MCID: DYS007
MIFTS: 66

Dyskeratosis Congenita

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

Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 12 23 50 24 25 56 29 52 42 14 69
Hoyeraal-Hreidarsson Syndrome 50 56 13 52 69
Hoyeraal Hreidarsson Syndrome 50 24 29
Zinsser-Cole-Engman Syndrome 23 24 25
Zinsser-Engman-Cole Syndrome 50 56
Dkc 50 56
Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia 50
Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome 56
Cerebellar Hypoplasia with Pancytopenia 50
X-Linked Dyskeratosis Congenita 69
Dc 56

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 aplastic anemia and dyskeratosis congenita, autosomal dominant 2, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Dyskeratosis Congenita is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. 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 : 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).

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 Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive Acd-Related Dyskeratosis Congenita
Dkc1-Related Dyskeratosis Congenita Nhp2-Related Dyskeratosis Congenita
Nop10-Related Dyskeratosis Congenita Parn-Related Dyskeratosis Congenita
Rtel1-Related Dyskeratosis Congenita Terc-Related Dyskeratosis Congenita
Tert-Related Dyskeratosis Congenita Tinf2-Related Dyskeratosis Congenita
Wrap53-Related Dyskeratosis Congenita

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

(show top 50) (show all 124)
id Related Disease Score Top Affiliating Genes
1 aplastic anemia 31.7 TERC TERT TINF2
2 dyskeratosis congenita, autosomal dominant 2 12.4
3 dyskeratosis congenita, autosomal recessive 5 12.4
4 dyskeratosis congenita, x-linked 12.4
5 dyskeratosis congenita, autosomal dominant 6 12.3
6 dyskeratosis congenita, autosomal recessive 3 12.3
7 dyskeratosis congenita, autosomal recessive 2 12.3
8 dyskeratosis congenita, autosomal dominant 3 12.3
9 dyskeratosis congenita, autosomal recessive 1 12.3
10 dyskeratosis congenita, autosomal recessive 6 12.3
11 dyskeratosis congenita autosomal dominant 12.2
12 dyskeratosis congenita, autosomal dominant 1 12.2
13 dyskeratosis congenita autosomal recessive 12.2
14 rtel1-related dyskeratosis congenita 12.0
15 acd-related dyskeratosis congenita 12.0
16 parn-related dyskeratosis congenita 11.9
17 nhp2-related dyskeratosis congenita 11.9
18 nop10-related dyskeratosis congenita 11.9
19 terc-related dyskeratosis congenita 11.9
20 tert-related dyskeratosis congenita 11.9
21 tinf2-related dyskeratosis congenita 11.9
22 wrap53-related dyskeratosis congenita 11.9
23 dkc1-related dyskeratosis congenita 11.9
24 revesz syndrome 11.7
25 congenital megalo-ureter 10.9 DKC1 TERC
26 cerebroretinal microangiopathy with calcifications and cysts 10.9
27 congenital intrauterine infection-like syndrome 10.9
28 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.9
29 deafness, autosomal dominant 9 10.9 DKC1 TINF2
30 insulin-resistant acanthosis nigricans, type a 10.9 TERC TERT
31 tracheobronchomalacia 10.9 DKC1 TERC
32 cleft palate, cardiac defects, and mental retardation 10.8 NHP2 NOP10 TERT
33 diamond-blackfan anemia 3 10.7 PARN RTEL1 TERC TERT
34 adult brain ependymoma 10.6 CTC1 TINF2
35 renal oncocytoma 10.6 PARN RTEL1 TERC TERT TINF2
36 dubin-johnson syndrome 10.5 ACD POT1 TERT
37 dysmorphism cleft palate loose skin 10.5 ACD DKC1 RTEL1 TERC TERT TINF2
38 hemochromatosis, neonatal 10.5 LIG4 USB1
39 mental retardation, autosomal recessive 45 10.4 DCLRE1B DKC1 LIG4 TERC
40 dysplastic cortical hyperostosis 10.4 ACD NHP2 NOP10 PARN RTEL1 TERT
41 enterovesical fistula 10.3 CSF2 CSF3
42 hematopoietic stem cell transplantation 10.3
43 blood coagulation disease 10.3 CSF2 CSF3 DKC1 TERT
44 hiv-1 10.3
45 primary systemic mycosis 10.2 CSF2 CSF3
46 pancytopenia 10.2
47 retinitis 10.2
48 neutropenia, severe congenital 3, autosomal recessive 10.2 CSF2 CSF3
49 leukoplakia 10.2
50 pulmonary fibrosis 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:

56 32 (show top 50) (show all 79)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 sparse scalp hair 56 32 frequent (33%) Frequent (79-30%) HP:0002209
5 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
6 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
7 palmoplantar keratoderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000982
8 hyporeflexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001265
9 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
10 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
11 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
12 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
13 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
14 thrombocytopenia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001873
15 anemia 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001903
16 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
17 sparse hair 56 32 frequent (33%) Frequent (79-30%) HP:0008070
18 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001511
19 cerebellar hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001321
20 osteoporosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000939
21 global developmental delay 56 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
22 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
23 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
24 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
25 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
26 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
27 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
28 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
29 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
30 hepatic failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001399
31 diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000819
32 tracheoesophageal fistula 56 32 frequent (33%) Frequent (79-30%) HP:0002575
33 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
34 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
35 premature graying of hair 56 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002216
36 hypopigmented skin patches 56 32 frequent (33%) Frequent (79-30%) HP:0001053
37 nail dystrophy 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0008404
38 blepharitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000498
39 urethral stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0008661
40 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
41 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002514
42 periodontitis 56 32 frequent (33%) Frequent (79-30%) HP:0000704
43 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
44 cellular immunodeficiency 56 32 frequent (33%) Frequent (79-30%) HP:0005374
45 white hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0011364
46 oral leukoplakia 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002745
47 taurodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000679
48 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
49 bone marrow hypocellularity 56 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0005528
50 neoplasm 56 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002664

UMLS symptoms related to Dyskeratosis Congenita:


onychomadesis

MGI Mouse Phenotypes related to Dyskeratosis Congenita:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ACD CSF2 CTC1 DCLRE1B DKC1 LIG4
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 70)
id 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 Phase 2, Phase 3,Early Phase 1 24356-66-9 32326 21704
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 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
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
37
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
38
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
39
Hydroxyurea Approved Phase 2 127-07-1 3657
40
Melphalan Approved Phase 2 148-82-3 4053 460612
41 Thiotepa Approved Phase 2 52-24-4 5453
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 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show all 16)

id 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 Recruiting 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 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
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:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita 29 24 WRAP53
2 Hoyeraal Hreidarsson Syndrome 29

Anatomical Context for Dyskeratosis Congenita

MalaCards organs/tissues related to Dyskeratosis Congenita:

39
Skin, Bone, Bone Marrow, T Cells, Pancreas, Neutrophil, Testis

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 458)
id Title Authors Year
1
Dyskeratosis congenita, bone marrow failure, and gastric adenocarcinoma: an insight into telomere biology. ( 28699608 )
2017
2
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. ( 28834235 )
2017
3
Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases. ( 28538506 )
2017
4
Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. ( 28643950 )
2017
5
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
6
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
7
Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. ( 28923296 )
2017
8
p53 Mediates Failure of Human Definitive Hematopoiesis in Dyskeratosis Congenita. ( 28757166 )
2017
9
Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. ( 28805708 )
2017
10
Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: analysis of oxidative stress in lung fibroblasts. ( 28092351 )
2017
11
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
12
Dyskeratosis Congenita. ( 28402761 )
2017
13
Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation. ( 27408398 )
2016
14
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. ( 26859482 )
2016
15
Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita. ( 27904106 )
2016
16
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. ( 27612988 )
2016
17
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
18
Survival after Hematopoietic Stem Cell Transplant in PatientsA with Dyskeratosis Congenita: Systematic Review ofA the Literature. ( 26968789 )
2016
19
Dyskeratosis congenita presenting with dysphagia. ( 27559501 )
2016
20
Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita. ( 27545506 )
2016
21
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
22
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
23
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. ( 27065378 )
2016
24
Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. ( 27622320 )
2016
25
Dyskeratosis congenita associated with leukoplakia of the tongue. ( 26778687 )
2016
26
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita. ( 27468421 )
2016
27
A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism. ( 27376432 )
2016
28
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. ( 26909595 )
2016
29
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. ( 27607446 )
2016
30
Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report. ( 27015183 )
2016
31
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. ( 26845033 )
2016
32
Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol. ( 26083318 )
2015
33
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. ( 26329388 )
2015
34
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. ( 26535771 )
2015
35
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. ( 26019357 )
2015
36
Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. ( 25499969 )
2015
37
Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype. ( 26446280 )
2015
38
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. ( 25893599 )
2015
39
Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First. ( 26900277 )
2015
40
Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease. ( 26171129 )
2015
41
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. ( 25499762 )
2015
42
Dyskeratosis Congenita with Acute Pre B Cell Lymphoblastic Leukemia in a 10-year-old Girl. ( 25772941 )
2015
43
A case of dyskeratosis congenita with dermoscopic and reflectance confocal microscopic features. ( 26089061 )
2015
44
Anesthesia in a patient with dyskeratosis congenita presenting for urgent subtotal gastrectomy. ( 26260648 )
2015
45
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases. ( 25455995 )
2015
46
Hepatic Angiosarcoma with Dyskeratosis Congenita. ( 26568000 )
2015
47
DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS. ( 27182588 )
2015
48
Long tails, short telomeres: Dyskeratosis congenita. ( 26116823 )
2015
49
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. ( 26351433 )
2015
50
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

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show all 18)
id 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.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh37 Chromosome X, 153993780: 153993780
3 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
4 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
5 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh37 Chromosome 17, 8140758: 8140761
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
id 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

GO Terms for Dyskeratosis Congenita

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.97 ACD CTC1 DCLRE1B POT1 TERT TINF2
2 intracellular ribonucleoprotein complex GO:0030529 9.92 DKC1 GAR1 NHP2 NOP10 TERT
3 nuclear body GO:0016604 9.91 ACD DCLRE1B NOP10 TINF2 WRAP53
4 Cajal body GO:0015030 9.83 DKC1 GAR1 NHP2 NOP10 WRAP53
5 nuclear telomere cap complex GO:0000783 9.71 ACD POT1 TERT TINF2
6 chromosome, telomeric region GO:0000781 9.7 ACD CTC1 DCLRE1B POT1 RTEL1 TERT
7 box H/ACA snoRNP complex GO:0031429 9.67 DKC1 GAR1 NHP2 NOP10
8 telosome GO:0070187 9.63 ACD POT1 TINF2
9 box H/ACA telomerase RNP complex GO:0090661 9.62 DKC1 GAR1 NHP2 NOP10
10 box H/ACA scaRNP complex GO:0072589 9.56 DKC1 GAR1 NHP2 NOP10
11 small nucleolar ribonucleoprotein complex GO:0005732 9.55 NHP2 NOP10
12 telomerase holoenzyme complex GO:0005697 9.43 DKC1 GAR1 NHP2 NOP10 TERT WRAP53
13 nuclear chromosome, telomeric region GO:0000784 9.28 ACD CTC1 DCLRE1B GAR1 LIG4 NHP2
14 nucleus GO:0005634 10.41 ACD CTC1 DCLRE1B DKC1 GAR1 LIG4
15 nucleoplasm GO:0005654 10.26 ACD DCLRE1B DKC1 GAR1 LIG4 NHP2
16 nucleolus GO:0005730 10.03 DKC1 GAR1 NHP2 NOP10 PARN TERT

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.92 DKC1 GAR1 NHP2 NOP10
2 ribosome biogenesis GO:0042254 9.84 DKC1 GAR1 NHP2 NOP10
3 positive regulation of telomere maintenance via telomerase GO:0032212 9.81 ACD DKC1 PARN POT1
4 RNA processing GO:0006396 9.8 DKC1 TRUB1 TRUB2
5 telomere maintenance GO:0000723 9.8 ACD CTC1 DCLRE1B RTEL1 TERT
6 negative regulation of telomere maintenance via telomerase GO:0032211 9.78 ACD CTC1 POT1 TINF2
7 RNA modification GO:0009451 9.73 DKC1 PARN TRUB1 TRUB2
8 positive regulation of telomerase activity GO:0051973 9.72 ACD DKC1 PARN POT1 WRAP53
9 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.7 DKC1 NHP2 NOP10
10 snRNA pseudouridine synthesis GO:0031120 9.67 DKC1 NHP2 NOP10
11 pseudouridine synthesis GO:0001522 9.67 DKC1 GAR1 NOP10 TRUB2
12 telomere capping GO:0016233 9.65 ACD CTC1 DCLRE1B POT1 TINF2
13 telomere assembly GO:0032202 9.63 ACD POT1 TINF2
14 replicative senescence GO:0090399 9.62 CTC1 TERT
15 protein localization to chromosome, telomeric region GO:0070198 9.61 ACD TINF2
16 telomere maintenance via telomere lengthening GO:0010833 9.61 CTC1 DCLRE1B
17 positive regulation of establishment of protein localization to telomere GO:1904851 9.6 DKC1 WRAP53
18 protection from non-homologous end joining at telomere GO:0031848 9.59 ACD DCLRE1B
19 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 DKC1 PARN
20 telomerase RNA stabilization GO:0090669 9.58 DKC1 PARN
21 mRNA pseudouridine synthesis GO:1990481 9.56 DKC1 TRUB1
22 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.55 GAR1 NOP10
23 establishment of protein localization to telomere GO:0070200 9.46 ACD POT1 TERT WRAP53
24 neutrophil differentiation GO:0030223 9.27 CSF2
25 rRNA pseudouridine synthesis GO:0031118 9.26 DKC1 GAR1 NHP2 NOP10
26 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:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.92 DKC1 GAR1 NHP2 PARN TERT TRUB1
2 isomerase activity GO:0016853 9.67 DKC1 TRUB1 TRUB2
3 nuclease activity GO:0004518 9.63 DCLRE1B PARN USB1
4 telomeric DNA binding GO:0042162 9.55 ACD CTC1 POT1 TERT TINF2
5 snoRNA binding GO:0030515 9.48 NHP2 NOP10
6 macromolecular complex binding GO:0044877 9.43 ACD DCLRE1B
7 pseudouridine synthase activity GO:0009982 9.43 DKC1 TRUB1 TRUB2
8 G-rich strand telomeric DNA binding GO:0098505 9.4 CTC1 POT1
9 telomerase activity GO:0003720 9.37 DKC1 TERT
10 box H/ACA snoRNA binding GO:0034513 9.26 DKC1 GAR1 NHP2 NOP10
11 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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