DC
MCID: DYS007
MIFTS: 69

Dyskeratosis Congenita (DC)

Categories: Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Dyskeratosis Congenita

MalaCards integrated aliases for Dyskeratosis Congenita:

Name: Dyskeratosis Congenita 11 19 19 42 58 75 28 53 5 43 14 38 38 71
Dyskeratosis Congenita, Autosomal Dominant 53 71
Dyskeratosis Congenita Autosomal Dominant 19 5
Zinsser-Engman-Cole Syndrome 19 58
Dkc 19 58
Dc 19 58
Autosomal Dominant Dyskeratosis Congenita 19
Dyskeratosis Congenita Scoggins Type 19
X-Linked Dyskeratosis Congenita 71
Hoyeraal-Hreidarsson Syndrome 71
Zinsser-Cole-Engman Syndrome 42
Dkca 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy,Neonatal 58

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: 42 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 dyskeratosis congenita, autosomal dominant, 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 Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and bone, and related phenotypes are anemia and abnormal fingernail morphology

GARD: 19 Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. The classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.

Disease Ontology: 11 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.

Orphanet: 58 A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Wikipedia: 75 Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive... more...

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 Recessive 8
Dyskeratosis Congenita Autosomal Recessive

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

(show top 50) (show all 296)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, x-linked 33.8 TINF2 TERT TERC NOP10 NHP2 DKC1
2 revesz syndrome 33.6 WRAP53 TINF2 TERT TERC RTEL1 PARN
3 dyskeratosis congenita, autosomal dominant 1 33.6 WRAP53 TINF2 TERT TERC NOP10 NHP2
4 dyskeratosis congenita, autosomal recessive 1 33.5 TERC NOP10 NHP2 ACD
5 dyskeratosis congenita autosomal recessive 33.4 WRAP53 TERT RTEL1 PARN NOP10 NHP2
6 dyskeratosis congenita, autosomal dominant 3 33.4 TINF2 ACD
7 dyskeratosis congenita, autosomal recessive 5 33.3 RTEL1-TNFRSF6B RTEL1
8 hoyeraal hreidarsson syndrome 33.1 TINF2 TERT TERC RTEL1 PARN DKC1
9 dyskeratosis congenita, digenic 33.1 TYMS ENOSF1
10 aplastic anemia 32.4 WRAP53 TINF2 TERT TERC RTEL1 PARN
11 cerebroretinal microangiopathy with calcifications and cysts 1 32.4 PFAS CTC1
12 leukemia, acute myeloid 32.3 TERT RTEL1-TNFRSF6B RTEL1 NPM1 MECOM
13 pulmonary fibrosis 32.0 TINF2 TERT TERC RTEL1 PARN NHP2
14 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 31.9 TERC LOC110806306
15 fanconi anemia, complementation group a 31.7 TINF2 TERC RTEL1 NPM1 DKC1
16 interstitial lung disease 2 31.7 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 PARN
17 myelodysplastic syndrome 31.6 TERT TERC RTEL1 PARN NPM1 MECOM
18 pancytopenia 31.5 TERT MECOM DKC1
19 coats disease 31.5 WRAP53 TINF2 TERC RTEL1 PARN NOP10
20 cerebellar hypoplasia 31.3 TINF2 RTEL1 DKC1
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 31.0 RTEL1-TNFRSF6B RTEL1
22 entropion 30.9 WRAP53 NOP10 DKC1
23 diamond-blackfan anemia 30.9 WRAP53 TINF2 TERT TERC RTEL1 PARN
24 shwachman-diamond syndrome 1 30.8 TINF2 TERT TERC NOP10 NHP2 DKC1
25 nonspecific interstitial pneumonia 30.7 TERC RTEL1 PARN
26 dyskeratosis congenita, autosomal dominant 2 12.0
27 dyskeratosis congenita, autosomal dominant 6 11.9
28 dyskeratosis congenita, autosomal recessive 6 11.8
29 dyskeratosis congenita, autosomal recessive 3 11.8
30 dyskeratosis congenita, autosomal recessive 2 11.8
31 dyskeratosis congenita, autosomal recessive 8 11.5
32 dyskeratosis congenita and related telomere biology disorders 11.3
33 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.2
34 bone marrow failure syndrome 3 11.1
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 11.1
36 leukoplakia 11.0
37 pigmentation anomaly of the skin 10.9
38 oral leukoplakia 10.8
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8
40 deficiency anemia 10.8
41 inherited bone marrow failure syndromes 10.7
42 melanoma, cutaneous malignant 1 10.6 WRAP53 TINF2 TERT TERC RTEL1 NOP10
43 retinal telangiectasia 10.6 WRAP53 TINF2 NOP10 NHP2 DKC1 CTC1
44 graft-versus-host disease 10.6
45 premature aging 10.6
46 idiopathic interstitial pneumonia 10.5 TERT TERC RTEL1 PARN
47 turner syndrome 10.5
48 microcephaly 10.5
49 respiratory failure 10.5
50 skin disease 10.4

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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
2 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
3 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001873
4 hypermelanotic macule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001034
5 abnormality of neutrophils 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001874
6 abnormal blistering of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008066
7 oral leukoplakia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002745
8 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
9 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
10 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
11 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
12 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
13 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
14 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
15 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
16 skin ulcer 58 30 Frequent (33%) Frequent (79-30%)
HP:0200042
17 telangiectasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0100585
18 cellular immunodeficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0005374
19 aplasia/hypoplasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0008065
20 abnormal morphology of female internal genitalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000008
21 tracheoesophageal fistula 58 30 Frequent (33%) Frequent (79-30%)
HP:0002575
22 taurodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000679
23 periodontitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000704
24 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
25 hypopigmented skin patches 58 30 Frequent (33%) Frequent (79-30%)
HP:0001053
26 abnormality of the pharynx 58 30 Frequent (33%) Frequent (79-30%)
HP:0000600
27 anorectal anomaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012732
28 hypodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000668
29 urethral stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008661
30 abnormality of coagulation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001928
31 sparse hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0008070
32 bone marrow hypocellularity 58 30 Frequent (33%) Frequent (79-30%)
HP:0005528
33 esophageal stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0010450
34 aplastic/hypoplastic toenail 58 30 Frequent (33%) Frequent (79-30%)
HP:0010624
35 coarse metaphyseal trabecularization 30 Frequent (33%) HP:0100670
36 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
37 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
38 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
39 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
40 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
41 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
42 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
43 avascular necrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010885
44 palmoplantar keratoderma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000982
45 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
46 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
47 cirrhosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001394
48 abnormal eyelash morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000499
49 abnormal testis morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000035
50 premature graying of hair 58 30 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 mortality/aging MP:0010768 9.5 ACD CTC1 DKC1 INPP4A MECOM NHP2
2 neoplasm MP:0002006 9.43 ACD DKC1 MECOM NPM1 RTEL1 TERT

Drugs & Therapeutics for Dyskeratosis Congenita

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
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 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 4159 6741
6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7 4897
7 Neuroprotective Agents Phase 2, Phase 3
8 Antiemetics Phase 2, Phase 3
9 Anti-Inflammatory Agents Phase 2, Phase 3
10 glucocorticoids Phase 2, Phase 3
11
Methylprednisolone Acetate Phase 2, Phase 3 584547
12 Gastrointestinal Agents Phase 2, Phase 3
13 Protective Agents Phase 2, Phase 3
14
Lenograstim Approved, Investigational Phase 2 135968-09-1
15
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
16
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
17
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
18
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
21
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
22 Adjuvants, Immunologic Phase 2
23 Antirheumatic Agents Phase 2
24 Alkylating Agents Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26 Immunosuppressive Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Calcineurin Inhibitors Phase 2
30 Cyclosporins Phase 2
31 Antifungal Agents Phase 2
32 Antitubercular Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Hormones Phase 1, Phase 2
35 Hormone Antagonists Phase 1, Phase 2
36 Estrogens Phase 1, Phase 2
37 Estrogen Receptor Antagonists Phase 1, Phase 2
38 Estrogen Antagonists Phase 1, Phase 2
39
Abatacept Approved Phase 1 332348-12-6
40 Immune Checkpoint Inhibitors Phase 1
41
Pancrelipase Approved, Investigational 53608-75-6 8519
42
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
43
Alefacept Approved, Investigational, Withdrawn 222535-22-0
44 Pancreatin
45 Antineoplastic Agents, Alkylating
46 Antilymphocyte Serum
47 Thymoglobulin
48 Immunologic Factors
49 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;Tacrolimus
4 The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis Recruiting NCT04638517 Phase 2 Danazol;Placebo
5 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
6 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
7 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
8 Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD) Recruiting NCT04959188
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 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
12 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
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 28

Anatomical Context for Dyskeratosis Congenita

Organs/tissues related to Dyskeratosis Congenita:

MalaCards : Bone Marrow, Skin, Bone, Eye, Cerebellum, Retina, Liver

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 1113)
# Title Authors PMID Year
1
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 53 62 5
19734544 2009
2
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. 53 62 5
19835419 2009
3
Variable expression of Dkc1 mutations in mice. 53 62 5
19391112 2009
4
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. 53 62 5
18931339 2009
5
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 53 62 5
18460650 2008
6
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 53 62 5
18042801 2008
7
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 53 62 5
18252230 2008
8
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 53 62 5
17640862 2007
9
Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. 53 62 5
15886322 2005
10
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. 53 62 5
15319288 2004
11
Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 53 62 5
15304085 2004
12
Telomerase RNA structure and function: implications for dyskeratosis congenita. 53 62 5
15082312 2004
13
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 53 62 5
11574891 2001
14
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 53 62 5
10364516 1999
15
Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family. 62 5
31119896 2019
16
Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure. 62 5
30891747 2019
17
A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. 62 5
29742735 2018
18
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. 62 5
26859482 2016
19
Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol. 62 5
26083318 2015
20
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 62 5
25047097 2015
21
Triallelic and epigenetic-like inheritance in human disorders of telomerase. 62 5
26024875 2015
22
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 62 5
25848748 2015
23
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases. 62 5
25455995 2015
24
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients. 62 5
25992652 2015
25
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. 62 5
25099625 2014
26
RTEL1: functions of a disease-associated helicase. 62 5
24582487 2014
27
Molecular basis of telomere syndrome caused by CTC1 mutations. 62 5
24115768 2013
28
Many disease-associated variants of hTERT retain high telomerase enzymatic activity. 62 5
23901009 2013
29
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 62 5
24009516 2013
30
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. 62 5
23538340 2013
31
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 62 5
23329068 2013
32
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 62 5
23453664 2013
33
Mutations in the telomere capping complex in bone marrow failure and related syndromes. 62 5
22899577 2013
34
CTC1 Mutations in a patient with dyskeratosis congenita. 62 5
22532422 2012
35
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. 62 5
21477109 2012
36
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 62 5
22341970 2012
37
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. 62 5
22058290 2012
38
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 62 5
22267198 2012
39
A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. 62 5
21601430 2011
40
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. 62 5
21536674 2011
41
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 62 5
21602826 2011
42
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 62 5
21931702 2011
43
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. 62 5
20502709 2010
44
Identification of DKC1 gene mutation in an Indian patient. 62 5
20091372 2010
45
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. 62 5
20022961 2010
46
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 62 5
19760749 2009
47
Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy. 62 5
19633571 2009
48
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. 62 5
18669893 2008
49
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita. 62 5
18302718 2008
50
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 62 5
17785587 2007

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

5 (show top 50) (show all 3093)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC NR_001566.1(TERC):n.374_1194del821 DEL Pathogenic
7319 rs1553915517 GRCh37: 3:169481651-169482471
GRCh38: 3:169763863-169764683
2 TERC NR_001566.1(TERC):n.408C>G SNV Pathogenic
7320 rs199422284 GRCh37: 3:169482441-169482441
GRCh38: 3:169764653-169764653
3 TERC NR_001566.1(TERC):n.100T>A SNV Pathogenic
39280 rs199422269 GRCh37: 3:169482749-169482749
GRCh38: 3:169764961-169764961
4 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic
39282 rs199422274 GRCh37: 3:169482706-169482706
GRCh38: 3:169764918-169764918
5 overlap with 3 genes NM_032487.4(ACTRT3):c.831_*2687del2976 DEL Pathogenic
40977 GRCh37: 3:169482529-169485504
GRCh38: 3:169764741-169767716
6 PARN NM_002582.4(PARN):c.1148C>T (p.Ala383Val) SNV Pathogenic
180661 rs786200999 GRCh37: 16:14676082-14676082
GRCh38: 16:14582225-14582225
7 PARN NM_002582.4(PARN):c.918+1G>T SNV Pathogenic
180662 rs756132866 GRCh37: 16:14687157-14687157
GRCh38: 16:14593300-14593300
8 PARN NM_002582.4(PARN):c.863dup (p.Asn288fs) DUP Pathogenic
180663 rs786201001 GRCh37: 16:14687212-14687213
GRCh38: 16:14593355-14593356
9 TERC NR_001566.1(TERC):n.96_97del DEL Pathogenic
39301 rs199422267 GRCh37: 3:169482752-169482753
GRCh38: 3:169764964-169764965
10 TERC NR_001566.1(TERC):n.79del DEL Pathogenic
39300 rs199422266 GRCh37: 3:169482770-169482770
GRCh38: 3:169764982-169764982
11 TERC and overlap with 1 gene(s) NR_001566.1(TERC):n.53_87del DEL Pathogenic
39299 rs199422264 GRCh37: 3:169482762-169482796
GRCh38: 3:169764974-169765008
12 LOC110806306, TERC NR_001566.1(TERC):n.48A>G SNV Pathogenic
39297 rs199422262 GRCh37: 3:169482801-169482801
GRCh38: 3:169765013-169765013
13 TERC NR_001566.1(TERC):n.410C>G SNV Pathogenic
39295 rs199422286 GRCh37: 3:169482439-169482439
GRCh38: 3:169764651-169764651
14 LOC110806306, TERC NR_001566.1(TERC):n.2G>C SNV Pathogenic
39288 rs199422257 GRCh37: 3:169482847-169482847
GRCh38: 3:169765059-169765059
15 TERC NR_001566.1(TERC):n.216_229del DEL Pathogenic
39285 rs199422278 GRCh37: 3:169482620-169482633
GRCh38: 3:169764832-169764845
16 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic
7322 rs199422277 GRCh37: 3:169482645-169482645
GRCh38: 3:169764857-169764857
17 TERT TERT:c.1710G>Y (p.Lys570Asn) SNV Pathogenic
39103 rs1554041299 GRCh37: 5:1282603-1282603
GRCh38: 5:1282488-1282488
18 TERT NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) SNV Pathogenic
635412 rs372511089 GRCh37: 5:1280427-1280427
GRCh38: 5:1280312-1280312
19 TERT NM_198253.3(TERT):c.2839T>C (p.Ser947Pro) SNV Pathogenic
635413 rs915854031 GRCh37: 5:1264523-1264523
GRCh38: 5:1264408-1264408
20 TERT NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) SNV Pathogenic
635414 rs1196160200 GRCh37: 5:1253896-1253896
GRCh38: 5:1253781-1253781
21 RTEL1-TNFRSF6B, RTEL1 NM_001283009.2(RTEL1):c.102+2T>C SNV Pathogenic
496487 rs1555899111 GRCh37: 20:62290859-62290859
GRCh38: 20:63659506-63659506
22 TINF2 NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) DUP Pathogenic
575752 rs1566366182 GRCh37: 14:24709507-24709508
GRCh38: 14:24240301-24240302
23 CTC1 NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) SNV Pathogenic
580679 rs767991627 GRCh37: 17:8141868-8141868
GRCh38: 17:8238550-8238550
24 CTC1 NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) SNV Pathogenic
40251 rs397514660 GRCh37: 17:8139594-8139594
GRCh38: 17:8236276-8236276
25 CTC1 NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) SNV Pathogenic
987292 rs1169567839 GRCh37: 17:8140815-8140815
GRCh38: 17:8237497-8237497
26 CTC1 NM_025099.6(CTC1):c.812G>A (p.Trp271Ter) SNV Pathogenic
1397961 GRCh37: 17:8139641-8139641
GRCh38: 17:8236323-8236323
27 CTC1 NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) SNV Pathogenic
1322169 GRCh37: 17:8146350-8146350
GRCh38: 17:8243032-8243032
28 CTC1 NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) SNV Pathogenic
1322170 GRCh37: 17:8134682-8134682
GRCh38: 17:8231364-8231364
29 CTC1 NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs) DUP Pathogenic
1433246 GRCh37: 17:8133238-8133239
GRCh38: 17:8229920-8229921
30 CTC1 NM_025099.6(CTC1):c.303_316del (p.Asn102fs) DEL Pathogenic
1456511 GRCh37: 17:8141829-8141842
GRCh38: 17:8238511-8238524
31 CTC1 NC_000017.10:g.(?_8131498)_(8151354_?)del DEL Pathogenic
1454320 GRCh37: 17:8131498-8151354
GRCh38:
32 CTC1 NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) DUP Pathogenic
1455096 GRCh37: 17:8137907-8137908
GRCh38: 17:8234589-8234590
33 CTC1 NC_000017.10:g.(?_8146293)_(8151354_?)del DEL Pathogenic
1460240 GRCh37: 17:8146293-8151354
GRCh38:
34 CTC1 NM_025099.6(CTC1):c.1360del (p.Glu454fs) DEL Pathogenic
1452442 GRCh37: 17:8138450-8138450
GRCh38: 17:8235132-8235132
35 CTC1 NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter) SNV Pathogenic
1453166 GRCh37: 17:8139199-8139199
GRCh38: 17:8235881-8235881
36 CTC1 NM_025099.6(CTC1):c.880C>T (p.Gln294Ter) SNV Pathogenic
1451275 GRCh37: 17:8139573-8139573
GRCh38: 17:8236255-8236255
37 CTC1 NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs) DEL Pathogenic
1405899 GRCh37: 17:8135314-8135315
GRCh38: 17:8231996-8231997
38 CTC1 NM_025099.6(CTC1):c.1042del (p.Ser348fs) DEL Pathogenic
1442522 GRCh37: 17:8139411-8139411
GRCh38: 17:8236093-8236093
39 CTC1 NM_025099.6(CTC1):c.2112dup (p.Pro705fs) DUP Pathogenic
1456384 GRCh37: 17:8135493-8135494
GRCh38: 17:8232175-8232176
40 CTC1 NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter) SNV Pathogenic
1439373 GRCh37: 17:8136251-8136251
GRCh38: 17:8232933-8232933
41 CTC1 NM_025099.6(CTC1):c.2880dup (p.Leu961fs) DUP Pathogenic
1447492 GRCh37: 17:8133664-8133665
GRCh38: 17:8230346-8230347
42 CTC1 NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter) SNV Pathogenic
844575 rs62637613 GRCh37: 17:8133247-8133247
GRCh38: 17:8229929-8229929
43 CTC1 NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) MICROSAT Pathogenic
862044 rs773120259 GRCh37: 17:8139379-8139383
GRCh38: 17:8236061-8236065
44 CTC1 NM_025099.6(CTC1):c.2888del (p.Pro963fs) DEL Pathogenic
957807 rs1987105095 GRCh37: 17:8133657-8133657
GRCh38: 17:8230339-8230339
45 CTC1 NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter) SNV Pathogenic
960429 rs1201426650 GRCh37: 17:8135480-8135480
GRCh38: 17:8232162-8232162
46 CTC1 NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) SNV Pathogenic
576727 rs1567599296 GRCh37: 17:8132727-8132727
GRCh38: 17:8229409-8229409
47 CTC1 NM_025099.6(CTC1):c.2561_2573del (p.Val854fs) DEL Pathogenic
944886 rs1987208048 GRCh37: 17:8134690-8134702
GRCh38: 17:8231372-8231384
48 CTC1 NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs) DEL Pathogenic
1071034 GRCh37: 17:8137920-8137923
GRCh38: 17:8234602-8234605
49 CTC1 NM_025099.6(CTC1):c.458G>A (p.Trp153Ter) SNV Pathogenic
1072838 GRCh37: 17:8141538-8141538
GRCh38: 17:8238220-8238220
50 CTC1 NM_025099.6(CTC1):c.591del (p.Val198fs) DEL Pathogenic
1076259 GRCh37: 17:8141405-8141405
GRCh38: 17:8238087-8238087

Cosmic variations for Dyskeratosis Congenita:

8 (show top 50) (show all 23978)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM152022165 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 8
2 COSM136837388 YES1 skin,eye,carcinoma,squamous cell carcinoma c.866G>A p.G289E 18:743289-743289 8
3 COSM89895645 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 8
4 COSM90652033 VHL skin,head neck,carcinoma,squamous cell carcinoma c.337C>T p.R113* 3:10142184-10142184 8
5 COSM90655726 VHL skin,head neck,carcinoma,squamous cell carcinoma c.341-3220C>T p.? 3:10146567-10146567 8
6 COSM88291561 VHL skin,head neck,carcinoma,squamous cell carcinoma c.337C>T p.R113* 3:10142184-10142184 8
7 COSM88294994 VHL skin,head neck,carcinoma,squamous cell carcinoma c.394C>T p.Q132* 3:10146567-10146567 8
8 COSM150677496 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2050C>T p.R684C 9:132903794-132903794 8
9 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 8
10 COSM149039828 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 8
11 COSM150537076 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 8
12 COSM151334154 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 8
13 COSM111041127 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 8
14 COSM147983627 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2062C>T p.R688C 9:132903794-132903794 8
15 COSM148035069 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2047C>T p.R683C 9:132903794-132903794 8
16 COSM151875202 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 8
17 COSM133087519 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.1912C>T p.R638C 9:132903794-132903794 8
18 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 8
19 COSM144087273 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.265C>T p.R89W 17:7674221-7674221 8
20 COSM87907118 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.703A>G p.N235D 17:7674260-7674260 8
21 COSM144659648 TP53 skin,chest,carcinoma,squamous cell carcinoma c.716C>T p.P239L 17:7673787-7673787 8
22 COSM144034343 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.694A>T p.M232L 17:7674236-7674236 8
23 COSM144075367 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.*79C>T p.? 17:7670649-7670649 8
24 COSM111758576 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 8
25 COSM111841107 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.655C>T p.P219S 17:7674876-7674876 8
26 COSM143959391 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.499G>T p.E167* 17:7673552-7673552 8
27 COSM144315259 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.589T>A p.Y197N 17:7674257-7674257 8
28 COSM143392126 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.556-1G>C p.? 17:7674291-7674291 8
29 COSM93183281 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 8
30 COSM144651436 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.625C>T p.R209W 17:7674221-7674221 8
31 COSM122413056 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.664C>T p.Q222* 17:7670649-7670649 8
32 COSM144662686 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.715C>T p.P239S 17:7673788-7673788 8
33 COSM144020497 TP53 skin,eye,carcinoma,squamous cell carcinoma c.806G>C p.R269T 17:7673781-7673781 8
34 COSM142639191 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.538C>T p.P180S 17:7674876-7674876 8
35 COSM122271741 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.352C>T p.P118S 17:7674215-7674215 8
36 COSM144313019 TP53 skin,eye,carcinoma,squamous cell carcinoma c.470G>T p.R157L 17:7674944-7674944 8
37 COSM111766659 TP53 skin,chest,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 8
38 COSM144104762 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.250A>T p.M84L 17:7674236-7674236 8
39 COSM144094869 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.355C>T p.P119S 17:7673788-7673788 8
40 COSM106063640 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 8
41 COSM105676215 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.755T>C p.L252P 17:7674208-7674208 8
42 COSM122288318 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.580G>T p.E194* 17:7673552-7673552 8
43 COSM143382039 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.715C>T p.P239S 17:7673788-7673788 8
44 COSM143394916 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.610A>T p.M204L 17:7674236-7674236 8
45 COSM142967171 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.483C>T p.A161= 17:7675129-7675129 8
46 COSM144309924 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 8
47 COSM106056129 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.746G>T p.R249M 17:7674217-7674217 8
48 COSM144670057 TP53 skin,head neck,carcinoma,squamous cell carcinoma c.418C>A p.H140N 17:7675077-7675077 8
49 COSM142560281 TP53 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 8
50 COSM111765517 TP53 skin,chest,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 8

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 12)
# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 9.93 TERT NPM1 NOP10 NHP2 DKC1
2 chromosome GO:0005694 9.91 WRAP53 TINF2 TERT CTC1 ACD
3 Cajal body GO:0015030 9.91 WRAP53 TERC NOP10 NHP2 DKC1
4 nuclear telomere cap complex GO:0000783 9.88 TINF2 TERT ACD
5 chromosome, telomeric region GO:0000781 9.86 ACD CTC1 NHP2 RTEL1 TERC TERT
6 sno(s)RNA-containing ribonucleoprotein complex GO:0005732 9.8 NOP10 NHP2
7 box H/ACA snoRNP complex GO:0031429 9.8 NOP10 NHP2 DKC1
8 shelterin complex GO:0070187 9.78 TINF2 ACD
9 box H/ACA telomerase RNP complex GO:0090661 9.76 TERC NOP10 NHP2 DKC1
10 telomerase catalytic core complex GO:0000333 9.73 TERC TERT
11 box H/ACA scaRNP complex GO:0072589 9.73 DKC1 NHP2 NOP10
12 telomerase holoenzyme complex GO:0005697 9.47 WRAP53 TERT TERC NOP10 NHP2 DKC1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 10.02 TERC TERT TYMS
2 positive regulation of telomere maintenance via telomerase GO:0032212 9.99 PARN DKC1 ACD
3 negative regulation of telomere maintenance via telomerase GO:0032211 9.93 ACD CTC1 TINF2
4 positive regulation of telomerase activity GO:0051973 9.92 WRAP53 PARN DKC1 ACD
5 protein localization to chromosome, telomeric region GO:0070198 9.91 TINF2 ACD
6 positive regulation of telomere maintenance GO:0032206 9.91 TINF2 RTEL1 ACD
7 telomere maintenance GO:0000723 9.91 ACD CTC1 RTEL1 RTEL1-TNFRSF6B TERT
8 positive regulation of establishment of protein localization to telomere GO:1904851 9.9 WRAP53 DKC1
9 positive regulation of protein localization to nucleolus GO:1904751 9.88 TERT NPM1
10 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.88 NOP10 NHP2 DKC1
11 establishment of protein localization to telomere GO:0070200 9.87 TERT ACD
12 scaRNA localization to Cajal body GO:0090666 9.86 WRAP53 DKC1
13 telomere capping GO:0016233 9.85 TINF2 CTC1 ACD
14 regulation of telomerase RNA localization to Cajal body GO:1904872 9.84 PARN DKC1
15 telomerase RNA stabilization GO:0090669 9.83 PARN DKC1
16 telomere assembly GO:0032202 9.8 TINF2 ACD
17 ribosome biogenesis GO:0042254 9.79 NOP10 NHP2 DKC1
18 box H/ACA RNA 3'-end processing GO:0000495 9.78 PARN DKC1
19 pseudouridine synthesis GO:0001522 9.77 NOP10 DKC1
20 RNA modification GO:0009451 9.76 PARN DKC1
21 snRNA pseudouridine synthesis GO:0031120 9.63 NOP10 NHP2 DKC1
22 telomere maintenance via telomerase GO:0007004 9.47 WRAP53 TERT TERC NOP10 NHP2 DKC1
23 rRNA pseudouridine synthesis GO:0031118 9.43 NOP10 NHP2 DKC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 9.85 TERC RTEL1 ACD
2 telomeric DNA binding GO:0042162 9.76 ACD CTC1 TERT TINF2
3 telomerase activity GO:0003720 9.73 TERT TERC DKC1
4 RNA-directed DNA polymerase activity GO:0003964 9.71 TERT TERC
5 telomerase RNA reverse transcriptase activity GO:0003721 9.62 TERT TERC
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.43 RTEL1-TNFRSF6B RTEL1
7 box H/ACA snoRNA binding GO:0034513 9.43 NOP10 NHP2 DKC1
8 telomerase RNA binding GO:0070034 9.4 WRAP53 TERT PARN NOP10 NHP2 DKC1

Sources for Dyskeratosis Congenita

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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