DC
MCID: DYS007
MIFTS: 63

Dyskeratosis Congenita (DC) malady

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

Aliases & Classifications for Dyskeratosis Congenita

Aliases & Descriptions for Dyskeratosis Congenita:

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

Characteristics:

Orphanet epidemiological data:

56
dyskeratosis congenita
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult;
hoyeraal-hreidarsson syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

GeneReviews:

23
Penetrance The penetrance of dc and dc-associated medical complications is not well understood. due to the variability between individuals (even within the same family) and the observation that medical complications may increase with age, penetrance may appear incomplete, but additional studies are needed...

Classifications:



External Ids:

Disease Ontology 12 DOID:2729
MeSH 42 D019871
NCIt 47 C111802
SNOMED-CT 64 74911008
UMLS via Orphanet 70 C0265965 C1846142
MESH via Orphanet 43 D019871 C536068
ICD10 via Orphanet 34 Q82.8 D61.0
UMLS 69 C0265965

Summaries for Dyskeratosis Congenita

NIH Rare Diseases : 50 dyskeratosis congenita is a disorder that may affect many parts of the body. three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; 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 bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. the severity of dyskeratosis congenita varies widely among affected individuals. in about half of people, this condition is caused by mutations the dkc1, terc, tert, and tinf2 genes. dyskeratosis congenita can have different inheritance patterns. last updated: 1/20/2012

MalaCards based summary : Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to dyskeratosis congenita, autosomal dominant 2 and dyskeratosis congenita, autosomal recessive 5, and has symptoms including ataxia, diabetes mellitus and hyperhidrosis. An important gene associated with Dyskeratosis Congenita is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. The drugs alemtuzumab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

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.

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).

Wikipedia : 71 Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital... more...

GeneReviews: NBK22301

Related Diseases for Dyskeratosis Congenita

Diseases in the Dyskeratosis Congenita family:

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

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

(show top 50) (show all 118)
id Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 2 12.4
2 dyskeratosis congenita, autosomal recessive 5 12.4
3 dyskeratosis congenita, x-linked 12.4
4 dyskeratosis congenita, autosomal dominant 6 12.3
5 dyskeratosis congenita, autosomal dominant 3 12.3
6 dyskeratosis congenita, autosomal recessive 1 12.3
7 dyskeratosis congenita, autosomal recessive 3 12.3
8 dyskeratosis congenita, autosomal recessive 2 12.3
9 dyskeratosis congenita, autosomal recessive 6 12.3
10 dyskeratosis congenita, autosomal dominant 1 12.2
11 dyskeratosis congenita autosomal dominant 12.0
12 rtel1-related dyskeratosis congenita 12.0
13 acd-related dyskeratosis congenita 12.0
14 dyskeratosis congenita autosomal recessive 12.0
15 parn-related dyskeratosis congenita 11.9
16 dkc1-related dyskeratosis congenita 11.9
17 nhp2-related dyskeratosis congenita 11.9
18 nop10-related dyskeratosis congenita 11.9
19 terc-related dyskeratosis congenita 11.9
20 tert-related dyskeratosis congenita 11.9
21 tinf2-related dyskeratosis congenita 11.9
22 wrap53-related dyskeratosis congenita 11.9
23 revesz syndrome 11.7
24 cerebroretinal microangiopathy with calcifications and cysts 11.0
25 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.0
26 congenital muscular dystrophy type 1a 10.4 DKC1 TERC
27 transitional cell cancer of the renal pelvis and ureter 10.4 DKC1 TERC
28 tooth agenesis, selective, 3 10.3 DKC1 TINF2
29 hypocalciuric hypercalcemia, type i 10.3 TERC TERT TINF2
30 mosaic variegated aneuploidy syndrome 1 10.3 NHP2 NOP10 TERT
31 hematopoietic stem cell transplantation 10.3
32 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.3 TERC TERT
33 hemophilia a 10.3 CTC1 DKC1 PARN
34 aplastic anemia 10.3
35 scn9a-related inherited erythromelalgia 10.3 TERC TERT
36 renal tubular acidosis 10.3 PARN RTEL1 TERC TERT
37 hiv-1 10.3
38 aortic aneurysm, familial thoracic 6 10.2 PARN RTEL1 TERC TERT
39 pancytopenia 10.2
40 early-onset anterior polar cataract 10.2 ACD DKC1 RTEL1 TERC TERT TINF2
41 retinitis 10.2
42 early-onset generalized dystonia 10.2 ACD NHP2 NOP10 PARN RTEL1 TERT
43 eosinophilic cystitis 10.1 CSF2 CSF3
44 blood coagulation disease 10.1 CSF2 CSF3 DKC1 TERT
45 pulmonary fibrosis 10.1
46 leukoplakia 10.1
47 mental retardation, autosomal dominant 37 10.1 CSF2 CSF3
48 neutropenia 10.1
49 pneumonia 10.1
50 squamous cell carcinoma 10.1

Graphical network of the top 20 diseases related to Dyskeratosis Congenita:



Diseases related to Dyskeratosis Congenita

Symptoms & Phenotypes for Dyskeratosis Congenita

Human phenotypes related to Dyskeratosis Congenita:

56 32 (show top 50) (show all 79)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
3 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
6 cerebral calcification 56 32 Occasional (29-5%),Occasional (29-5%) HP:0002514
7 scoliosis 56 32 Occasional (29-5%) HP:0002650
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 cataract 56 32 Occasional (29-5%) HP:0000518
10 global developmental delay 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001263
11 splenomegaly 56 32 Occasional (29-5%) HP:0001744
12 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
13 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
14 aseptic necrosis 56 32 Occasional (29-5%) HP:0010885
15 carious teeth 56 32 Frequent (79-30%) HP:0000670
16 malabsorption 56 32 Frequent (79-30%) HP:0002024
17 microcephaly 56 32 Very frequent (99-80%) HP:0000252
18 short stature 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0004322
19 hypertonia 56 32 Frequent (79-30%) HP:0001276
20 osteoporosis 56 32 Occasional (29-5%) HP:0000939
21 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
22 anemia 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0001903
23 bone marrow hypocellularity 56 32 Frequent (79-30%),Occasional (29-5%) HP:0005528
24 palmoplantar keratoderma 56 32 Occasional (29-5%) HP:0000982
25 neoplasm 56 32 Frequent (79-30%),Occasional (29-5%) HP:0002664
26 nail dystrophy 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0008404
27 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
28 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
29 cirrhosis 56 32 Occasional (29-5%) HP:0001394
30 thrombocytopenia 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0001873
31 skin ulcer 56 32 Frequent (79-30%) HP:0200042
32 hypopigmented skin patches 56 32 Frequent (79-30%) HP:0001053
33 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
34 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
35 abnormality of the eyelashes 56 32 Occasional (29-5%) HP:0000499
36 abnormality of the eyebrow 56 32 Occasional (29-5%) HP:0000534
37 premature graying of hair 56 32 Occasional (29-5%),Frequent (79-30%) HP:0002216
38 cerebellar hypoplasia 56 32 Very frequent (99-80%) HP:0001321
39 blepharitis 56 32 Occasional (29-5%) HP:0000498
40 intrauterine growth retardation 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001511
41 hypoplasia of the maxilla 56 32 Occasional (29-5%) HP:0000327
42 abnormality of the testis 56 32 Occasional (29-5%) HP:0000035
43 cellular immunodeficiency 56 32 Frequent (79-30%) HP:0005374
44 aplasia/hypoplasia of the skin 56 32 Frequent (79-30%) HP:0008065
45 abnormality of the pharynx 56 32 Frequent (79-30%) HP:0000600
46 anorectal anomaly 56 32 Frequent (79-30%) HP:0012732
47 taurodontia 56 32 Frequent (79-30%) HP:0000679
48 periodontitis 56 32 Frequent (79-30%) HP:0000704
49 sparse scalp hair 56 32 Frequent (79-30%) HP:0002209
50 recurrent fractures 56 32 Frequent (79-30%) HP:0002757

UMLS symptoms related to Dyskeratosis Congenita:


onychomadesis

Drugs & Therapeutics for Dyskeratosis Congenita

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

(show top 50) (show all 77)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Early Phase 1 50-18-0, 6055-19-2 2907
3
Fludarabine Approved Phase 2, Phase 3, Early Phase 1 21679-14-1, 75607-67-9 30751
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Vidarabine Approved Phase 2, Phase 3,Early Phase 1 24356-66-9 32326 21704
7 Alkylating Agents Phase 2, Phase 3,Early Phase 1
8 Antiemetics Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3,Early Phase 1
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Antilymphocyte Serum Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3,Early Phase 1
13 Antimetabolites, Antineoplastic Phase 2, Phase 3,Early Phase 1
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Early Phase 1
15 Antineoplastic Agents, Hormonal Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Early Phase 1
17 Antiviral Agents Phase 2, Phase 3,Early Phase 1
18 Autonomic Agents Phase 2, Phase 3
19 Gastrointestinal Agents Phase 2, Phase 3
20 glucocorticoids Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3,Phase 1
22 Hormones Phase 2, Phase 3,Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Neuroprotective Agents Phase 2, Phase 3
28 Peripheral Nervous System Agents Phase 2, Phase 3
29 Prednisolone acetate Phase 2, Phase 3
30 Prednisolone hemisuccinate Phase 2, Phase 3
31 Prednisolone phosphate Phase 2, Phase 3
32 Protective Agents Phase 2, Phase 3
33
Lenograstim Approved Phase 2 135968-09-1
34
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
35
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
36
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
37
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
38
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
39
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
40
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
41
Acetaminophen Approved Phase 2 103-90-2 1983
42
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
43
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
44
Hydroxyurea Approved Phase 2 127-07-1 3657
45
Melphalan Approved Phase 2 148-82-3 4053 460612
46
Promethazine Approved Phase 2 60-87-7 4927
47
Thiotepa Approved Phase 2 52-24-4 5453
48
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3
2 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
3 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2
4 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
5 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
6 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
7 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
8 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
9 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
10 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420
11 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
12 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
15 Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders Active, not recruiting NCT00856388
16 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Dyskeratosis Congenita

Cochrane evidence based reviews: dyskeratosis congenita

Genetic Tests for Dyskeratosis Congenita

Genetic tests related to Dyskeratosis Congenita:

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

Anatomical Context for Dyskeratosis Congenita

MalaCards organs/tissues related to Dyskeratosis Congenita:

39
Skin, Bone, Bone Marrow, Lung, Neutrophil, Pancreas, Testis

Publications for Dyskeratosis Congenita

Articles related to Dyskeratosis Congenita:

(show top 50) (show all 449)
id Title Authors Year
1
Dyskeratosis Congenita. ( 28402761 )
2017
2
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
3
Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: analysis of oxidative stress in lung fibroblasts. ( 28092351 )
2017
4
Dyskeratosis congenita presenting with dysphagia. ( 27559501 )
2016
5
Clonal Hematopoiesis in Patients with Dyskeratosis Congenita. ( 27622320 )
2016
6
A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation. ( 26845033 )
2016
7
A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism. ( 27376432 )
2016
8
Dyskeratosis congenita associated with leukoplakia of the tongue. ( 26778687 )
2016
9
Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita. ( 27545506 )
2016
10
Avascular Necrosis of Head of Femur in Dyskeratosis Congenita - A Rare Presentation. ( 27408398 )
2016
11
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. ( 27065378 )
2016
12
Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita. ( 27904106 )
2016
13
Reduced intensity conditioning regimen with fludarabine, cyclophosphamide, low dose TBI and alemtuzumab leading to successful unrelated umbilical cord stem cell engraftment and survival in two children with dyskeratosis congenita. ( 26808569 )
2016
14
Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease. ( 27904002 )
2016
15
Survival after Hematopoietic Stem Cell Transplant in PatientsA with Dyskeratosis Congenita: Systematic Review ofA the Literature. ( 26968789 )
2016
16
Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report. ( 27015183 )
2016
17
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. ( 27824607 )
2016
18
Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita. ( 27607446 )
2016
19
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita. ( 27468421 )
2016
20
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. ( 27612988 )
2016
21
DNA methylation in PRDM8 is indicative for dyskeratosis congenita. ( 26909595 )
2016
22
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. ( 26859482 )
2016
23
A case of dyskeratosis congenita with dermoscopic and reflectance confocal microscopic features. ( 26089061 )
2015
24
Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype. ( 26446280 )
2015
25
DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS. ( 27182588 )
2015
26
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition. ( 26546739 )
2015
27
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. ( 26351433 )
2015
28
Hepatic Angiosarcoma with Dyskeratosis Congenita. ( 26568000 )
2015
29
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. ( 25499762 )
2015
30
Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol. ( 26083318 )
2015
31
Long tails, short telomeres: Dyskeratosis congenita. ( 26116823 )
2015
32
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients. ( 25992652 )
2015
33
Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First. ( 26900277 )
2015
34
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. ( 25893599 )
2015
35
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita. ( 25854548 )
2015
36
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases. ( 25455995 )
2015
37
Dyskeratosis Congenita with Acute Pre B Cell Lymphoblastic Leukemia in a 10-year-old Girl. ( 25772941 )
2015
38
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. ( 26535771 )
2015
39
Dyskeratosis Congenita Without Oral Involvement: A Rare Hereditary Disease. ( 26171129 )
2015
40
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. ( 26329388 )
2015
41
Anesthesia in a patient with dyskeratosis congenita presenting for urgent subtotal gastrectomy. ( 26260648 )
2015
42
A case report on a rare disease: dyskeratosis congenita. ( 25780486 )
2015
43
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. ( 26019357 )
2015
44
Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. ( 25499969 )
2015
45
X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora. ( 24635067 )
2014
46
Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy. ( 25067791 )
2014
47
Diffuse Hemorrhagic Colitis in a Patient With Dyskeratosis Congenita After Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation. ( 25000468 )
2014
48
Successful treatment with rituximab and mycophenolate mofetil of refractory autoimmune hemolytic anemia post-hematopoietic stem cell transplant for dyskeratosis congenita due to TINF2 mutation. ( 24168326 )
2014
49
The diagnosis and treatment of dyskeratosis congenita: a review. ( 25170286 )
2014
50
Oral and dental findings of dyskeratosis congenita. ( 25610666 )
2014

Variations for Dyskeratosis Congenita

ClinVar genetic disease variations for Dyskeratosis Congenita:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
2 DKC1 NM_001363.4(DKC1): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh37 Chromosome X, 153993780: 153993780
3 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
4 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
5 CTC1 NM_025099.5(CTC1): c.724_727delAAAG (p.Lys242Leufs) deletion Pathogenic rs199473674 GRCh37 Chromosome 17, 8140758: 8140761
6 CTC1 NM_025099.5(CTC1): c.2831delC (p.Pro944Leufs) deletion Pathogenic rs199473677 GRCh37 Chromosome 17, 8133714: 8133714
7 CTC1 NM_025099.5(CTC1): c.2954_2956delGTT (p.Cys985del) deletion Pathogenic rs199473679 GRCh37 Chromosome 17, 8133264: 8133266
8 PARN NM_002582.3(PARN): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic rs786200999 GRCh38 Chromosome 16, 14582225: 14582225
9 PARN NM_002582.3(PARN): c.918+1G> T single nucleotide variant Pathogenic rs756132866 GRCh37 Chromosome 16, 14687157: 14687157
10 PARN NM_002582.3(PARN): c.863dupA (p.Asn288Lysfs) duplication Pathogenic rs786201001 GRCh37 Chromosome 16, 14687213: 14687213
11 PARN NM_002582.3(PARN): c.659+4_659+7delAGTA deletion Pathogenic rs759131762 GRCh38 Chromosome 16, 14608274: 14608277

Copy number variations for Dyskeratosis Congenita from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 260197 X 146900000 154913754 Copy number DCK1 Hoyeraal-Hreidarsson syndrome

Expression for Dyskeratosis Congenita

Search GEO for disease gene expression data for Dyskeratosis Congenita.

Pathways for Dyskeratosis Congenita

Pathways related to Dyskeratosis Congenita according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 ACD DKC1 NHP2 POT1 TERT TINF2
2
Show member pathways
12.23 ACD DKC1 NHP2 POT1 TERT TINF2
3 11.58 DKC1 GAR1 NHP2 NOP10
4 11.17 ACD DKC1 POT1 TERT TINF2
5
Show member pathways
10.82 POT1 TERT TINF2
6 10.82 CSF2 CSF3 PARN RTEL1 TERT

GO Terms for Dyskeratosis Congenita

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.91 ACD CTC1 GAR1 NHP2 POT1 TERT
2 chromosome GO:0005694 9.89 ACD CTC1 POT1 TERT TINF2
3 intracellular ribonucleoprotein complex GO:0030529 9.88 DKC1 GAR1 NHP2 NOP10 TERT
4 nuclear body GO:0016604 9.85 ACD NOP10 TINF2 WRAP53
5 Cajal body GO:0015030 9.83 DKC1 GAR1 NHP2 NOP10 WRAP53
6 chromosome, telomeric region GO:0000781 9.73 ACD CTC1 POT1 RTEL1 TERT TINF2
7 nuclear telomere cap complex GO:0000783 9.71 ACD POT1 TERT TINF2
8 telosome GO:0070187 9.63 ACD POT1 TINF2
9 box H/ACA snoRNP complex GO:0031429 9.62 DKC1 GAR1 NHP2 NOP10
10 small nucleolar ribonucleoprotein complex GO:0005732 9.51 NHP2 NOP10
11 box H/ACA scaRNP complex GO:0072589 9.46 DKC1 GAR1 NHP2 NOP10
12 box H/ACA telomerase RNP complex GO:0090661 9.26 DKC1 GAR1 NHP2 NOP10
13 telomerase holoenzyme complex GO:0005697 9.1 DKC1 GAR1 NHP2 NOP10 TERT WRAP53
14 nucleoplasm GO:0005654 10.24 ACD DKC1 GAR1 NHP2 NOP10 POT1
15 nucleolus GO:0005730 10 DKC1 GAR1 NHP2 NOP10 PARN TERT

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.92 DKC1 GAR1 NHP2 NOP10
2 ribosome biogenesis GO:0042254 9.85 DKC1 GAR1 NHP2 NOP10
3 RNA processing GO:0006396 9.81 DKC1 TRUB1 TRUB2
4 telomere maintenance GO:0000723 9.81 ACD CTC1 RTEL1 TERT
5 telomere capping GO:0016233 9.8 ACD CTC1 POT1 TINF2
6 negative regulation of telomere maintenance via telomerase GO:0032211 9.76 ACD CTC1 POT1 TINF2
7 positive regulation of telomere maintenance via telomerase GO:0032212 9.72 ACD DKC1 PARN POT1 WRAP53
8 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.71 DKC1 NHP2 NOP10
9 RNA modification GO:0009451 9.71 DKC1 PARN TRUB1 TRUB2
10 negative regulation of telomerase activity GO:0051974 9.7 CTC1 POT1 TINF2
11 pseudouridine synthesis GO:0001522 9.67 DKC1 GAR1 NOP10 TRUB2
12 snRNA pseudouridine synthesis GO:0031120 9.65 DKC1 NHP2 NOP10
13 positive regulation of telomerase activity GO:0051973 9.65 ACD DKC1 PARN POT1 WRAP53
14 replicative senescence GO:0090399 9.63 CTC1 TERT
15 positive regulation of telomere maintenance GO:0032206 9.62 RTEL1 TINF2
16 protein localization to chromosome, telomeric region GO:0070198 9.61 ACD TINF2
17 telomere maintenance via telomere lengthening GO:0010833 9.61 CTC1 TINF2
18 telomere assembly GO:0032202 9.61 ACD POT1 TINF2
19 positive regulation of establishment of protein localization to telomere GO:1904851 9.6 DKC1 WRAP53
20 regulation of telomerase RNA localization to Cajal body GO:1904872 9.59 DKC1 PARN
21 telomerase RNA stabilization GO:0090669 9.58 DKC1 PARN
22 mRNA pseudouridine synthesis GO:1990481 9.58 DKC1 TRUB1
23 regulation of telomere maintenance via telomere lengthening GO:1904356 9.57 CTC1 TINF2
24 snoRNA guided rRNA pseudouridine synthesis GO:0000454 9.56 GAR1 NOP10
25 establishment of protein localization to telomere GO:0070200 9.46 ACD POT1 TERT WRAP53
26 rRNA pseudouridine synthesis GO:0031118 9.26 DKC1 GAR1 NHP2 NOP10
27 telomere maintenance via telomerase GO:0007004 9.23 ACD DKC1 GAR1 NHP2 NOP10 POT1

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

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.97 DKC1 GAR1 NHP2 PARN TERT TRUB1
2 isomerase activity GO:0016853 9.65 DKC1 TRUB1 TRUB2
3 telomeric DNA binding GO:0042162 9.55 ACD CTC1 POT1 TERT TINF2
4 pseudouridine synthase activity GO:0009982 9.5 DKC1 TRUB1 TRUB2
5 snoRNA binding GO:0030515 9.46 NHP2 NOP10
6 G-rich strand telomeric DNA binding GO:0098505 9.43 CTC1 POT1
7 telomerase inhibitor activity GO:0010521 9.43 CTC1 POT1 TINF2
8 telomerase activity GO:0003720 9.4 DKC1 TERT
9 box H/ACA snoRNA binding GO:0034513 9.26 DKC1 GAR1 NHP2 NOP10
10 telomerase RNA binding GO:0070034 9.17 DKC1 GAR1 NHP2 NOP10 PARN TERT

Sources for Dyskeratosis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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