DC
MCID: DYS007
MIFTS: 68

Dyskeratosis Congenita (DC)

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 12 76 24 53 25 59 37 29 55 6 44 15 40 73
Hoyeraal-Hreidarsson Syndrome 53 59 37 13 55 73
Hoyeraal Hreidarsson Syndrome 53 29 6
Zinsser-Cole-Engman Syndrome 24 25
Zinsser-Engman-Cole Syndrome 53 59
Dkc 53 59
Dc 53 59
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 53
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome 59
Cerebellar Hypoplasia with Pancytopenia 53
X-Linked Dyskeratosis Congenita 73

Characteristics:

Orphanet epidemiological data:

59
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;

GeneReviews:

24
Penetrance The penetrance of dc and dc-associated medical complications is not well understood. due to the variability between individuals (even within the same family) and the observation that medical complications may increase with age, penetrance may appear incomplete, but additional studies are needed...

Classifications:



Summaries for Dyskeratosis Congenita

NIH Rare Diseases : 53 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, that resembles the appearance of lace; 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 pulmonary fibrosis, bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals.  This condition is caused by pathogenic variants (mutations) in a number of different genes known to affect the length of the telomeres. Teleomeres are structures found at the ends of chromosomes that protect the chromosomes from sticking together or breaking down. In most cells, the telomeres get shorter over time and eventually tell the cell to stop dividing. The genes known to be involved in dyskeratosis congenita include DKC1, TERC, TERT, TINF2, ACD, CTC1, NHP2, NOP10, PARN, RTEL1, and WRAP53. Approximately 70% of those who meet the clinical diagnostic criteria for dyskeratosis congenita have a mutation in one of these genes. How dyskeratosis congenita is inherited depends on which gene is involved. Treatment is aimed at addressing the symptoms present in each individual. 

MalaCards based summary : Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to dyskeratosis congenita, x-linked and dyskeratosis congenita, autosomal recessive 1, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Cell Cycle, Mitotic. The drugs Vidarabine and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are diabetes mellitus and hyperhidrosis

Disease Ontology : 12 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 : 25 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 : 76 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...

GeneReviews: NBK22301

Related Diseases for Dyskeratosis Congenita

Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Recessive 1
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive

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

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 34.6 DKC1 NOP10 TERC WRAP53
2 dyskeratosis congenita, autosomal recessive 1 34.4 NHP2 NOP10 TERT
3 dyskeratosis congenita, autosomal recessive 3 34.4 TP53 WRAP53
4 dyskeratosis congenita, autosomal dominant 1 34.3 DKC1 TERC TERT TINF2
5 dyskeratosis congenita autosomal dominant 34.1 ACD RTEL1 TERC TERT TINF2
6 dyskeratosis congenita autosomal recessive 33.8 ACD NHP2 NOP10 PARN RTEL1 TERT
7 revesz syndrome 33.8 CTC1 DKC1 NOP10 TERC TERT TINF2
8 congenital intrauterine infection-like syndrome 32.3 DKC1 TERC
9 pancytopenia 30.9 CSF2 DKC1 TERT
10 pulmonary fibrosis 30.9 PARN RTEL1 TERC TERT TINF2
11 inherited bone marrow failure syndromes 30.6 TERC TERT
12 aplastic anemia 30.6 CSF2 DKC1 GAR1 NHP2 NOP10 RTEL1
13 oral leukoplakia 30.1 TINF2 TP53
14 dyskeratosis congenita, autosomal dominant 2 12.7
15 dyskeratosis congenita, autosomal recessive 5 12.7
16 dyskeratosis congenita, autosomal dominant 6 12.7
17 dyskeratosis congenita, autosomal recessive 2 12.7
18 dyskeratosis congenita, autosomal dominant 3 12.7
19 dyskeratosis congenita, autosomal recessive 6 12.6
20 cerebroretinal microangiopathy with calcifications and cysts 1 11.2
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.2
22 thymic dysplasia 10.5
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.5
24 hematopoietic stem cell transplantation 10.5
25 fanconi anemia, complementation group a 10.4
26 leukoplakia 10.4
27 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.3
28 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.3
29 severe combined immunodeficiency 10.3
30 pontocerebellar hypoplasia 10.3
31 primary microcephaly 10.3
32 torch syndrome 10.3 DKC1 TERC
33 neutropenia 10.3
34 pneumonia 10.3
35 bladder papillary transitional cell neoplasm 10.3 TERT TP53
36 urinary tract papillary transitional cell benign neoplasm 10.2 TERT TP53
37 pulmonary fibrosis, idiopathic 10.2 PARN RTEL1 TERC TERT
38 myelodysplastic syndrome 10.2
39 portal hypertension 10.2
40 adenocarcinoma 10.2
41 retinal telangiectasia 10.2 CTC1 TINF2
42 adamantinoma of long bones 10.1 CSF2 TERT TP53 WRAP53
43 graft-versus-host disease 10.1
44 limbal stem cell deficiency 10.1
45 thrombocytopenia 10.1
46 angiosarcoma 10.1
47 exudative vitreoretinopathy 10.1
48 cytomegalovirus retinitis 10.1
49 pneumocystosis 10.1
50 hypothyroidism 10.1

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



Diseases related to Dyskeratosis Congenita

Symptoms & Phenotypes for Dyskeratosis Congenita

Human phenotypes related to Dyskeratosis Congenita:

59 32 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
2 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
3 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002514
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
8 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
9 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
10 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 aseptic necrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010885
12 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
13 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
14 short stature 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0004322
15 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
16 anemia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001903
17 bone marrow hypocellularity 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0005528
18 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
19 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0008404
20 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
21 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001511
22 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
23 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
24 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
25 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001873
26 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
27 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
28 premature graying of hair 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002216
29 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
30 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
31 hypoplasia of the maxilla 59 32 occasional (7.5%) Occasional (29-5%) HP:0000327
32 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
33 cellular immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0005374
34 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
35 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
36 anorectal anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0012732
37 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
38 periodontitis 59 32 frequent (33%) Frequent (79-30%) HP:0000704
39 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
40 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
41 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
42 tracheoesophageal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0002575
43 urethral stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0008661
44 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
45 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
46 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
47 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001928
48 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
49 white hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0011364
50 displacement of the external urethral meatus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100627

UMLS symptoms related to Dyskeratosis Congenita:


onychomadesis

MGI Mouse Phenotypes related to Dyskeratosis Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ACD CSF2 CTC1 DCLRE1B DKC1 NHP2
2 neoplasm MP:0002006 9.1 ACD CSF2 DKC1 RTEL1 TERT TP53

Drugs & Therapeutics for Dyskeratosis Congenita

Drugs for Dyskeratosis Congenita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vidarabine Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 24356-66-9 32326 21704
2
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Not Applicable 216503-57-0
5
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
8
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
9
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
10 Hormone Antagonists Phase 2, Phase 3,Phase 1
11 Antiviral Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
13 Antineoplastic Agents, Hormonal Phase 2, Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable,Early Phase 1
16 Hormones Phase 2, Phase 3,Phase 1
17 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
18 Methylprednisolone acetate Phase 2, Phase 3
19 Thymoglobulin Phase 2, Phase 3,Not Applicable,Early Phase 1
20 Antilymphocyte Serum Phase 2, Phase 3,Not Applicable
21 glucocorticoids Phase 2, Phase 3
22 Gastrointestinal Agents Phase 2, Phase 3
23 Anti-Infective Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
24 Alkylating Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
25 Anti-Inflammatory Agents Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
27 Prednisolone acetate Phase 2, Phase 3
28 Antimetabolites, Antineoplastic Phase 2, Phase 3,Not Applicable,Early Phase 1
29 Antimetabolites Phase 2, Phase 3,Not Applicable,Early Phase 1
30 Autonomic Agents Phase 2, Phase 3
31 Antiemetics Phase 2, Phase 3
32 Neuroprotective Agents Phase 2, Phase 3
33 Peripheral Nervous System Agents Phase 2, Phase 3
34 Protective Agents Phase 2, Phase 3
35
Lenograstim Approved, Investigational Phase 2 135968-09-1
36
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
40
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
41
leucovorin Approved Phase 2 58-05-9 6006 143
42
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
43
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
44
Hydroxyurea Approved Phase 2 127-07-1 3657
45
Danazol Approved Phase 1, Phase 2,Phase 2 17230-88-5 28417
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
47
Treosulfan Investigational Phase 2 299-75-2 9296
48 Adjuvants, Immunologic Phase 2
49 Antitubercular Agents Phase 2
50 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
2 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
3 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
5 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 Evaluating Efficacy and Safety of Danazol in Severe Hematologic or Pulmonary Disease Related to Telomeropathy Not yet recruiting NCT03710356 Phase 1, Phase 2 Danazol 200 MG
7 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
8 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
9 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
10 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
11 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Not Applicable Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
12 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
15 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
16 Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders Active, not recruiting NCT00856388 Not Applicable fludarabine phosphate;melphalan
17 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Dyskeratosis Congenita

Cochrane evidence based reviews: dyskeratosis congenita

Genetic Tests for Dyskeratosis Congenita

Genetic tests related to Dyskeratosis Congenita:

# Genetic test Affiliating Genes
1 Hoyeraal Hreidarsson Syndrome 29 DKC1
2 Dyskeratosis Congenita 29

Anatomical Context for Dyskeratosis Congenita

MalaCards organs/tissues related to Dyskeratosis Congenita:

41
Skin, Bone, Bone Marrow, Liver, T Cells, Lung, B Cells

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 490)
# Title Authors Year
1
Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita. ( 30259646 )
2019
2
A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. ( 29742735 )
2018
3
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. ( 29581185 )
2018
4
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. ( 29853525 )
2018
5
Reconsidering the indication of haematopoietic stem cell transplantation for dyskeratosis congenita. ( 29978455 )
2018
6
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. ( 29749397 )
2018
7
Dyskeratosis Congenita ( 29939532 )
2018
8
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants. ( 29696773 )
2018
9
A regulatory loop connecting WNT signaling and telomere capping: possible therapeutic implications for dyskeratosis congenita. ( 29722029 )
2018
10
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. ( 29801475 )
2018
11
Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita. ( 29984823 )
2018
12
Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita. ( 30047419 )
2018
13
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. ( 30064976 )
2018
14
Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review. ( 30106361 )
2018
15
Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita. ( 30170046 )
2018
16
Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association. ( 30472699 )
2018
17
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. ( 28923296 )
2017
18
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. ( 28643950 )
2017
19
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
20
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
21
Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita. ( 29422759 )
2017
22
Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita. ( 29042228 )
2017
23
Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: analysis of oxidative stress in lung fibroblasts. ( 28092351 )
2017
24
Dyskeratosis Congenita. ( 28402761 )
2017
25
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
26
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. ( 28805708 )
2017
27
Clinical heterogeneity in a family with<i>DKC1</i>mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. ( 29081935 )
2017
28
Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology. ( 28699608 )
2017
29
p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita. ( 28757166 )
2017
30
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. ( 28834235 )
2017
31
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. ( 29178645 )
2017
32
Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases. ( 28538506 )
2017
33
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
34
Dyskeratosis congenita associated with leukoplakia of the tongue. ( 26778687 )
2016
35
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. ( 26845033 )
2016
36
Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. ( 27622320 )
2016
37
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
38
Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation. ( 27408398 )
2016
39
Dyskeratosis congenita presenting with dysphagia. ( 27559501 )
2016
40
Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita. ( 27904106 )
2016
41
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. ( 27065378 )
2016
42
Survival after Hematopoietic Stem Cell Transplant in PatientsA with Dyskeratosis Congenita: Systematic Review ofA the Literature. ( 26968789 )
2016
43
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita. ( 27468421 )
2016
44
Reduced intensity conditioning regimen with fludarabine, cyclophosphamide, low dose TBI and alemtuzumab leading to successful unrelated umbilical cord stem cell engraftment and survival in two children with dyskeratosis congenita. ( 26808569 )
2016
45
Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report. ( 27015183 )
2016
46
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. ( 27612988 )
2016
47
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. ( 27607446 )
2016
48
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. ( 26859482 )
2016
49
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
50
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. ( 26909595 )
2016

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show top 50) (show all 420)
# Gene Variation Type Significance SNP ID Assembly Location
1 DKC1 NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del) deletion Likely pathogenic rs137854489 GRCh37 Chromosome X, 153993743: 153993745
2 DKC1 NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del) deletion Likely pathogenic rs137854489 GRCh38 Chromosome X, 154765468: 154765470
3 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
4 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh38 Chromosome X, 154773152: 154773152
5 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
6 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Likely pathogenic rs121912305 GRCh38 Chromosome X, 154766313: 154766313
7 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
8 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh38 Chromosome X, 154765472: 154765472
9 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh37 Chromosome 17, 8140758: 8140761
10 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh38 Chromosome 17, 8237440: 8237443
11 CTC1 NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh37 Chromosome 17, 8133261: 8133261
12 CTC1 NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh38 Chromosome 17, 8229943: 8229943
13 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh37 Chromosome 17, 8133714: 8133714
14 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh38 Chromosome 17, 8230396: 8230396
15 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh37 Chromosome 14, 24709952: 24709952
16 TINF2 NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs142777869 GRCh38 Chromosome 14, 24240746: 24240746
17 DKC1 NM_001363.4(DKC1): c.838A> C (p.Ser280Arg) single nucleotide variant Uncertain significance rs146700772 GRCh37 Chromosome X, 153997508: 153997508
18 DKC1 NM_001363.4(DKC1): c.838A> C (p.Ser280Arg) single nucleotide variant Uncertain significance rs146700772 GRCh38 Chromosome X, 154769233: 154769233
19 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
20 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh38 Chromosome 17, 8229946: 8229948
21 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh37 Chromosome 20, 62326972: 62326972
22 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh38 Chromosome 20, 63695619: 63695619
23 RTEL1 NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile) single nucleotide variant Likely pathogenic rs370343781 GRCh37 Chromosome 20, 62319118: 62319118
24 RTEL1 NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile) single nucleotide variant Likely pathogenic rs370343781 GRCh38 Chromosome 20, 63687765: 63687765
25 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh37 Chromosome 20, 62324564: 62324564
26 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh38 Chromosome 20, 63693211: 63693211
27 RTEL1 NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp) single nucleotide variant Likely pathogenic rs398123018 GRCh37 Chromosome 20, 62324513: 62324513
28 RTEL1 NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp) single nucleotide variant Likely pathogenic rs398123018 GRCh38 Chromosome 20, 63693160: 63693160
29 RTEL1 NM_032957.4(RTEL1): c.3028C> T (p.Arg1010Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373740199 GRCh37 Chromosome 20, 62324600: 62324600
30 RTEL1 NM_032957.4(RTEL1): c.3028C> T (p.Arg1010Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373740199 GRCh38 Chromosome 20, 63693247: 63693247
31 CTC1 NM_025099.5(CTC1): c.1383G> A (p.Gln461=) single nucleotide variant Benign rs145192682 GRCh37 Chromosome 17, 8138427: 8138427
32 CTC1 NM_025099.5(CTC1): c.1383G> A (p.Gln461=) single nucleotide variant Benign rs145192682 GRCh38 Chromosome 17, 8235109: 8235109
33 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh38 Chromosome 16, 14582225: 14582225
34 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh37 Chromosome 16, 14676082: 14676082
35 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh37 Chromosome 16, 14687157: 14687157
36 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh38 Chromosome 16, 14593300: 14593300
37 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh37 Chromosome 16, 14687213: 14687213
38 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh38 Chromosome 16, 14593356: 14593356
39 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh38 Chromosome 16, 14608274: 14608277
40 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh37 Chromosome 16, 14702131: 14702134
41 CTC1 NM_025099.5(CTC1): c.2192G> A (p.Arg731Gln) single nucleotide variant Uncertain significance rs201891953 GRCh37 Chromosome 17, 8135414: 8135414
42 CTC1 NM_025099.5(CTC1): c.2192G> A (p.Arg731Gln) single nucleotide variant Uncertain significance rs201891953 GRCh38 Chromosome 17, 8232096: 8232096
43 CTC1 NM_025099.5(CTC1): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs201592575 GRCh37 Chromosome 17, 8140790: 8140790
44 CTC1 NM_025099.5(CTC1): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs201592575 GRCh38 Chromosome 17, 8237472: 8237472
45 CTC1 NM_025099.5(CTC1): c.477G> T (p.Leu159=) single nucleotide variant Benign/Likely benign rs200658590 GRCh37 Chromosome 17, 8141519: 8141519
46 CTC1 NM_025099.5(CTC1): c.477G> T (p.Leu159=) single nucleotide variant Benign/Likely benign rs200658590 GRCh38 Chromosome 17, 8238201: 8238201
47 CTC1 NM_025099.5(CTC1): c.248G> C (p.Ser83Thr) single nucleotide variant Benign/Likely benign rs78870822 GRCh37 Chromosome 17, 8141897: 8141897
48 CTC1 NM_025099.5(CTC1): c.248G> C (p.Ser83Thr) single nucleotide variant Benign/Likely benign rs78870822 GRCh38 Chromosome 17, 8238579: 8238579
49 DKC1 NM_001363.4(DKC1): c.1512_1514dupGAA (p.Lys505_Ala506insLys) duplication Benign rs797045523 GRCh38 Chromosome X, 154776834: 154776836
50 DKC1 NM_001363.4(DKC1): c.1512_1514dupGAA (p.Lys505_Ala506insLys) duplication Benign rs797045523 GRCh37 Chromosome X, 154005109: 154005111

Expression for Dyskeratosis Congenita

Search GEO for disease gene expression data for Dyskeratosis Congenita.

Pathways for Dyskeratosis Congenita

Pathways related to Dyskeratosis Congenita according to KEGG:

37
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

GO Terms for Dyskeratosis Congenita

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.97 ACD CTC1 DCLRE1B TERT TINF2 WRAP53
2 nuclear body GO:0016604 9.93 ACD DCLRE1B NOP10 TINF2 TP53 WRAP53
3 Cajal body GO:0015030 9.88 DKC1 GAR1 NHP2 NOP10 TERC WRAP53
4 nuclear chromosome, telomeric region GO:0000784 9.87 ACD CTC1 DCLRE1B GAR1 NHP2 TERT
5 box H/ACA snoRNP complex GO:0031429 9.67 DKC1 GAR1 NHP2 NOP10
6 nuclear telomere cap complex GO:0000783 9.61 ACD TERT TINF2
7 small nucleolar ribonucleoprotein complex GO:0005732 9.56 NHP2 NOP10
8 box H/ACA scaRNP complex GO:0072589 9.56 DKC1 GAR1 NHP2 NOP10
9 chromosome, telomeric region GO:0000781 9.56 ACD CTC1 DCLRE1B RTEL1 TERC TERT
10 shelterin complex GO:0070187 9.55 ACD TINF2
11 box H/ACA telomerase RNP complex GO:0090661 9.55 DKC1 GAR1 NHP2 NOP10 TERC
12 telomerase catalytic core complex GO:0000333 9.51 TERC TERT
13 telomerase holoenzyme complex GO:0005697 9.17 DKC1 GAR1 NHP2 NOP10 TERC TERT
14 nucleus GO:0005634 10.38 ACD CTC1 DCLRE1B DKC1 GAR1 NHP2
15 nucleoplasm GO:0005654 10.28 ACD DCLRE1B DKC1 GAR1 NHP2 NOP10
16 nucleolus GO:0005730 10.13 DKC1 GAR1 NHP2 NOP10 PARN SNORA36A

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.89 DKC1 GAR1 NHP2 NOP10
2 cellular response to hypoxia GO:0071456 9.82 TERC TERT TP53
3 ribosome biogenesis GO:0042254 9.81 DKC1 GAR1 NHP2 NOP10
4 positive regulation of telomerase activity GO:0051973 9.73 ACD DKC1 PARN WRAP53
5 positive regulation of telomere maintenance via telomerase GO:0032212 9.71 ACD DKC1 PARN
6 telomere capping GO:0016233 9.71 ACD CTC1 DCLRE1B TINF2
7 negative regulation of telomere maintenance via telomerase GO:0032211 9.67 ACD CTC1 TINF2
8 negative regulation of cellular senescence GO:2000773 9.65 TERC TERT
9 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.65 DKC1 NHP2 NOP10
10 positive regulation of establishment of protein localization to telomere GO:1904851 9.64 DKC1 WRAP53
11 protein localization to chromosome, telomeric region GO:0070198 9.63 ACD TINF2
12 telomere maintenance via telomere lengthening GO:0010833 9.63 CTC1 DCLRE1B
13 replicative senescence GO:0090399 9.63 CTC1 TERT TP53
14 protection from non-homologous end joining at telomere GO:0031848 9.62 ACD DCLRE1B
15 establishment of protein localization to telomere GO:0070200 9.61 ACD TERT
16 mRNA pseudouridine synthesis GO:1990481 9.61 DKC1 TRUB1
17 scaRNA localization to Cajal body GO:0090666 9.6 DKC1 WRAP53
18 mitotic telomere maintenance via semi-conservative replication GO:1902990 9.58 ACD RTEL1
19 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 DKC1 PARN
20 telomerase RNA stabilization GO:0090669 9.57 DKC1 PARN
21 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.56 GAR1 NOP10
22 RNA modification GO:0009451 9.56 DKC1 PARN TRUB1 TRUB2
23 telomere assembly GO:0032202 9.55 ACD TINF2
24 telomere maintenance GO:0000723 9.55 ACD CTC1 DCLRE1B RTEL1 TERT
25 rRNA pseudouridine synthesis GO:0031118 9.54 DKC1 NHP2 NOP10
26 box H/ACA snoRNA 3'-end processing GO:0000495 9.52 DKC1 PARN
27 snRNA pseudouridine synthesis GO:0031120 9.5 DKC1 NHP2 NOP10
28 pseudouridine synthesis GO:0001522 9.26 DKC1 GAR1 NOP10 TRUB2
29 telomere maintenance via telomerase GO:0007004 9.17 DKC1 GAR1 NHP2 NOP10 TERC TERT
30 cellular response to DNA damage stimulus GO:0006974 10.02 CTC1 DCLRE1B RTEL1 TP53 WRAP53

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.81 ACD DCLRE1B TERC WRAP53
2 isomerase activity GO:0016853 9.71 DKC1 TRUB1 TRUB2
3 nuclease activity GO:0004518 9.7 DCLRE1B PARN USB1
4 chaperone binding GO:0051087 9.67 TERT TP53 WRAP53
5 DNA polymerase binding GO:0070182 9.54 ACD RTEL1 TERC
6 pseudouridine synthase activity GO:0009982 9.5 DKC1 TRUB1 TRUB2
7 RNA-directed DNA polymerase activity GO:0003964 9.46 TERC TERT
8 telomeric DNA binding GO:0042162 9.46 ACD CTC1 TERT TINF2
9 telomerase RNA reverse transcriptase activity GO:0003721 9.43 TERC TERT
10 telomerase activity GO:0003720 9.43 DKC1 TERC TERT
11 box H/ACA snoRNA binding GO:0034513 9.26 DKC1 GAR1 NHP2 NOP10
12 telomerase RNA binding GO:0070034 9.17 DKC1 GAR1 NHP2 NOP10 PARN TERT
13 protein binding GO:0005515 10.41 ACD CSF2 CTC1 DCLRE1B DKC1 GAR1
14 RNA binding GO:0003723 10.06 DKC1 GAR1 NHP2 NOP10 PARN TERT

Sources for Dyskeratosis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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