MCID: DYS007
MIFTS: 68

Dyskeratosis Congenita

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

Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 12 72 23 49 24 55 36 28 51 41 14 69
Hoyeraal-Hreidarsson Syndrome 49 55 36 13 51 69
Hoyeraal Hreidarsson Syndrome 49 28
Zinsser-Cole-Engman Syndrome 23 24
Zinsser-Engman-Cole Syndrome 49 55
Dkc 49 55
Dc 49 55
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 49
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome 55
Cerebellar Hypoplasia with Pancytopenia 49
X-Linked Dyskeratosis Congenita 69

Characteristics:

Orphanet epidemiological data:

55
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:

23
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 : 49 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.  Last updated: 9/22/2017

MalaCards based summary : Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to dyskeratosis congenita, autosomal recessive 1 and dyskeratosis congenita, autosomal dominant 1, and has symptoms including abnormality of female internal genitalia, abnormality of the testis and hypoplasia of the maxilla. 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 mortality/aging and neoplasm

Genetics Home Reference : 24 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).

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.

Wikipedia : 72 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 127)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal recessive 1 34.5 NHP2 NOP10 TERT
2 dyskeratosis congenita, autosomal dominant 1 34.4 TERC TERT TINF2
3 dyskeratosis congenita autosomal dominant 34.3 ACD DKC1 RTEL1 TERC TERT TINF2
4 dyskeratosis congenita autosomal recessive 34.0 ACD NHP2 NOP10 PARN RTEL1 TERT
5 revesz syndrome 33.8 DKC1 TINF2
6 congenital intrauterine infection-like syndrome 32.5 DKC1 TERC
7 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 31.4 TERC TERT TINF2
8 pulmonary fibrosis 30.9 PARN RTEL1 TERC TERT TINF2
9 inherited bone marrow failure syndromes 30.9 TERC TERT
10 pancytopenia 30.3 CSF2 CSF3 DKC1 LIG4 TERT
11 aplastic anemia 29.9 CSF2 CSF3 DKC1 GAR1 NHP2 NOP10
12 dyskeratosis congenita, x-linked 12.6
13 dyskeratosis congenita, autosomal dominant 2 12.5
14 dyskeratosis congenita, autosomal recessive 5 12.5
15 dyskeratosis congenita, autosomal dominant 6 12.5
16 dyskeratosis congenita, autosomal recessive 2 12.4
17 dyskeratosis congenita, autosomal recessive 3 12.4
18 dyskeratosis congenita, autosomal dominant 3 12.4
19 dyskeratosis congenita, autosomal recessive 6 12.4
20 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.1
22 torch syndrome 10.6 DKC1 TERC
23 retinal telangiectasia 10.4 CTC1 TINF2
24 hematopoietic stem cell transplantation 10.4
25 pulmonary fibrosis, idiopathic 10.4 NHP2 PARN RTEL1 TERC TERT
26 melanoma, cutaneous malignant 1 10.3 ACD POT1 TERT
27 retinitis 10.3
28 dubowitz syndrome 10.3 LIG4 USB1
29 aging 10.3
30 leukoplakia 10.2
31 fibrosis of extraocular muscles, congenital, 1 10.2
32 fanconi anemia, complementation group a 10.2
33 engraftment syndrome 10.2 CSF2 CSF3
34 neutropenia 10.1
35 squamous cell carcinoma 10.1
36 pneumonia 10.1
37 trichosporonosis 10.1 CSF2 CSF3
38 myelodysplastic syndrome 10.1
39 hepatitis 10.1
40 portal hypertension 10.1
41 pulmonary arteriovenous fistulas 10.0
42 graft-versus-host disease 10.0
43 multiple mitochondrial dysfunctions syndrome 5 10.0
44 limbal stem cell deficiency 10.0
45 thrombocytopenia 10.0
46 angiosarcoma 10.0
47 exudative vitreoretinopathy 10.0
48 arteriovenous malformation 10.0
49 esophagitis 10.0
50 allergic hypersensitivity disease 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:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000008
2 abnormality of the testis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000035
3 hypoplasia of the maxilla 55 31 occasional (7.5%) Occasional (29-5%) HP:0000327
4 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
5 blepharitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000498
6 abnormality of the eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000499
7 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
8 abnormality of the pharynx 55 31 frequent (33%) Frequent (79-30%) HP:0000600
9 hypodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000668
10 carious teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000670
11 taurodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000679
12 periodontitis 55 31 frequent (33%) Frequent (79-30%) HP:0000704
13 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
14 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
15 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
16 palmoplantar keratoderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000982
17 hypermelanotic macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001034
18 hypopigmented skin patches 55 31 frequent (33%) Frequent (79-30%) HP:0001053
19 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
20 global developmental delay 55 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
21 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
22 hepatic failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001399
23 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001511
24 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
25 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
26 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001873
27 abnormality of neutrophils 55 31 hallmark (90%) Very frequent (99-80%) HP:0001874
28 anemia 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001903
29 abnormality of coagulation 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001928
30 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
31 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
32 premature graying of hair 55 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002216
33 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
34 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002514
35 tracheoesophageal fistula 55 31 frequent (33%) Frequent (79-30%) HP:0002575
36 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
37 neoplasm 55 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002664
38 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
39 oral leukoplakia 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002745
40 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
41 neoplasm of the pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0002894
42 short stature 55 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0004322
43 cellular immunodeficiency 55 31 frequent (33%) Frequent (79-30%) HP:0005374
44 bone marrow hypocellularity 55 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0005528
45 aplasia/hypoplasia of the skin 55 31 frequent (33%) Frequent (79-30%) HP:0008065
46 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
47 sparse hair 55 31 frequent (33%) Frequent (79-30%) HP:0008070
48 nail dystrophy 55 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0008404
49 urethral stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0008661
50 esophageal stenosis 55 31 frequent (33%) Frequent (79-30%) HP:0010450

UMLS symptoms related to Dyskeratosis Congenita:


onychomadesis

MGI Mouse Phenotypes related to Dyskeratosis Congenita:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ACD CSF2 CTC1 DKC1 LIG4 NHP2
2 neoplasm MP:0002006 9.1 ACD CSF2 DKC1 LIG4 RTEL1 TERT

Drugs & Therapeutics for Dyskeratosis Congenita

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Early Phase 1 50-18-0, 6055-19-2 2907
3
Fludarabine Approved Phase 2, Phase 3, 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,Early Phase 1 24356-66-9 21704 32326
7 Alkylating Agents Phase 2, Phase 3,Early Phase 1
8 Antiemetics Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Antilymphocyte Serum Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3,Early Phase 1
13 Antimetabolites, Antineoplastic Phase 2, Phase 3,Early Phase 1
14 Antineoplastic Agents, Hormonal Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
16 Antiviral Agents Phase 2, Phase 3,Early Phase 1
17 Autonomic Agents Phase 2, Phase 3
18 Gastrointestinal Agents Phase 2, Phase 3
19 glucocorticoids Phase 2, Phase 3
20 Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Hormones Phase 2, Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
23 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1
24 Methylprednisolone acetate Phase 2, Phase 3
25 Methylprednisolone Hemisuccinate Phase 2, Phase 3
26 Neuroprotective Agents Phase 2, Phase 3
27 Peripheral Nervous System Agents Phase 2, Phase 3
28 Prednisolone acetate Phase 2, Phase 3
29 Prednisolone hemisuccinate Phase 2, Phase 3
30 Prednisolone phosphate Phase 2, Phase 3
31 Protective Agents Phase 2, Phase 3
32
Lenograstim Approved, Investigational Phase 2 135968-09-1
33
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Melphalan Approved Phase 2 148-82-3 460612 4053
38 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
39
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
40
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
41
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
42
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
44
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
45
Treosulfan Investigational Phase 2 299-75-2 9296
46 Adjuvants, Immunologic Phase 2
47 Anti-Bacterial Agents Phase 2
48 Antibiotics, Antitubercular Phase 2
49 Antifungal Agents Phase 2
50 Antitubercular 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 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
5 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Suspended NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
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 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 fludarabine phosphate;melphalan
16 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 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 Dyskeratosis Congenita 28
2 Hoyeraal Hreidarsson Syndrome 28 DKC1

Anatomical Context for Dyskeratosis Congenita

MalaCards organs/tissues related to Dyskeratosis Congenita:

38
Skin, Bone, Bone Marrow, T Cells, Neutrophil, Testis, Pancreas

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 463)
# Title Authors Year
1
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. ( 29178645 )
2017
2
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
3
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. ( 28643950 )
2017
4
Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita. ( 29042228 )
2017
5
Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology. ( 28699608 )
2017
6
Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: analysis of oxidative stress in lung fibroblasts. ( 28092351 )
2017
7
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. ( 28834235 )
2017
8
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
9
p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita. ( 28757166 )
2017
10
Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases. ( 28538506 )
2017
11
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
12
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
13
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. ( 28923296 )
2017
14
Cytomegalovirus Retinitis as a Presenting Feature of Multisystem Disorder: Dyskeratosis Congenita. ( 29422759 )
2017
15
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. ( 28805708 )
2017
16
Dyskeratosis Congenita. ( 28402761 )
2017
17
Clinical heterogeneity in a family with<i>DKC1</i>mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. ( 29081935 )
2017
18
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. ( 26859482 )
2016
19
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. ( 27607446 )
2016
20
Survival after Hematopoietic Stem Cell Transplant in PatientsA with Dyskeratosis Congenita: Systematic Review ofA the Literature. ( 26968789 )
2016
21
Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation. ( 27408398 )
2016
22
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
23
Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report. ( 27015183 )
2016
24
Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. ( 27622320 )
2016
25
Dyskeratosis congenita associated with leukoplakia of the tongue. ( 26778687 )
2016
26
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. ( 26909595 )
2016
27
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. ( 26845033 )
2016
28
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
29
Dyskeratosis congenita presenting with dysphagia. ( 27559501 )
2016
30
A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism. ( 27376432 )
2016
31
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
32
Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita. ( 27904106 )
2016
33
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita. ( 27468421 )
2016
34
Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita. ( 27545506 )
2016
35
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. ( 27612988 )
2016
36
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. ( 27065378 )
2016
37
Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. ( 25499969 )
2015
38
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. ( 25854548 )
2015
39
A case report on a rare disease: dyskeratosis congenita. ( 25780486 )
2015
40
A case of dyskeratosis congenita with dermoscopic and reflectance confocal microscopic features. ( 26089061 )
2015
41
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients. ( 25992652 )
2015
42
Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease. ( 26171129 )
2015
43
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. ( 25499762 )
2015
44
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition. ( 26546739 )
2015
45
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. ( 26019357 )
2015
46
Hepatic Angiosarcoma with Dyskeratosis Congenita. ( 26568000 )
2015
47
Long tails, short telomeres: Dyskeratosis congenita. ( 26116823 )
2015
48
Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First. ( 26900277 )
2015
49
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. ( 25893599 )
2015
50
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. ( 26351433 )
2015

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
2 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
3 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
4 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh37 Chromosome 17, 8140758: 8140761
5 CTC1 NM_025099.5(CTC1): c.2959C> T (p.Arg987Trp) single nucleotide variant Pathogenic rs202138550 GRCh37 Chromosome 17, 8133261: 8133261
6 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh37 Chromosome 17, 8133714: 8133714
7 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic/Likely pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
8 RTEL1 NM_032957.4(RTEL1): c.3028C> T (p.Arg1010Ter) single nucleotide variant Pathogenic rs373740199 GRCh37 Chromosome 20, 62324600: 62324600
9 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh38 Chromosome 16, 14582225: 14582225
10 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh37 Chromosome 16, 14687157: 14687157
11 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh37 Chromosome 16, 14687213: 14687213
12 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh38 Chromosome 16, 14608274: 14608277
13 TERT NM_198253.2(TERT): c.2227C> T (p.Arg743Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 1278700: 1278700
14 TERT NM_198253.2(TERT): c.2058C> G (p.Ile686Met) single nucleotide variant Likely pathogenic rs745590324 GRCh37 Chromosome 5, 1279478: 1279478
15 TERT NM_198253.2(TERT): c.2011C> G (p.Arg671Gly) single nucleotide variant Likely pathogenic rs1060503011 GRCh38 Chromosome 5, 1279410: 1279410
16 RTEL1 NM_032957.4(RTEL1): c.49C> T (p.Pro17Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 63659451: 63659451
17 RTEL1 NM_032957.4(RTEL1): c.1207+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 20, 62311300: 62311300
18 RTEL1 NM_016434.3(RTEL1): c.3370delC (p.His1124Thrfs) deletion Pathogenic GRCh37 Chromosome 20, 62326445: 62326445

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:

36
# 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 9.92 ACD CTC1 POT1 TERT TINF2
2 intracellular ribonucleoprotein complex GO:0030529 9.88 DKC1 GAR1 NHP2 NOP10 TERT
3 nuclear body GO:0016604 9.86 ACD NOP10 TINF2 WRAP53
4 Cajal body GO:0015030 9.83 DKC1 GAR1 NHP2 NOP10 WRAP53
5 chromosome, telomeric region GO:0000781 9.8 ACD CTC1 POT1 RTEL1 TERT TINF2
6 nuclear telomere cap complex GO:0000783 9.71 ACD POT1 TERT TINF2
7 box H/ACA snoRNP complex GO:0031429 9.67 DKC1 GAR1 NHP2 NOP10
8 shelterin complex GO:0070187 9.63 ACD POT1 TINF2
9 box H/ACA scaRNP complex GO:0072589 9.56 DKC1 GAR1 NHP2 NOP10
10 nuclear chromosome, telomeric region GO:0000784 9.56 ACD CTC1 GAR1 LIG4 NHP2 POT1
11 small nucleolar ribonucleoprotein complex GO:0005732 9.54 NHP2 NOP10
12 box H/ACA telomerase RNP complex GO:0090661 9.46 DKC1 GAR1 NHP2 NOP10
13 telomerase holoenzyme complex GO:0005697 9.1 DKC1 GAR1 NHP2 NOP10 TERT WRAP53
14 nucleus GO:0005634 10.37 ACD CTC1 DKC1 GAR1 LIG4 NHP2
15 nucleoplasm GO:0005654 10.25 ACD DKC1 GAR1 LIG4 NHP2 NOP10
16 nucleolus GO:0005730 10.02 DKC1 GAR1 NHP2 NOP10 PARN TERT

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.91 DKC1 GAR1 NHP2 NOP10
2 ribosome biogenesis GO:0042254 9.84 DKC1 GAR1 NHP2 NOP10
3 telomere maintenance GO:0000723 9.81 ACD CTC1 RTEL1 TERT
4 positive regulation of telomere maintenance via telomerase GO:0032212 9.8 ACD DKC1 PARN POT1
5 RNA processing GO:0006396 9.79 DKC1 TRUB1 TRUB2
6 telomere capping GO:0016233 9.78 ACD CTC1 POT1 TINF2
7 negative regulation of telomere maintenance via telomerase GO:0032211 9.73 ACD CTC1 POT1 TINF2
8 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.7 DKC1 NHP2 NOP10
9 RNA modification GO:0009451 9.67 DKC1 PARN TRUB1 TRUB2
10 positive regulation of telomerase activity GO:0051973 9.65 ACD DKC1 PARN POT1 WRAP53
11 snRNA pseudouridine synthesis GO:0031120 9.63 DKC1 NHP2 NOP10
12 pseudouridine synthesis GO:0001522 9.62 DKC1 GAR1 NOP10 TRUB2
13 replicative senescence GO:0090399 9.61 CTC1 TERT
14 protein localization to chromosome, telomeric region GO:0070198 9.6 ACD TINF2
15 positive regulation of establishment of protein localization to telomere GO:1904851 9.59 DKC1 WRAP53
16 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 DKC1 PARN
17 telomerase RNA stabilization GO:0090669 9.58 DKC1 PARN
18 telomere assembly GO:0032202 9.58 ACD POT1 TINF2
19 neutrophil differentiation GO:0030223 9.57 CSF2 CSF3
20 mRNA pseudouridine synthesis GO:1990481 9.56 DKC1 TRUB1
21 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.55 GAR1 NOP10
22 establishment of protein localization to telomere GO:0070200 9.46 ACD POT1 TERT WRAP53
23 rRNA pseudouridine synthesis GO:0031118 9.26 DKC1 GAR1 NHP2 NOP10
24 telomere maintenance via telomerase GO:0007004 9.17 DKC1 GAR1 NHP2 NOP10 POT1 TERT

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.97 DKC1 GAR1 NHP2 NOP10 PARN TERT
2 isomerase activity GO:0016853 9.63 DKC1 TRUB1 TRUB2
3 telomeric DNA binding GO:0042162 9.55 ACD CTC1 POT1 TERT TINF2
4 snoRNA binding GO:0030515 9.43 NHP2 NOP10
5 pseudouridine synthase activity GO:0009982 9.43 DKC1 TRUB1 TRUB2
6 G-rich strand telomeric DNA binding GO:0098505 9.4 CTC1 POT1
7 telomerase activity GO:0003720 9.37 DKC1 TERT
8 box H/ACA snoRNA binding GO:0034513 9.26 DKC1 GAR1 NHP2 NOP10
9 telomerase RNA binding GO:0070034 9.17 DKC1 GAR1 NHP2 NOP10 PARN TERT

Sources for Dyskeratosis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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