Sources for Dyskeratosis Congenita

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet