DC
MCID: DYS007
MIFTS: 67

Dyskeratosis Congenita (DC)

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

Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 12 74 24 52 25 58 36 29 54 6 43 15 39 71
Zinsser-Cole-Engman Syndrome 24 25
Zinsser-Engman-Cole Syndrome 52 58
Dkc 52 58
Dc 52 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:

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

Classifications:

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

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). 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 dyskeratosis congenita, autosomal dominant 1, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Cell Cycle, Mitotic. The drugs Cyclophosphamide and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are anemia and hypermelanotic macule

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.

NIH Rare Diseases : 52 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.

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 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 242)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 35.7 TRUB1 TINF2 TERT TERC SHQ1 NOP10
2 dyskeratosis congenita, autosomal dominant 1 35.5 TINF2 TERT TERC DKC1
3 dyskeratosis congenita, autosomal recessive 1 35.5 TERT NOP10 NHP2
4 dyskeratosis congenita, autosomal recessive 3 35.5 WRAP53 TP53
5 dyskeratosis congenita autosomal recessive 35.2 WRAP53 TP53 TERT RTEL1 PARN NOP10
6 revesz syndrome 35.0 WRAP53 TINF2 TERT TERC RTEL1 NOP10
7 dyskeratosis congenita autosomal dominant 34.9 TINF2 TERT TERC RTEL1 ACD
8 hoyeraal hreidarsson syndrome 34.1 TINF2 TERT TERC RTEL1 PARN DKC1
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 33.6 TERT RTEL1
10 congenital intrauterine infection-like syndrome 33.2 TERC DKC1
11 aplastic anemia 32.5 WRAP53 TP53 TINF2 TERT TERC RTEL1
12 pancytopenia 32.4 TP53 TERT DKC1 CSF2
13 pulmonary fibrosis 32.3 TINF2 TERT TERC RTEL1 PARN
14 inherited bone marrow failure syndromes 32.3 TERT TERC
15 oral leukoplakia 32.2 TP53 TINF2
16 pulmonary fibrosis, idiopathic 31.9 WRAP53 TP53 TINF2 TERT TERC RTEL1
17 fanconi anemia, complementation group a 31.8 TP53 TERC RTEL1 NPM1 DKC1 DCLRE1B
18 coats disease 31.8 WRAP53 TINF2 TERC RTEL1 NOP10 NHP2
19 myelodysplastic syndrome 31.8 TP53 TERT TERC RTEL1 PARN NPM1
20 cerebellar hypoplasia 31.7 TINF2 RTEL1 DKC1
21 osteoporosis 31.2 WRAP53 TP53 TINF2 TERT RTEL1 NOP10
22 shwachman-diamond syndrome 1 31.2 TP53 TINF2 TERC NOP10 NHP2 DKC1
23 pulmonary fibrosis, familial 31.1 TERT TERC
24 diamond-blackfan anemia 31.1 TP53 TINF2 TERT TERC NPM1 NOP10
25 dyskeratosis congenita, autosomal dominant 2 13.0
26 dyskeratosis congenita, autosomal recessive 5 13.0
27 dyskeratosis congenita, autosomal dominant 6 13.0
28 dyskeratosis congenita, autosomal dominant 3 12.9
29 dyskeratosis congenita, autosomal recessive 2 12.9
30 dyskeratosis congenita, autosomal recessive 6 12.9
31 cerebroretinal microangiopathy with calcifications and cysts 1 11.7
32 bone marrow failure syndrome 3 11.4
33 leukoplakia 11.0
34 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.9
35 retinal telangiectasia 10.8 WRAP53 TINF2 TERC NOP10 NHP2 DKC1
36 melanoma, cutaneous malignant 1 10.8 TP53 TINF2 TERT TERC RTEL1 POT1
37 dowling-degos disease 1 10.8
38 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.7
39 deficiency anemia 10.7
40 torch syndrome 10.7 TERC DKC1
41 urinary tract papillary transitional cell benign neoplasm 10.7 TP53 TERT
42 bladder papillary transitional cell neoplasm 10.7 TP53 TERT
43 chronic congestive splenomegaly 10.6 TERT DKC1
44 premature aging 10.6
45 li-fraumeni syndrome 10.6 WRAP53 TP53 TERT
46 graft-versus-host disease 10.6
47 granulosa cell tumor of the ovary 10.6 TP53 TERT
48 thrombocytopenia 10.6
49 keratosis 10.6
50 gastrointestinal carcinoma 10.6

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 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
3 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
4 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
5 abnormality of neutrophils 58 31 hallmark (90%) Very frequent (99-80%) HP:0001874
6 oral leukoplakia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002745
7 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
8 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
9 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
10 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
11 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
12 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
15 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
16 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
17 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
18 tracheoesophageal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0002575
19 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
20 cellular immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005374
21 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
22 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
23 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
24 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
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 rough bone trabeculation 58 31 frequent (33%) Frequent (79-30%) HP:0100670
35 abnormal morphology of female internal genitalia 31 frequent (33%) HP:0000008
36 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
37 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
38 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
39 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
40 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
41 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
42 skin vesicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0200037
43 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
44 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
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 hypoplasia of the maxilla 58 31 occasional (7.5%) Occasional (29-5%) HP:0000327
48 abnormal testis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000035
49 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.9 CSF2 CTC1 DKC1 NHP2 NPM1 PARN
2 embryo MP:0005380 9.86 CSF2 DCLRE1B DKC1 NPM1 POT1 RTEL1
3 mortality/aging MP:0010768 9.86 ACD CSF2 CTC1 DCLRE1B DKC1 NHP2
4 neoplasm MP:0002006 9.17 ACD CSF2 DKC1 NPM1 RTEL1 TERT

Drugs & Therapeutics for Dyskeratosis Congenita

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

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Gastrointestinal Agents Phase 2, Phase 3
9 Methylprednisolone Acetate Phase 2, Phase 3
10 Neuroprotective Agents Phase 2, Phase 3
11 Antiemetics Phase 2, Phase 3
12 glucocorticoids Phase 2, Phase 3
13 Anti-Inflammatory Agents Phase 2, Phase 3
14 Protective Agents Phase 2, Phase 3
15
Nandrolone decanoate Approved, Illicit Phase 1, Phase 2 360-70-3 9677
16
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 1, Phase 2 62-90-8 229455
17
Lenograstim Approved, Investigational Phase 2 135968-09-1
18
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
alemtuzumab Approved, Investigational Phase 2 216503-57-0
23
Mycophenolic acid Approved Phase 2 24280-93-1 446541
24
Melphalan Approved Phase 2 148-82-3 460612 4053
25
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
26
leucovorin Approved Phase 2 58-05-9 6006 143
27
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
28
Busulfan Approved, Investigational Phase 2 55-98-1 2478
29
Hydroxyurea Approved Phase 2 127-07-1 3657
30
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
31
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
33
Nandrolone Experimental, Investigational Phase 1, Phase 2 434-22-0 9904
34
Treosulfan Investigational Phase 2 299-75-2 9296
35 Androgens Phase 1, Phase 2
36 Anabolic Agents Phase 1, Phase 2
37 Adjuvants, Immunologic Phase 2
38 Immunologic Factors Phase 2
39 Antineoplastic Agents, Immunological Phase 2
40 Antitubercular Agents Phase 2
41 Anti-Infective Agents Phase 2
42 Alkylating Agents Phase 2
43 Immunosuppressive Agents Phase 2
44 Antifungal Agents Phase 2
45 Anti-Bacterial Agents Phase 2
46 Cyclosporins Phase 2
47 Dermatologic Agents Phase 2
48 Calcineurin Inhibitors Phase 2
49 Antibiotics, Antitubercular Phase 2
50 Antirheumatic Agents Phase 2

Interventional clinical trials:

(show all 17)
# 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 Male Hormones for Telomere Related Diseases Unknown status NCT02055456 Phase 1, Phase 2 Nandrolone Decanoate
3 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
4 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
5 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
6 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
8 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
9 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
10 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
11 A Pilot Trial Of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan, And Low Dose Total Body Irradiation Completed NCT00856388 fludarabine phosphate;melphalan
12 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
13 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
14 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
15 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
16 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept
17 Telomere and Telomerase Withdrawn NCT01176422

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, Bone Marrow, Skin, Liver, Lung, Eye, Brain

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 959)
# Title Authors PMID Year
1
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 61 24 6
22341970 2012
2
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. 61 6 24
21205863 2011
3
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 24 6 61
18523010 2008
4
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. 24 6 61
17507419 2007
5
Clinical utility gene card for: dyskeratosis congenita. 6 61
21610750 2011
6
Dyskeratosis Congenita 61 6
20301779 2009
7
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 61 24 54
18252230 2008
8
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 54 61 24
15885610 2005
9
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. 54 24 61
14630445 2003
10
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 61 6
11574891 2001
11
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 61 24
26810774 2016
12
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. 24 61
26482878 2015
13
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. 61 24
25940403 2015
14
Successful T-cell-depleted haploidentical hematopoietic stem cell transplantation in a child with dyskeratosis congenita after a fludarabine-based conditioning regimen. 61 24
25374286 2015
15
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. 24 61
25893599 2015
16
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 61 24
25848748 2015
17
Clinical utility gene card for: Dyskeratosis congenita - update 2015. 61 24
25182133 2015
18
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 24 61
25233904 2014
19
Response to androgen therapy in patients with dyskeratosis congenita. 24 61
24666134 2014
20
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 61 24
24009516 2013
21
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. 61 24
23751955 2013
22
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 24 61
23591994 2013
23
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. 61 24
23782086 2013
24
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 24 61
23329068 2013
25
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 61 24
23453664 2013
26
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 61 24
21477109 2012
27
Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? 61 24
22458992 2012
28
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. 61 24
22058220 2012
29
Constitutional telomerase mutations are genetic risk factors for cirrhosis. 61 24
21520173 2011
30
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita. 61 24
21176016 2011
31
Dyskeratosis congenita. 61 24
22160078 2011
32
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. 61 24
20383216 2011
33
The genetics and clinical manifestations of telomere biology disorders. 61 24
21189492 2010
34
Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita. 24 61
21042011 2010
35
Dyskeratosis congenita: the first NIH clinical research workshop. 24 61
19415736 2009
36
Cancer in dyskeratosis congenita. 61 24
19282459 2009
37
Syndromes of telomere shortening. 61 24
19405848 2009
38
Ataxia and pancytopenia caused by a mutation in TINF2. 61 24
18979121 2008
39
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 61 24
18669893 2008
40
All in the family: disclosure of "unwanted" information to an adolescent to benefit a relative. 61 24
18831063 2008
41
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. 61 24
17825470 2008
42
Dyskeratosis Congenita: a historical perspective. 61 24
18054794 2008
43
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. 61 24
17760812 2007
44
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. 24 61
17663679 2007
45
Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure. 24 61
17317590 2007
46
Telomerase mutations in families with idiopathic pulmonary fibrosis. 24 61
17392301 2007
47
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. 24 61
16332973 2006
48
Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen. 24 61
16205731 2005
49
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 61 24
16247010 2005
50
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. 61 24
12676774 2003

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show top 50) (show all 565) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RTEL1 NM_032957.4(RTEL1):c.1207+1G>ASNV Pathogenic 436599 rs1555903332 20:62311300-62311300 20:63679947-63679947
2 RTEL1 NM_032957.4(RTEL1):c.3442del (p.His1148fs)deletion Pathogenic 436598 rs1555814400 20:62326444-62326444 20:63695091-63695091
3 RTEL1 NM_032957.4(RTEL1):c.102+2T>CSNV Pathogenic 496487 rs1555899111 20:62290859-62290859 20:63659506-63659506
4 CTC1 NM_025099.6(CTC1):c.440del (p.Ile147fs)deletion Pathogenic 529178 rs1196342305 17:8141556-8141556 17:8238238-8238238
5 TINF2 NM_001099274.3(TINF2):c.1090dup (p.Leu364fs)duplication Pathogenic 575752 rs1566366182 14:24709507-24709508 14:24240301-24240302
6 CTC1 NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter)SNV Pathogenic 576727 rs1567599296 17:8132727-8132727 17:8229409-8229409
7 CTC1 NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)SNV Pathogenic 576930 rs764019241 17:8139169-8139169 17:8235851-8235851
8 TINF2 NM_001099274.3(TINF2):c.1010del (p.Gly337fs)deletion Pathogenic 579804 rs756029660 14:24709676-24709676 14:24240470-24240470
9 CTC1 NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)SNV Pathogenic 580679 rs767991627 17:8141868-8141868 17:8238550-8238550
10 TERT NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln)SNV Pathogenic 635414 5:1253896-1253896 5:1253781-1253781
11 TERT NM_198253.2(TERT):c.2839T>C (p.Ser947Pro)SNV Pathogenic 635413 5:1264523-1264523 5:1264408-1264408
12 TERT NM_198253.3(TERT):c.1796G>A (p.Arg599Gln)SNV Pathogenic 635412 5:1280427-1280427 5:1280312-1280312
13 CTC1 NM_025099.6(CTC1):c.3099dup (p.Val1034fs)duplication Pathogenic 653653 17:8132676-8132677 17:8229358-8229359
14 CTC1 NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)deletion Pathogenic 647135 17:8133223-8133224 17:8229905-8229906
15 CTC1 NM_025099.6(CTC1):c.248_251dup (p.His84fs)duplication Pathogenic 653432 17:8141893-8141894 17:8238575-8238576
16 CTC1 NM_025099.6(CTC1):c.2831dup (p.His945fs)duplication Pathogenic 840769 17:8133713-8133714 17:8230395-8230396
17 CTC1 NM_025099.6(CTC1):c.1065_1069CCTAT[1] (p.Ser357fs)short repeat Pathogenic 862044 17:8139379-8139383 17:8236061-8236065
18 CTC1 NM_025099.6(CTC1):c.322C>T (p.Arg108Ter)SNV Pathogenic 842299 17:8141823-8141823 17:8238505-8238505
19 CTC1 NM_025099.6(CTC1):c.3019del (p.Leu1007fs)deletion Pathogenic 843472 17:8132757-8132757 17:8229439-8229439
20 CTC1 NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)SNV Pathogenic 844575 17:8133247-8133247 17:8229929-8229929
21 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)SNV Pathogenic 5627 rs121918545 14:24709842-24709842 14:24240636-24240636
22 CTC1 NM_025099.6(CTC1):c.724_727del (p.Lys242fs)deletion Pathogenic 30995 rs199473674 17:8140758-8140761 17:8237440-8237443
23 CTC1 NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)SNV Pathogenic 30996 rs202138550 17:8133261-8133261 17:8229943-8229943
24 CTC1 NM_025099.6(CTC1):c.2831del (p.Pro944fs)deletion Pathogenic 31000 rs199473677 17:8133714-8133714 17:8230396-8230396
25 CTC1 NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del)short repeat Pathogenic 40250 rs199473679 17:8133264-8133266 17:8229946-8229948
26 RTEL1 NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter)SNV Pathogenic 42020 rs398123017 20:62324564-62324564 20:63693211-63693211
27 PARN NM_002582.4(PARN):c.1148C>T (p.Ala383Val)SNV Pathogenic 180661 rs786200999 16:14676082-14676082 16:14582225-14582225
28 PARN NM_002582.4(PARN):c.918+1G>TSNV Pathogenic 180662 rs756132866 16:14687157-14687157 16:14593300-14593300
29 PARN NM_002582.4(PARN):c.863dup (p.Asn288fs)duplication Pathogenic 190290 rs786201001 16:14687212-14687213 16:14593355-14593356
30 PARN NM_002582.4(PARN):c.659+4_659+7delshort repeat Pathogenic 190291 rs759131762 16:14702131-14702134 16:14608274-14608277
31 DKC1 NM_001363.5(DKC1):c.146C>T (p.Thr49Met)SNV Pathogenic 11591 rs121912304 X:153993780-153993780 X:154765505-154765505
32 DKC1 NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)SNV Pathogenic 11587 rs121912288 X:154001427-154001427 X:154773152-154773152
33 RTEL1 NM_016434.3(RTEL1):c.2413+1G>CSNV Pathogenic/Likely pathogenic 217284 rs776744306 20:62321795-62321795 20:63690442-63690442
34 RTEL1 NM_016434.3(RTEL1):c.1482-1G>ASNV Pathogenic/Likely pathogenic 217518 rs863225129 20:62319289-62319289 20:63687936-63687936
35 RTEL1 NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)SNV Pathogenic/Likely pathogenic 42018 rs201540674 20:62326972-62326972 20:63695619-63695619
36 RTEL1 NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile)SNV Pathogenic/Likely pathogenic 42019 rs370343781 20:62319118-62319118 20:63687765-63687765
37 RTEL1 NM_032957.4(RTEL1):c.3028C>T (p.Arg1010Ter)SNV Pathogenic/Likely pathogenic 65417 rs373740199 20:62324600-62324600 20:63693247-63693247
38 CTC1 NM_025099.6(CTC1):c.775G>A (p.Val259Met)SNV Pathogenic/Likely pathogenic 30998 rs387907080 17:8140710-8140710 17:8237392-8237392
39 RTEL1 NM_016434.3(RTEL1):c.2812del (p.Leu938fs)deletion Pathogenic/Likely pathogenic 577500 rs1449687529 20:62324313-62324313 20:63692960-63692960
40 DKC1 NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)SNV Likely pathogenic 574416 rs1569558474 X:153993783-153993783 X:154765508-154765508
41 CTC1 NM_025099.6(CTC1):c.2758+1G>TSNV Likely pathogenic 529185 rs200609323 17:8133880-8133880 17:8230562-8230562
42 TERT NM_198253.2(TERT):c.(?_1574)_(1769_?)deldeletion Likely pathogenic 506225 5:1282544-1282739 5:1282429-1282624
43 RTEL1 NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser)SNV Likely pathogenic 436596 rs1555899096 20:62290804-62290804 20:63659451-63659451
44 TERT NM_198253.3(TERT):c.2058C>G (p.Ile686Met)SNV Likely pathogenic 436992 rs745590324 5:1279478-1279478 5:1279363-1279363
45 TERT NM_198253.3(TERT):c.2011C>G (p.Arg671Gly)SNV Likely pathogenic 436994 rs1060503011 5:1279525-1279525 5:1279410-1279410
46 RTEL1 NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp)SNV Likely pathogenic 42021 rs398123018 20:62324513-62324513 20:63693160-63693160
47 DKC1 NM_001363.5(DKC1):c.109_111del (p.Leu37del)deletion Likely pathogenic 11583 rs137854489 X:153993741-153993743 X:154765466-154765468
48 DKC1 NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del)short repeat Conflicting interpretations of pathogenicity 238951 rs782576893 X:154005089-154005091 X:154776814-154776816
49 NHP2 NM_017838.3(NHP2):c.160+10A>TSNV Conflicting interpretations of pathogenicity 353027 rs376220034 5:177580649-177580649 5:178153648-178153648
50 TERT NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)SNV Conflicting interpretations of pathogenicity 350518 rs373400596 5:1255409-1255409 5:1255294-1255294

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 nucleus GO:0005634 10.43 WRAP53 USB1 TRUB1 TP53 TINF2 TERT
2 nucleoplasm GO:0005654 10.33 WRAP53 USB1 TP53 TINF2 TERT SHQ1
3 nucleolus GO:0005730 10.19 TP53 TERT SHQ1 PARN NPM1 NOP10
4 chromosome GO:0005694 10.05 WRAP53 TINF2 TERT POT1 DCLRE1B CTC1
5 nuclear body GO:0016604 10 WRAP53 TP53 TINF2 NOP10 DCLRE1B ACD
6 Cajal body GO:0015030 9.87 WRAP53 TERC SHQ1 NOP10 NHP2 GAR1
7 nuclear chromosome, telomeric region GO:0000784 9.86 TINF2 TERT POT1 NHP2 GAR1 DCLRE1B
8 nuclear telomere cap complex GO:0000783 9.73 TINF2 TERT POT1 ACD
9 box H/ACA snoRNP complex GO:0031429 9.71 NOP10 NHP2 GAR1 DKC1
10 shelterin complex GO:0070187 9.67 TINF2 POT1 ACD
11 box H/ACA scaRNP complex GO:0072589 9.67 NOP10 NHP2 GAR1 DKC1
12 small nucleolar ribonucleoprotein complex GO:0005732 9.56 NOP10 NHP2
13 telomerase catalytic core complex GO:0000333 9.55 TERT TERC
14 box H/ACA telomerase RNP complex GO:0090661 9.55 TERC NOP10 NHP2 GAR1 DKC1
15 telomerase holoenzyme complex GO:0005697 9.5 WRAP53 TERT TERC NOP10 NHP2 GAR1
16 chromosome, telomeric region GO:0000781 9.28 WRAP53 TINF2 TERT TERC RTEL1 POT1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.04 WRAP53 TP53 RTEL1 DCLRE1B CTC1
2 rRNA processing GO:0006364 9.91 NOP10 NHP2 GAR1 DKC1
3 ribosome biogenesis GO:0042254 9.85 NOP10 NHP2 GAR1 DKC1
4 positive regulation of telomere maintenance via telomerase GO:0032212 9.81 POT1 PARN DKC1 ACD
5 negative regulation of telomere maintenance via telomerase GO:0032211 9.73 TINF2 POT1 CTC1 ACD
6 positive regulation of telomerase activity GO:0051973 9.72 WRAP53 POT1 PARN DKC1 ACD
7 RNA modification GO:0009451 9.71 TRUB1 PARN DKC1
8 pseudouridine synthesis GO:0001522 9.71 TRUB1 NOP10 GAR1 DKC1
9 replicative senescence GO:0090399 9.7 TP53 TERT CTC1
10 establishment of protein localization to telomere GO:0070200 9.67 TERT POT1 ACD
11 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.67 SHQ1 NOP10 NHP2 DKC1
12 telomere assembly GO:0032202 9.65 TINF2 POT1 ACD
13 telomere capping GO:0016233 9.65 TINF2 POT1 DCLRE1B CTC1 ACD
14 protein localization to chromosome, telomeric region GO:0070198 9.64 TINF2 ACD
15 negative regulation of telomerase activity GO:0051974 9.63 TP53 POT1
16 positive regulation of establishment of protein localization to telomere GO:1904851 9.63 WRAP53 DKC1
17 snRNA pseudouridine synthesis GO:0031120 9.63 NOP10 NHP2 DKC1
18 bone marrow development GO:0048539 9.62 TP53 CTC1
19 telomere maintenance via telomere lengthening GO:0010833 9.62 DCLRE1B CTC1
20 protection from non-homologous end joining at telomere GO:0031848 9.61 DCLRE1B ACD
21 mRNA pseudouridine synthesis GO:1990481 9.6 TRUB1 DKC1
22 scaRNA localization to Cajal body GO:0090666 9.59 WRAP53 DKC1
23 regulation of telomerase RNA localization to Cajal body GO:1904872 9.58 PARN DKC1
24 telomerase RNA stabilization GO:0090669 9.58 PARN DKC1
25 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.57 NOP10 GAR1
26 box H/ACA snoRNA 3'-end processing GO:0000495 9.56 PARN DKC1
27 rRNA pseudouridine synthesis GO:0031118 9.46 NOP10 NHP2 GAR1 DKC1
28 telomere maintenance GO:0000723 9.43 TERT RTEL1 POT1 DCLRE1B CTC1 ACD
29 telomere maintenance via telomerase GO:0007004 9.23 WRAP53 TERT TERC POT1 NOP10 NHP2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 WRAP53 TP53 TINF2 TERT TERC SHQ1
2 RNA binding GO:0003723 10.02 WRAP53 TRUB1 TERT PARN NPM1 NOP10
3 chaperone binding GO:0051087 9.69 WRAP53 TP53 TERT
4 telomeric DNA binding GO:0042162 9.55 TINF2 TERT POT1 CTC1 ACD
5 core promoter sequence-specific DNA binding GO:0001046 9.52 TP53 NPM1
6 DNA polymerase binding GO:0070182 9.5 TERC RTEL1 ACD
7 pseudouridine synthase activity GO:0009982 9.49 TRUB1 DKC1
8 G-rich strand telomeric DNA binding GO:0098505 9.48 POT1 CTC1
9 RNA-directed DNA polymerase activity GO:0003964 9.43 TERT TERC
10 telomerase activity GO:0003720 9.43 TERT TERC DKC1
11 telomerase RNA reverse transcriptase activity GO:0003721 9.4 TERT TERC
12 box H/ACA snoRNA binding GO:0034513 9.26 NOP10 NHP2 GAR1 DKC1
13 telomerase RNA binding GO:0070034 9.17 WRAP53 TERT PARN NOP10 NHP2 GAR1

Sources for Dyskeratosis Congenita

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