DC
MCID: DYS007
MIFTS: 67

Dyskeratosis Congenita (DC)

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

Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 12 74 25 20 43 58 36 29 54 6 44 15 39 71
Zinsser-Cole-Engman Syndrome 25 43
Zinsser-Engman-Cole Syndrome 20 58
Dkc 20 58
Dc 20 58
X-Linked Dyskeratosis Congenita 71
Hoyeraal-Hreidarsson Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
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;

GeneReviews:

25
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


Summaries for Dyskeratosis Congenita

MedlinePlus Genetics : 43 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).People with dyskeratosis congenita have an increased risk of developing several life-threatening conditions. They are especially vulnerable to disorders that impair bone marrow function. These disorders disrupt the ability of the bone marrow to produce new blood cells. Affected individuals may develop aplastic anemia, also known as bone marrow failure, which occurs when the bone marrow does not produce enough new blood cells. They are also at higher than average risk for myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally; this condition may progress to a form of blood cancer called leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.People with dyskeratosis congenita may also develop pulmonary fibrosis, a condition that causes scar tissue (fibrosis) to build up in the lungs, decreasing the transport of oxygen into the bloodstream. Additional signs and symptoms that occur in some people with dyskeratosis congenita include eye abnormalities such as narrow tear ducts that may become blocked, preventing drainage of tears and leading to eyelid irritation; dental problems; hair loss or prematurely grey hair; low bone mineral density (osteoporosis); degeneration (avascular necrosis) of the hip and shoulder joints; or liver disease. Some affected males may have narrowing (stenosis) of the urethra, which is the tube that carries urine out of the body from the bladder. Urethral stenosis may lead to difficult or painful urination and urinary tract infections.The severity of dyskeratosis congenita varies widely among affected individuals. The least severely affected individuals have only a few mild physical features of the disorder and normal bone marrow function. More severely affected individuals have many of the characteristic physical features and experience bone marrow failure, cancer, or pulmonary fibrosis by early adulthood.While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing and walking, developmental delay may occur in some severely affected individuals. In one severe form of the disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis congenita.

MalaCards based summary : Dyskeratosis Congenita, also known as zinsser-cole-engman syndrome, is related to dyskeratosis congenita, x-linked and revesz syndrome, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Cell Cycle, Mitotic. The drugs alemtuzumab and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and eye, and related phenotypes are anemia and abnormal fingernail morphology

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.

GARD : 20 Dyskeratosis congenita affects 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. Telomeres 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. There is evidence that another gene, NPM1, may also be involved. 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.

KEGG : 36 Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis.

Wikipedia : 74 Dyskeratosis congenita (DKC),also known as Zinsser-Engman-Cole syndrome, is a rare progressive... 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 244)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 33.8 TINF2 TERT TERC NOP10 NHP2 DKC1
2 revesz syndrome 33.7 WRAP53 TINF2 TGM1 TERT TERC RTEL1
3 dyskeratosis congenita, autosomal recessive 5 33.7 RTEL1-TNFRSF6B RTEL1
4 dyskeratosis congenita, autosomal dominant 1 33.6 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
5 dyskeratosis congenita, autosomal recessive 1 33.6 TERT NOP10 NHP2
6 dyskeratosis congenita, autosomal recessive 3 33.6 WRAP53 TP53
7 dyskeratosis congenita autosomal dominant 33.3 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
8 dyskeratosis congenita autosomal recessive 33.3 WRAP53 TP53 TERT RTEL1-TNFRSF6B RTEL1 PARN
9 hoyeraal hreidarsson syndrome 33.2 TINF2 TERT TERC RTEL1 PARN DKC1
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 32.6 TERT RTEL1-TNFRSF6B RTEL1
11 congenital intrauterine infection-like syndrome 32.5 TERC DKC1
12 aplastic anemia 32.3 WRAP53 TP53 TINF2 TERT TERC RTEL1
13 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 32.1 TERC LOC110806306
14 pulmonary fibrosis 32.0 TINF2 TERT TERC RTEL1 PARN ACD
15 inherited bone marrow failure syndromes 31.9 TERT TERC
16 pulmonary fibrosis, idiopathic 31.6 WRAP53 TP53 TINF2 TERT TERC RTEL1-TNFRSF6B
17 fanconi anemia, complementation group a 31.5 TP53 TINF2 TERC RTEL1 NPM1 DKC1
18 coats disease 31.4 WRAP53 TINF2 TERC RTEL1 NOP10 NHP2
19 myelodysplastic syndrome 31.4 TP53 TERT TERC RTEL1 NPM1
20 cerebellar hypoplasia 31.3 TINF2 RTEL1 DKC1
21 shwachman-diamond syndrome 1 30.9 TP53 TINF2 TERT TERC NOP10 NHP2
22 diamond-blackfan anemia 30.8 TP53 TINF2 TERT TERC NPM1 NOP10
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 30.7 RTEL1-TNFRSF6B RTEL1
24 acute interstitial pneumonia 30.7 TERT TERC RTEL1-TNFRSF6B
25 dyskeratosis congenita, autosomal dominant 2 11.9
26 dyskeratosis congenita, autosomal dominant 6 11.8
27 dyskeratosis congenita, autosomal dominant 3 11.8
28 dyskeratosis congenita, autosomal recessive 2 11.8
29 dyskeratosis congenita, autosomal recessive 6 11.8
30 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
31 bone marrow failure syndrome 3 11.1
32 leukoplakia 10.9
33 pancytopenia 10.8
34 oral leukoplakia 10.7
35 dowling-degos disease 1 10.7
36 melanoma, cutaneous malignant 1 10.6 TP53 TINF2 TERT TERC RTEL1 CTC1
37 retinal telangiectasia 10.6 WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
38 li-fraumeni syndrome 10.6 WRAP53 TP53 TERT RTEL1
39 human papillomavirus infectious disease 10.6 TP53 TERT
40 torch syndrome 10.6 TERC DKC1
41 premature aging 10.5
42 urinary tract papillary transitional cell benign neoplasm 10.5 TP53 TERT
43 deficiency anemia 10.5
44 bladder papillary transitional cell neoplasm 10.5 TP53 TERT
45 chronic congestive splenomegaly 10.5 TERT DKC1
46 keratosis 10.5
47 postinflammatory pulmonary fibrosis 10.5 TERT TERC
48 graft-versus-host disease 10.5
49 bladder transitional cell papilloma 10.5 TP53 TERT
50 granulosa cell tumor of the ovary 10.5 TP53 TERT

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:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
3 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
4 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
5 abnormality of neutrophils 58 31 hallmark (90%) Very frequent (99-80%) HP:0001874
6 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
7 oral leukoplakia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002745
8 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
9 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
13 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
14 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
15 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
16 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
17 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
18 cellular immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005374
19 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
20 tracheoesophageal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0002575
21 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
22 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
23 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
24 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
25 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
26 anorectal anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0012732
27 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
28 urethral stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0008661
29 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
30 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
31 aplastic/hypoplastic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0010624
32 bone marrow hypocellularity 58 31 frequent (33%) Frequent (79-30%) HP:0005528
33 esophageal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0010450
34 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008
35 coarse metaphyseal trabecularization 31 frequent (33%) HP:0100670
36 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
37 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
38 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
39 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
40 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
41 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
42 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
43 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
44 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
45 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
46 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
47 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
48 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
49 abnormal testis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000035
50 premature graying of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002216

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 9.86 ACD CTC1 DCLRE1B DKC1 INPP4A NHP2
2 neoplasm MP:0002006 9.1 ACD DKC1 NPM1 RTEL1 TERT TP53

Drugs & Therapeutics for Dyskeratosis Congenita

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Antineoplastic Agents, Immunological Phase 2, Phase 3
9 Protective Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Gastrointestinal Agents Phase 2, Phase 3
12 Neuroprotective Agents Phase 2, Phase 3
13 Methylprednisolone Acetate Phase 2, Phase 3
14 glucocorticoids Phase 2, Phase 3
15 Antiemetics Phase 2, Phase 3
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
18
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
19
Mycophenolic acid Approved Phase 2 24280-93-1 446541
20
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
21
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
22
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
23
Mesna Approved, Investigational Phase 2 3375-50-6 598
24
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
25 Adjuvants, Immunologic Phase 2
26 Immunologic Factors Phase 2
27 Antifungal Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Immunosuppressive Agents Phase 2
30 Antitubercular Agents Phase 2
31 Anti-Bacterial Agents Phase 2
32 Anti-Infective Agents Phase 2
33 Cyclosporins Phase 2
34 Antirheumatic Agents Phase 2
35 Alkylating Agents Phase 2
36 Calcineurin Inhibitors Phase 2
37 Antilymphocyte Serum Phase 2
38 Thymoglobulin Phase 2
39 Hormones Phase 1, Phase 2
40 Hormone Antagonists Phase 1, Phase 2
41 Estrogens Phase 1, Phase 2
42 Estrogen Antagonists Phase 1, Phase 2
43 Estrogen Receptor Antagonists Phase 1, Phase 2
44
Abatacept Approved Phase 1 332348-12-6 10237
45
Pancrelipase Approved, Investigational 53608-75-6
46 pancreatin
47 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Transplant For Patients With Dyskeratosis Congenita and Severe Aplastic Anemia 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 Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
4 Haploidentical Donor Hematopoietic Cell Transplantation for Patients With Severe Aplastic Anemia Recruiting NCT04558736 Phase 2 Anti-Thymocyte Globulin (Rabbit);Fludarabine;Cyclophosphamide;Mesna;G-CSF
5 The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis Not yet recruiting NCT04638517 Phase 2 Danazol;Placebo
6 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
7 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
8 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
9 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
10 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
11 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study 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 29

Anatomical Context for Dyskeratosis Congenita

MalaCards organs/tissues related to Dyskeratosis Congenita:

40
Bone Marrow, Bone, Eye, Cerebellum, Retina, Pancreas, Testis

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 994)
# Title Authors PMID Year
1
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 25 6 61
22341970 2012
2
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 61 25 6
21205863 2011
3
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 61 25 6
18523010 2008
4
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 6 25 61
17507419 2007
5
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 54 61 25
18252230 2008
6
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 25 54 61
15885610 2005
7
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 54 25 61
14630445 2003
8
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 61 6
11574891 2001
9
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 25 61
26810774 2016
10
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. 25 61
26482878 2015
11
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. 25 61
25940403 2015
12
Successful T-cell-depleted haploidentical hematopoietic stem cell transplantation in a child with dyskeratosis congenita after a fludarabine-based conditioning regimen. 25 61
25374286 2015
13
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25 61
25848748 2015
14
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 61 25
25893599 2015
15
Clinical utility gene card for: Dyskeratosis congenita - update 2015. 25 61
25182133 2015
16
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 61 25
25233904 2014
17
Response to androgen therapy in patients with dyskeratosis congenita. 61 25
24666134 2014
18
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 61 25
24009516 2013
19
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. 61 25
23751955 2013
20
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 25 61
23591994 2013
21
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 25 61
23782086 2013
22
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 61 25
23329068 2013
23
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 61 25
23453664 2013
24
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 25 61
21477109 2012
25
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? 25 61
22458992 2012
26
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. 25 61
22058220 2012
27
Constitutional telomerase mutations are genetic risk factors for cirrhosis. 25 61
21520173 2011
28
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita. 61 25
21176016 2011
29
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. 25 61
20383216 2011
30
Dyskeratosis congenita. 61 25
22160078 2011
31
The genetics and clinical manifestations of telomere biology disorders. 61 25
21189492 2010
32
Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita. 61 25
21042011 2010
33
Dyskeratosis congenita: the first NIH clinical research workshop. 25 61
19415736 2009
34
Cancer in dyskeratosis congenita. 25 61
19282459 2009
35
Syndromes of telomere shortening. 25 61
19405848 2009
36
Ataxia and pancytopenia caused by a mutation in TINF2. 61 25
18979121 2008
37
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 61 25
18669893 2008
38
All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative. 61 25
18831063 2008
39
Dyskeratosis Congenita: a historical perspective. 25 61
18054794 2008
40
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. 61 25
17825470 2008
41
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. 61 25
17663679 2007
42
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. 25 61
17760812 2007
43
Telomerase mutations in families with idiopathic pulmonary fibrosis. 25 61
17392301 2007
44
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure. 25 61
17317590 2007
45
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. 25 61
16332973 2006
46
Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen. 61 25
16205731 2005
47
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 61 25
16247010 2005
48
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. 61 25
12676774 2003
49
Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. 61 25
12748659 2003
50
Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. 61 25
9051251 1997

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show top 50) (show all 1060)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOP10 NM_018648.3(NOP10):c.100C>T (p.Arg34Trp) SNV Pathogenic 4279 rs121908092 15:34634264-34634264 15:34342063-34342063
2 NOP10 NM_018648.3(NOP10):c.122_135delinsCACC (p.Tyr41fs) Indel Pathogenic 651009 rs1595604667 15:34634229-34634242 15:34342028-34342041
3 WRAP53 NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) SNV Pathogenic 30976 rs281865549 17:7605832-7605832 17:7702514-7702514
4 WRAP53 NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) SNV Pathogenic 41251 rs281865550 17:7606345-7606345 17:7703027-7703027
5 WRAP53 NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) SNV Pathogenic 41252 rs281865547 17:7592602-7592602 17:7689284-7689284
6 TERT NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) SNV Pathogenic 29900 rs199422301 5:1271271-1271271 5:1271156-1271156
7 TERT NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) SNV Pathogenic 29901 rs199422304 5:1264661-1264661 5:1264546-1264546
8 NHP2 NM_022762.5(RMND5B):c.*1728A>G SNV Pathogenic 4280 rs121908089 5:177576761-177576761 5:178149760-178149760
9 NHP2 NM_022762.5(RMND5B):c.*1767C>T SNV Pathogenic 4281 rs121908090 5:177576800-177576800 5:178149799-178149799
10 NHP2 NM_022762.5(RMND5B):c.*1683A>T SNV Pathogenic 4282 rs121908091 5:177576716-177576716 5:178149715-178149715
11 TERC NR_001566.1(TERC):n.374_1194del821 Deletion Pathogenic 7319 rs1553915517 3:169481651-169482471 3:169763863-169764683
12 TERC NR_001566.1(TERC):n.408C>G SNV Pathogenic 7320 rs199422284 3:169482441-169482441 3:169764653-169764653
13 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) SNV Pathogenic 38915 rs199422321 14:24709980-24709980 14:24240774-24240774
14 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) SNV Pathogenic 38916 rs142777869 14:24709952-24709952 14:24240746-24240746
15 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) SNV Pathogenic 5624 rs121918543 14:24709848-24709848 14:24240642-24240642
16 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) SNV Pathogenic 38917 rs121918543 14:24709848-24709848 14:24240642-24240642
17 TGM1 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) SNV Pathogenic 38918 rs199422322 14:24709845-24709845 14:24240639-24240639
18 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) SNV Pathogenic 5626 rs121918545 14:24709842-24709842 14:24240636-24240636
19 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) SNV Pathogenic 5627 rs121918545 14:24709842-24709842 14:24240636-24240636
20 TINF2 NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) SNV Pathogenic 38919 rs199422311 14:24709839-24709839 14:24240633-24240633
21 TINF2 NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) SNV Pathogenic 38920 rs199422311 14:24709839-24709839 14:24240633-24240633
22 TINF2 NM_001099274.3(TINF2):c.848C>A (p.Pro283His) SNV Pathogenic 38921 rs199422313 14:24709838-24709838 14:24240632-24240632
23 TINF2 NM_001099274.3(TINF2):c.849dup (p.Thr284fs) Duplication Pathogenic 38922 rs199422315 14:24709836-24709837 14:24240630-24240631
24 TINF2 NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) SNV Pathogenic 38923 rs199422314 14:24709836-24709836 14:24240630-24240630
25 TINF2 NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) SNV Pathogenic 38924 rs199422316 14:24709826-24709826 14:24240620-24240620
26 TINF2 NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) Indel Pathogenic 38926 rs199422318 14:24709820-24709821 14:24240614-24240615
27 TINF2 NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) SNV Pathogenic 38927 rs199422319 14:24709815-24709815 14:24240609-24240609
28 TINF2 NM_001099274.3(TINF2):c.892del (p.Gln298fs) Deletion Pathogenic 38928 rs199422320 14:24709794-24709794 14:24240588-24240588
29 NHP2 NM_022762.5(RMND5B):c.*1767C>T SNV Pathogenic 4281 rs121908090 5:177576800-177576800 5:178149799-178149799
30 NHP2 NM_022762.5(RMND5B):c.*1728A>G SNV Pathogenic 4280 rs121908089 5:177576761-177576761 5:178149760-178149760
31 NHP2 NM_022762.5(RMND5B):c.*1683A>T SNV Pathogenic 4282 rs121908091 5:177576716-177576716 5:178149715-178149715
32 WRAP53 NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) Deletion Pathogenic 638511 rs1597422298 17:7605824-7605824 17:7702506-7702506
33 TERT TERT:c.1710G>Y (p.Lys570Asn) SNV Pathogenic 39103 rs1554041299 5:1282603-1282603 5:1282488-1282488
34 TERT NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) SNV Pathogenic 39105 rs199422296 5:1279507-1279507 5:1279392-1279392
35 TERT NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) SNV Pathogenic 39106 rs199422295 5:1279491-1279491 5:1279376-1279376
36 TERT NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) SNV Pathogenic 39108 rs199422297 5:1279426-1279426 5:1279311-1279311
37 TERT NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) SNV Pathogenic 39110 rs199422299 5:1278880-1278880 5:1278765-1278765
38 TERT NM_198253.3(TERT):c.2177C>T (p.Thr726Met) SNV Pathogenic 39111 rs149566858 5:1278865-1278865 5:1278750-1278750
39 TERT NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) SNV Pathogenic 12735 rs121918665 5:1264656-1264656 5:1264541-1264541
40 TERT NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) SNV Pathogenic 39118 rs199422305 5:1260624-1260624 5:1260509-1260509
41 TERC NR_001566.1(TERC):n.100T>A SNV Pathogenic 39280 rs199422269 3:169482749-169482749 3:169764961-169764961
42 TERC NR_001566.1(TERC):n.116C>T SNV Pathogenic 7326 rs199422272 3:169482733-169482733 3:169764945-169764945
43 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic 39282 rs199422274 3:169482706-169482706 3:169764918-169764918
44 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic 7322 rs199422277 3:169482645-169482645 3:169764857-169764857
45 TERC NR_001566.1(TERC):n.216_229del Deletion Pathogenic 39285 rs199422278 3:169482620-169482633 3:169764832-169764845
46 TERC NR_001566.1(TERC):n.410C>G SNV Pathogenic 39295 rs199422286 3:169482439-169482439 3:169764651-169764651
47 LOC110806306 NR_001566.1(TERC):n.48A>G SNV Pathogenic 39297 rs199422262 3:169482801-169482801 3:169765013-169765013
48 LOC110806306 NR_001566.1(TERC):n.53_87del Deletion Pathogenic 39299 rs199422264 3:169482762-169482796 3:169764974-169765008
49 TERC NR_001566.1(TERC):n.79del Deletion Pathogenic 39300 rs199422266 3:169482770-169482770 3:169764982-169764982
50 TERC NR_001566.1(TERC):n.96_97del Deletion Pathogenic 39301 rs199422267 3:169482752-169482753 3:169764964-169764965

Cosmic variations for Dyskeratosis Congenita:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM148932717 PIK3CA skin,head neck,other,irritated c.1624G>A p.E542K 3:179218294-179218294 12
2 COSM87132301 PIK3CA skin,head neck,other,irritated c.1624G>A p.E542K 3:179218294-179218294 12
3 COSM115705346 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12
4 COSM102794588 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12
5 COSM142950333 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12
6 COSM107625421 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12
7 COSM90910564 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12
8 COSM91802800 FGFR3 skin,head neck,other,irritated c.742C>T p.R248C 4:1801837-1801837 12

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 15)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.36 WRAP53 USB1 TP53 TINF2 TERT RTEL1-TNFRSF6B
2 nucleoplasm GO:0005654 10.25 WRAP53 USB1 TP53 TINF2 TERT RTEL1
3 nucleolus GO:0005730 10.09 TP53 TERT PARN NPM1 NOP10 NHP2
4 chromosome GO:0005694 9.99 WRAP53 TINF2 TERT DCLRE1B CTC1 ACD
5 nuclear body GO:0016604 9.95 WRAP53 TP53 TINF2 NOP10 DCLRE1B ACD
6 Cajal body GO:0015030 9.65 WRAP53 TERC NOP10 NHP2 DKC1
7 nuclear telomere cap complex GO:0000783 9.63 TINF2 TERT ACD
8 chromosome, telomeric region GO:0000781 9.61 WRAP53 TINF2 TERT TERC RTEL1 NHP2
9 small nucleolar ribonucleoprotein complex GO:0005732 9.54 NOP10 NHP2
10 box H/ACA snoRNP complex GO:0031429 9.54 NOP10 NHP2 DKC1
11 shelterin complex GO:0070187 9.52 TINF2 ACD
12 box H/ACA scaRNP complex GO:0072589 9.5 NOP10 NHP2 DKC1
13 telomerase catalytic core complex GO:0000333 9.49 TERT TERC
14 box H/ACA telomerase RNP complex GO:0090661 9.46 TERC NOP10 NHP2 DKC1
15 telomerase holoenzyme complex GO:0005697 9.17 WRAP53 TERT TERC NOP10 NHP2 DKC1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.97 WRAP53 RTEL1-TNFRSF6B RTEL1 NPM1 DCLRE1B
2 cellular response to DNA damage stimulus GO:0006974 9.97 WRAP53 TP53 RTEL1-TNFRSF6B RTEL1 DCLRE1B CTC1
3 cellular response to hypoxia GO:0071456 9.82 TP53 TERT TERC
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.82 USB1 PARN DCLRE1B
5 ribosome biogenesis GO:0042254 9.8 NOP10 NHP2 DKC1
6 positive regulation of telomere maintenance via telomerase GO:0032212 9.69 PARN DKC1 ACD
7 positive regulation of telomerase activity GO:0051973 9.67 WRAP53 PARN DKC1 ACD
8 regulation of double-strand break repair via homologous recombination GO:0010569 9.64 RTEL1-TNFRSF6B RTEL1
9 pseudouridine synthesis GO:0001522 9.63 NOP10 DKC1
10 negative regulation of telomere maintenance via telomerase GO:0032211 9.63 TINF2 CTC1 ACD
11 RNA modification GO:0009451 9.62 PARN DKC1
12 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.62 TP53 TERT
13 telomere capping GO:0016233 9.62 TINF2 DCLRE1B CTC1 ACD
14 protein localization to chromosome, telomeric region GO:0070198 9.61 TINF2 ACD
15 positive regulation of establishment of protein localization to telomere GO:1904851 9.61 WRAP53 DKC1
16 replicative senescence GO:0090399 9.61 TP53 TERT CTC1
17 bone marrow development GO:0048539 9.6 TP53 CTC1
18 telomere maintenance via telomere lengthening GO:0010833 9.59 DCLRE1B CTC1
19 protection from non-homologous end joining at telomere GO:0031848 9.58 DCLRE1B ACD
20 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.58 NOP10 NHP2 DKC1
21 scaRNA localization to Cajal body GO:0090666 9.57 WRAP53 DKC1
22 establishment of protein localization to telomere GO:0070200 9.56 TERT ACD
23 regulation of telomerase RNA localization to Cajal body GO:1904872 9.55 PARN DKC1
24 telomerase RNA stabilization GO:0090669 9.54 PARN DKC1
25 telomere assembly GO:0032202 9.52 TINF2 ACD
26 box H/ACA snoRNA 3'-end processing GO:0000495 9.48 PARN DKC1
27 rRNA pseudouridine synthesis GO:0031118 9.43 NOP10 NHP2 DKC1
28 telomere maintenance GO:0000723 9.43 TERT RTEL1-TNFRSF6B RTEL1 DCLRE1B CTC1 ACD
29 snRNA pseudouridine synthesis GO:0031120 9.33 NOP10 NHP2 DKC1
30 telomere maintenance via telomerase GO:0007004 9.17 WRAP53 TERT TERC NOP10 NHP2 DKC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10.04 WRAP53 TERT PARN NPM1 NOP10 NHP2
2 nuclease activity GO:0004518 9.69 USB1 PARN DCLRE1B
3 chaperone binding GO:0051087 9.63 WRAP53 TP53 TERT
4 DNA polymerase binding GO:0070182 9.5 TERC RTEL1 ACD
5 core promoter sequence-specific DNA binding GO:0001046 9.48 TP53 NPM1
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.43 RTEL1-TNFRSF6B RTEL1
7 telomerase activity GO:0003720 9.43 TERT TERC DKC1
8 RNA-directed DNA polymerase activity GO:0003964 9.4 TERT TERC
9 telomerase RNA reverse transcriptase activity GO:0003721 9.37 TERT TERC
10 box H/ACA snoRNA binding GO:0034513 9.33 NOP10 NHP2 DKC1
11 telomeric DNA binding GO:0042162 9.26 TINF2 TERT CTC1 ACD
12 telomerase RNA binding GO:0070034 9.1 WRAP53 TERT PARN NOP10 NHP2 DKC1

Sources for Dyskeratosis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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