MCID: DYS007
MIFTS: 67

Dyskeratosis Congenita

Categories: Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Immune diseases, Genetic 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, autosomal recessive 1 and dyskeratosis congenita, autosomal recessive 3, 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 alemtuzumab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are abnormality of female internal genitalia and abnormality of the testis

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 117)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 1 35.2 NHP2 NOP10 TERT
2 dyskeratosis congenita, autosomal recessive 3 35.2 TP53 WRAP53
3 dyskeratosis congenita, autosomal dominant 1 35.2 TERC TERT TINF2
4 dyskeratosis congenita, x-linked 35.1 DKC1 SNORA36A
5 dyskeratosis congenita autosomal dominant 34.5 ACD DKC1 RTEL1 TERC TERT TINF2
6 revesz syndrome 34.4 DKC1 TINF2
7 dyskeratosis congenita autosomal recessive 33.9 ACD NHP2 NOP10 PARN RTEL1 TERT
8 congenital intrauterine infection-like syndrome 33.2 DKC1 TERC
9 pulmonary fibrosis 31.4 PARN RTEL1 TERC TERT TINF2
10 pancytopenia 31.4 CSF2 DKC1 TERT
11 inherited bone marrow failure syndromes 31.4 TERC TERT
12 oral leukoplakia 30.6 TINF2 TP53
13 aplastic anemia 30.0 CSF2 DKC1 GAR1 NHP2 NOP10 RTEL1
14 myelodysplastic syndrome 29.8 CSF2 TERC TERT TP53
15 dyskeratosis congenita, autosomal dominant 2 12.6
16 dyskeratosis congenita, autosomal recessive 5 12.6
17 dyskeratosis congenita, autosomal dominant 6 12.5
18 dyskeratosis congenita, autosomal recessive 2 12.5
19 dyskeratosis congenita, autosomal dominant 3 12.5
20 dyskeratosis congenita, autosomal recessive 6 12.5
21 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.1
23 torch syndrome 10.9 DKC1 TERC
24 melanoma, cutaneous malignant 1 10.8 ACD TERT TP53
25 bladder papillary transitional cell neoplasm 10.8 TERT TP53
26 pulmonary fibrosis, idiopathic 10.8 PARN RTEL1 TERC TERT
27 urinary tract papillary transitional cell benign neoplasm 10.8 TERT TP53
28 retinal telangiectasia 10.7 CTC1 TINF2
29 adamantinoma of long bones 10.5 CSF2 TERT TP53 WRAP53
30 hematopoietic stem cell transplantation 10.4
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
32 retinitis 10.3
33 aging 10.3
34 leukoplakia 10.2
35 fanconi anemia, complementation group a 10.2
36 neutropenia 10.1
37 squamous cell carcinoma 10.1
38 pneumonia 10.1
39 hepatitis 10.1
40 portal hypertension 10.1
41 adenocarcinoma 10.1
42 pulmonary arteriovenous fistulas 10.0
43 graft-versus-host disease 10.0
44 limbal stem cell deficiency 10.0
45 thrombocytopenia 10.0
46 angiosarcoma 10.0
47 exudative vitreoretinopathy 10.0
48 cytomegalovirus retinitis 10.0
49 arteriovenous malformation 10.0
50 esophagitis 10.0

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 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
2 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
3 hypoplasia of the maxilla 59 32 occasional (7.5%) Occasional (29-5%) HP:0000327
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
6 abnormality of the eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000499
7 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
9 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
10 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
11 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
12 periodontitis 59 32 frequent (33%) Frequent (79-30%) HP:0000704
13 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
14 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
15 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
16 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
17 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
18 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
19 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
20 global developmental delay 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
21 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
22 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
23 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001511
24 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
25 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
26 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001873
27 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
28 anemia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001903
29 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001928
30 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
31 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
32 premature graying of hair 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002216
33 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
34 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002514
35 tracheoesophageal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0002575
36 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
37 neoplasm 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002664
38 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
39 oral leukoplakia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002745
40 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
41 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
42 short stature 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0004322
43 cellular immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0005374
44 bone marrow hypocellularity 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0005528
45 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
46 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
47 sparse hair 59 32 frequent (33%) Frequent (79-30%) HP:0008070
48 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0008404
49 urethral stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0008661
50 esophageal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0010450

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 TRUB2 WRAP53 ACD CSF2 CTC1 DCLRE1B
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 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3,Not Applicable 216503-57-0
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
3
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Vidarabine Approved, Investigational Phase 2, Phase 3,Not Applicable,Early Phase 1 24356-66-9 32326 21704
7 Alkylating Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
8 Antiemetics Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Antilymphocyte Serum Phase 2, Phase 3,Not Applicable
12 Antimetabolites Phase 2, Phase 3,Not Applicable,Early Phase 1
13 Antimetabolites, Antineoplastic Phase 2, Phase 3,Not Applicable,Early Phase 1
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable,Early Phase 1
15 Antineoplastic Agents, Hormonal Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Antiviral Agents Phase 2, Phase 3,Not Applicable,Early Phase 1
18 Autonomic Agents Phase 2, Phase 3
19 Gastrointestinal Agents Phase 2, Phase 3
20 glucocorticoids Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3,Phase 1
22 Hormones Phase 2, Phase 3,Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Neuroprotective Agents Phase 2, Phase 3
28 Peripheral Nervous System Agents Phase 2, Phase 3
29 Prednisolone acetate Phase 2, Phase 3
30 Prednisolone hemisuccinate Phase 2, Phase 3
31 Prednisolone phosphate Phase 2, Phase 3
32 Protective Agents Phase 2, Phase 3
33
Lenograstim Approved, Investigational Phase 2 135968-09-1
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
36
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
37
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
38
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
39
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
40
Hydroxyurea Approved Phase 2 127-07-1 3657
41
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
42
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
43
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
46
Treosulfan Investigational Phase 2 299-75-2 9296
47 Adjuvants, Immunologic Phase 2
48 Anti-Bacterial Agents Phase 2
49 Antibiotics, Antitubercular Phase 2
50 Antifungal Agents Phase 2

Interventional clinical trials:

(show all 16)
# 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 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
8 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
9 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
10 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Not Applicable Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
11 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
14 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
15 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
16 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, T Cells, Neutrophil, Testis, Pancreas

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 474)
# Title Authors Year
1
A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. ( 29742735 )
2018
2
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
3
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. ( 29853525 )
2018
4
Reconsidering the indication of haematopoietic stem cell transplantation for dyskeratosis congenita. ( 29978455 )
2018
5
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. ( 29749397 )
2018
6
Dyskeratosis Congenita ( 29939532 )
2018
7
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants. ( 29696773 )
2018
8
A regulatory loop connecting WNT signaling and telomere capping: possible therapeutic implications for dyskeratosis congenita. ( 29722029 )
2018
9
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. ( 29801475 )
2018
10
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. ( 28923296 )
2017
11
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. ( 28643950 )
2017
12
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
13
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
14
Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita. ( 29422759 )
2017
15
Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita. ( 29042228 )
2017
16
Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: analysis of oxidative stress in lung fibroblasts. ( 28092351 )
2017
17
Dyskeratosis Congenita. ( 28402761 )
2017
18
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
19
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. ( 28805708 )
2017
20
Clinical heterogeneity in a family with<i>DKC1</i>mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. ( 29081935 )
2017
21
Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology. ( 28699608 )
2017
22
p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita. ( 28757166 )
2017
23
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. ( 28834235 )
2017
24
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. ( 29178645 )
2017
25
Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases. ( 28538506 )
2017
26
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
27
Dyskeratosis congenita associated with leukoplakia of the tongue. ( 26778687 )
2016
28
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. ( 26845033 )
2016
29
Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. ( 27622320 )
2016
30
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
31
Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation. ( 27408398 )
2016
32
Dyskeratosis congenita presenting with dysphagia. ( 27559501 )
2016
33
Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita. ( 27904106 )
2016
34
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. ( 27065378 )
2016
35
Survival after Hematopoietic Stem Cell Transplant in PatientsA with Dyskeratosis Congenita: Systematic Review ofA the Literature. ( 26968789 )
2016
36
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita. ( 27468421 )
2016
37
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
38
Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report. ( 27015183 )
2016
39
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. ( 27612988 )
2016
40
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. ( 27607446 )
2016
41
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. ( 26859482 )
2016
42
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
43
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. ( 26909595 )
2016
44
A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism. ( 27376432 )
2016
45
Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita. ( 27545506 )
2016
46
A case report on a rare disease: dyskeratosis congenita. ( 25780486 )
2015
47
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. ( 26019357 )
2015
48
Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease. ( 26171129 )
2015
49
Dyskeratosis Congenita with Acute Pre B Cell Lymphoblastic Leukemia in a 10-year-old Girl. ( 25772941 )
2015
50
DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS. ( 27182588 )
2015

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6
(show top 50) (show all 312)
# 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 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
16 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh38 Chromosome 17, 8229946: 8229948
17 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh37 Chromosome 20, 62326972: 62326972
18 RTEL1 RTEL1: c.2402G> A (p.Arg801His) single nucleotide variant Pathogenic/Likely pathogenic rs201540674 GRCh38 Chromosome 20, 63695619: 63695619
19 RTEL1 NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile) single nucleotide variant Likely pathogenic rs370343781 GRCh37 Chromosome 20, 62319118: 62319118
20 RTEL1 NM_032957.4(RTEL1): c.1548G> T (p.Met516Ile) single nucleotide variant Likely pathogenic rs370343781 GRCh38 Chromosome 20, 63687765: 63687765
21 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh37 Chromosome 20, 62324564: 62324564
22 RTEL1 NM_016434.3(RTEL1): c.2920C> T (p.Arg974Ter) single nucleotide variant Pathogenic rs398123017 GRCh38 Chromosome 20, 63693211: 63693211
23 RTEL1 NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp) single nucleotide variant Likely pathogenic rs398123018 GRCh37 Chromosome 20, 62324513: 62324513
24 RTEL1 NM_032957.4(RTEL1): c.2941C> T (p.Arg981Trp) single nucleotide variant Likely pathogenic rs398123018 GRCh38 Chromosome 20, 63693160: 63693160
25 RTEL1 NM_032957.4(RTEL1): c.3028C> T (p.Arg1010Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373740199 GRCh37 Chromosome 20, 62324600: 62324600
26 RTEL1 NM_032957.4(RTEL1): c.3028C> T (p.Arg1010Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373740199 GRCh38 Chromosome 20, 63693247: 63693247
27 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh38 Chromosome 16, 14582225: 14582225
28 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh37 Chromosome 16, 14676082: 14676082
29 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh37 Chromosome 16, 14687157: 14687157
30 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh38 Chromosome 16, 14593300: 14593300
31 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh37 Chromosome 16, 14687213: 14687213
32 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh38 Chromosome 16, 14593356: 14593356
33 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh38 Chromosome 16, 14608274: 14608277
34 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh37 Chromosome 16, 14702131: 14702134
35 CTC1 NM_025099.5(CTC1): c.2192G> A (p.Arg731Gln) single nucleotide variant Uncertain significance rs201891953 GRCh37 Chromosome 17, 8135414: 8135414
36 CTC1 NM_025099.5(CTC1): c.2192G> A (p.Arg731Gln) single nucleotide variant Uncertain significance rs201891953 GRCh38 Chromosome 17, 8232096: 8232096
37 CTC1 NM_025099.5(CTC1): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs201592575 GRCh37 Chromosome 17, 8140790: 8140790
38 CTC1 NM_025099.5(CTC1): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs201592575 GRCh38 Chromosome 17, 8237472: 8237472
39 CTC1 NM_025099.5(CTC1): c.477G> T (p.Leu159=) single nucleotide variant Benign/Likely benign rs200658590 GRCh37 Chromosome 17, 8141519: 8141519
40 CTC1 NM_025099.5(CTC1): c.477G> T (p.Leu159=) single nucleotide variant Benign/Likely benign rs200658590 GRCh38 Chromosome 17, 8238201: 8238201
41 CTC1 NM_025099.5(CTC1): c.248G> C (p.Ser83Thr) single nucleotide variant Benign/Likely benign rs78870822 GRCh37 Chromosome 17, 8141897: 8141897
42 CTC1 NM_025099.5(CTC1): c.248G> C (p.Ser83Thr) single nucleotide variant Benign/Likely benign rs78870822 GRCh38 Chromosome 17, 8238579: 8238579
43 DKC1 NM_001363.4(DKC1): c.1512_1514dupGAA (p.Lys505_Ala506insLys) duplication Benign rs797045523 GRCh38 Chromosome X, 154776834: 154776836
44 DKC1 NM_001363.4(DKC1): c.1512_1514dupGAA (p.Lys505_Ala506insLys) duplication Benign rs797045523 GRCh37 Chromosome X, 154005109: 154005111
45 RTEL1 NM_016434.3(RTEL1): c.2413+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs776744306 GRCh38 Chromosome 20, 63690442: 63690442
46 RTEL1 NM_016434.3(RTEL1): c.2413+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs776744306 GRCh37 Chromosome 20, 62321795: 62321795
47 RTEL1 NM_016434.3(RTEL1): c.1482-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs863225129 GRCh37 Chromosome 20, 62319289: 62319289
48 RTEL1 NM_016434.3(RTEL1): c.1482-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs863225129 GRCh38 Chromosome 20, 63687936: 63687936
49 NHP2 NM_017838.3(NHP2): c.383T> C (p.Met128Thr) single nucleotide variant Uncertain significance rs759145032 GRCh38 Chromosome 5, 178149792: 178149792
50 NHP2 NM_017838.3(NHP2): c.383T> C (p.Met128Thr) single nucleotide variant Uncertain significance rs759145032 GRCh37 Chromosome 5, 177576793: 177576793

Copy number variations for Dyskeratosis Congenita from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 260197 X 146900000 154913754 Copy number DCK1 Hoyeraal-Hreidarsson syndrome

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

Pathways related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 ACD DKC1 NHP2 TERT TINF2 TP53
2
Show member pathways
11.96 ACD DKC1 NHP2 TERT TINF2 WRAP53
3 11.58 DKC1 GAR1 NHP2 NOP10
4 11.28 ACD DKC1 TERT TINF2
5 10.72 CSF2 PARN RTEL1 TERT

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 9.95 ACD CTC1 DCLRE1B TERT TINF2
2 nuclear body GO:0016604 9.93 ACD DCLRE1B NOP10 TINF2 TP53 WRAP53
3 nuclear chromosome, telomeric region GO:0000784 9.87 ACD CTC1 DCLRE1B GAR1 NHP2 TERT
4 Cajal body GO:0015030 9.85 DKC1 GAR1 NHP2 NOP10 TERC WRAP53
5 box H/ACA snoRNP complex GO:0031429 9.71 DKC1 GAR1 NHP2 NOP10
6 chromosome, telomeric region GO:0000781 9.7 ACD CTC1 DCLRE1B RTEL1 TERC TERT
7 nuclear telomere cap complex GO:0000783 9.61 ACD TERT TINF2
8 small nucleolar ribonucleoprotein complex GO:0005732 9.56 NHP2 NOP10
9 box H/ACA scaRNP complex GO:0072589 9.56 DKC1 GAR1 NHP2 NOP10
10 shelterin complex GO:0070187 9.54 ACD TINF2
11 telomerase catalytic core complex GO:0000333 9.48 TERC TERT
12 box H/ACA telomerase RNP complex GO:0090661 9.35 DKC1 GAR1 NHP2 NOP10 TERC
13 telomerase holoenzyme complex GO:0005697 9.17 DKC1 GAR1 NHP2 NOP10 TERC TERT
14 nucleus GO:0005634 10.39 ACD CTC1 DCLRE1B DKC1 GAR1 NHP2
15 nucleoplasm GO:0005654 10.26 ACD DCLRE1B DKC1 GAR1 NHP2 NOP10
16 nucleolus GO:0005730 10.04 DKC1 GAR1 NHP2 NOP10 PARN TERT

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.92 DKC1 GAR1 NHP2 NOP10
2 ribosome biogenesis GO:0042254 9.83 DKC1 GAR1 NHP2 NOP10
3 RNA processing GO:0006396 9.81 DKC1 TRUB1 TRUB2
4 cellular response to hypoxia GO:0071456 9.8 TERC TERT TP53
5 positive regulation of telomerase activity GO:0051973 9.76 ACD DKC1 PARN WRAP53
6 positive regulation of telomere maintenance via telomerase GO:0032212 9.73 ACD DKC1 PARN
7 telomere capping GO:0016233 9.71 ACD CTC1 DCLRE1B TINF2
8 negative regulation of telomere maintenance via telomerase GO:0032211 9.69 ACD CTC1 TINF2
9 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.67 DKC1 NHP2 NOP10
10 replicative senescence GO:0090399 9.65 CTC1 TERT TP53
11 telomere maintenance GO:0000723 9.65 ACD CTC1 DCLRE1B RTEL1 TERT
12 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.64 TERT TP53
13 negative regulation of cellular senescence GO:2000773 9.64 TERC TERT
14 positive regulation of establishment of protein localization to telomere GO:1904851 9.62 DKC1 WRAP53
15 RNA modification GO:0009451 9.62 DKC1 PARN TRUB1 TRUB2
16 protein localization to chromosome, telomeric region GO:0070198 9.61 ACD TINF2
17 telomere maintenance via telomere lengthening GO:0010833 9.61 CTC1 DCLRE1B
18 establishment of protein localization to telomere GO:0070200 9.61 ACD TERT WRAP53
19 protection from non-homologous end joining at telomere GO:0031848 9.6 ACD DCLRE1B
20 scaRNA localization to Cajal body GO:0090666 9.59 DKC1 WRAP53
21 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 DKC1 PARN
22 mRNA pseudouridine synthesis GO:1990481 9.58 DKC1 TRUB1
23 telomerase RNA stabilization GO:0090669 9.57 DKC1 PARN
24 telomere assembly GO:0032202 9.55 ACD TINF2
25 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.54 GAR1 NOP10
26 snRNA pseudouridine synthesis GO:0031120 9.54 DKC1 NHP2 NOP10
27 pseudouridine synthesis GO:0001522 9.46 DKC1 GAR1 NOP10 TRUB2
28 rRNA pseudouridine synthesis GO:0031118 9.26 DKC1 GAR1 NHP2 NOP10
29 telomere maintenance via telomerase GO:0007004 9.17 DKC1 GAR1 NHP2 NOP10 TERC TERT

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 9.73 ACD DCLRE1B TERC WRAP53
2 isomerase activity GO:0016853 9.7 DKC1 TRUB1 TRUB2
3 nuclease activity GO:0004518 9.69 DCLRE1B PARN USB1
4 chaperone binding GO:0051087 9.65 TERT TP53 WRAP53
5 snoRNA binding GO:0030515 9.54 NHP2 NOP10
6 pseudouridine synthase activity GO:0009982 9.5 DKC1 TRUB1 TRUB2
7 DNA polymerase binding GO:0070182 9.49 ACD TERC
8 RNA-directed DNA polymerase activity GO:0003964 9.46 TERC TERT
9 telomeric DNA binding GO:0042162 9.46 ACD CTC1 TERT TINF2
10 telomerase activity GO:0003720 9.43 DKC1 TERC TERT
11 telomerase RNA reverse transcriptase activity GO:0003721 9.4 TERC TERT
12 box H/ACA snoRNA binding GO:0034513 9.26 DKC1 GAR1 NHP2 NOP10
13 telomerase RNA binding GO:0070034 9.17 DKC1 GAR1 NHP2 NOP10 PARN TERT
14 RNA binding GO:0003723 10.02 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
50 NCIt
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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