DKCX
MCID: DYS164
MIFTS: 56

Dyskeratosis Congenita, X-Linked (DKCX)

Categories: Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dyskeratosis Congenita, X-Linked

MalaCards integrated aliases for Dyskeratosis Congenita, X-Linked:

Name: Dyskeratosis Congenita, X-Linked 56 73 13 39
X-Linked Dyskeratosis Congenita 12 52 15 71
Hoyeraal-Hreidarsson Syndrome 73 36 54 71
Dkcx 56 12 52 73
Dyskeratosis Congenita X-Linked 52 29 6
Zinsser-Cole-Engman Syndrome 56 12 73
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 73
Cerebellar Hypoplasia with Pancytopenia 73
Dyskeratosis Congenita 71
Hhs 73

Characteristics:

OMIM:

56
Miscellaneous:
classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia
median age of diagnosis - 15 years
median age of onset of pigmentation - 8 years (range 1-15 years)
median age of onset of nail dystrophy - 7 years (range 1-6 years)
median age of onset of leukoplakia - 7 years (range 1-26 years)
median age of onset of pancytopenia - 10 years (range 1-32 years)
hhs is a more severe variant, often resulting in death in childhood

Inheritance:
x-linked recessive


HPO:

31
dyskeratosis congenita, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Dyskeratosis Congenita, X-Linked

OMIM : 56 Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550). (305000)

MalaCards based summary : Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to congenital intrauterine infection-like syndrome and revesz syndrome, and has symptoms including onychomadesis An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and rRNA processing in the nucleus and cytosol. 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 intellectual disability and failure to thrive

Disease Ontology : 12 A dyskeratosis congenita that has material basis in an X-linked recessive mutation of DKC1 on chromosome Xq28.

KEGG : 36 Hoyeraal-Hreidarsson syndrome is a severe variant of the X-linked recessive dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.

UniProtKB/Swiss-Prot : 73 Dyskeratosis congenita, X-linked: A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Hoyeraal-Hreidarsson syndrome: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.

Related Diseases for Dyskeratosis Congenita, X-Linked

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

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 congenital intrauterine infection-like syndrome 33.4 TERC DKC1
2 revesz syndrome 32.0 TINF2 TERT TERC NOP10 NHP2 DKC1
3 hoyeraal hreidarsson syndrome 31.4 TINF2 TERT TERC DKC1
4 dyskeratosis congenita, autosomal dominant 1 31.4 TINF2 TERT TERC DKC1
5 inherited bone marrow failure syndromes 30.8 TERT TERC
6 dyskeratosis congenita autosomal recessive 30.6 TERT NOP10 NHP2
7 pulmonary fibrosis 30.5 TINF2 TERT TERC
8 pulmonary fibrosis, idiopathic 29.4 TINF2 TERT TERC NOP10 NHP2 DKC1
9 aplastic anemia 29.0 TINF2 TERT TERC RPS19 NOP10 NHP2
10 dyskeratosis congenita 26.6 TRUB2 TRUB1 TINF2 TERT TERC SHQ1
11 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
12 hypotrichosis 1 12.0
13 hemochromatosis, type 1 11.8
14 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
15 heart-hand syndrome, slovenian type 11.7
16 hypogonadotropic hypogonadism 11.7
17 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
18 hypothalamic hamartomas 11.3
19 charge syndrome 11.3
20 hypogonadotropic hypogonadism 2 with or without anosmia 11.2
21 dyskeratosis congenita, autosomal recessive 5 11.2
22 kallmann syndrome 11.2
23 hyperinsulinemic hypoglycemia, familial, 6 11.2
24 hypotrichosis simplex 11.2
25 hypogonadotropic hypogonadism 3 with or without anosmia 11.0
26 hypogonadotropic hypogonadism 4 with or without anosmia 11.0
27 hypogonadotropic hypogonadism 5 with or without anosmia 11.0
28 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
29 hypogonadotropic hypogonadism 8 with or without anosmia 11.0
30 hypogonadotropic hypogonadism 9 with or without anosmia 11.0
31 hypogonadotropic hypogonadism 10 with or without anosmia 11.0
32 hypogonadotropic hypogonadism 11 with or without anosmia 11.0
33 hypogonadotropic hypogonadism 12 with or without anosmia 11.0
34 hypogonadotropic hypogonadism 13 with or without anosmia 11.0
35 hypogonadotropic hypogonadism 14 with or without anosmia 11.0
36 hypogonadotropic hypogonadism 16 with or without anosmia 11.0
37 hypogonadotropic hypogonadism 17 with or without anosmia 11.0
38 hypogonadotropic hypogonadism 18 with or without anosmia 11.0
39 hypogonadotropic hypogonadism 19 with or without anosmia 11.0
40 hypogonadotropic hypogonadism 20 with or without anosmia 11.0
41 hypogonadotropic hypogonadism 21 with or without anosmia 11.0
42 hypogonadotropic hypogonadism 22 with or without anosmia 11.0
43 bombay phenotype 11.0
44 tumoral calcinosis, hyperphosphatemic, familial, 2 11.0
45 tumoral calcinosis, hyperphosphatemic, familial, 3 11.0
46 leukoplakia 10.8
47 oral leukoplakia 10.6
48 dowling-degos disease 1 10.6
49 gastrointestinal carcinoma 10.6
50 portal hypertension 10.6

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, X-Linked:



Diseases related to Dyskeratosis Congenita, X-Linked

Symptoms & Phenotypes for Dyskeratosis Congenita, X-Linked

Human phenotypes related to Dyskeratosis Congenita, X-Linked:

31 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 failure to thrive 31 hallmark (90%) HP:0001508
3 global developmental delay 31 very rare (1%) HP:0001263
4 short stature 31 hallmark (90%) HP:0004322
5 intrauterine growth retardation 31 hallmark (90%) HP:0001511
6 microcephaly 31 hallmark (90%) HP:0000252
7 immunodeficiency 31 hallmark (90%) HP:0002721
8 thrombocytopenia 31 hallmark (90%) HP:0001873
9 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
10 dermal atrophy 31 hallmark (90%) HP:0004334
11 cerebral cortical atrophy 31 frequent (33%) HP:0002120
12 hypertonia 31 frequent (33%) HP:0001276
13 anemia 31 frequent (33%) HP:0001903
14 nail dystrophy 31 frequent (33%) HP:0008404
15 ventriculomegaly 31 frequent (33%) HP:0002119
16 premature graying of hair 31 frequent (33%) HP:0002216
17 sparse scalp hair 31 frequent (33%) HP:0002209
18 generalized hyperpigmentation 31 frequent (33%) HP:0007440
19 abnormality of coagulation 31 frequent (33%) HP:0001928
20 generalized hypopigmentation of hair 31 frequent (33%) HP:0011358
21 oral leukoplakia 31 frequent (33%) HP:0002745
22 excessive wrinkled skin 31 frequent (33%) HP:0007392
23 ataxia 31 occasional (7.5%) HP:0001251
24 cerebral calcification 31 occasional (7.5%) HP:0002514
25 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
26 neoplasm 31 occasional (7.5%) HP:0002664
27 hyporeflexia 31 occasional (7.5%) HP:0001265
28 abnormal leukocyte morphology 31 occasional (7.5%) HP:0001881
29 hyperhidrosis 31 HP:0000975
30 cataract 31 HP:0000518
31 carious teeth 31 HP:0000670
32 cryptorchidism 31 HP:0000028
33 horseshoe kidney 31 HP:0000085
34 alopecia 31 HP:0001596
35 optic atrophy 31 HP:0000648
36 osteoporosis 31 HP:0000939
37 pulmonary fibrosis 31 HP:0002206
38 pancytopenia 31 HP:0001876
39 myelodysplasia 31 HP:0002863
40 acute myeloid leukemia 31 HP:0004808
41 strabismus 31 HP:0000486
42 cirrhosis 31 HP:0001394
43 restrictive ventilatory defect 31 HP:0002091
44 blepharitis 31 HP:0000498
45 hypospadias 31 HP:0000047
46 decreased testicular size 31 HP:0008734
47 conjunctivitis 31 HP:0000509
48 urethral stenosis 31 HP:0008661
49 pterygium 31 HP:0001059
50 ridged nail 31 HP:0001807

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
hyperhidrosis
skin atrophy
reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients)

Growth Height:
short stature

Genitourinary Kidneys:
horseshoe kidney

Respiratory Lung:
pulmonary fibrosis
restrictive lung disease
reduced diffusion capacity

Hematology:
anemia
pancytopenia
myelodysplasia
thrombocytopenia
leukopenia
more
Abdomen Liver:
cirrhosis

Genitourinary Bladder:
urethral stenosis

Skin Nails Hair Hair:
sparse eyelashes
hair loss
premature greying

Head And Neck Teeth:
early tooth loss
dental caries

Growth Other:
intrauterine growth retardation (seen in hoyeraal-hreidarsson syndrome variant, hhs)

Head And Neck Mouth:
leukoplakia (71% male patients)

Head And Neck Eyes:
cataract
optic atrophy
strabismus
blepharitis
conjunctivitis
more
Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

Skeletal:
osteoporosis

Immunology:
immunodeficiency
opportunistic infections (cmv, pneumocystis, candida)

Neoplasia:
acute myeloid leukemia
hodgkin disease
squamous cell carcinoma (skin or mucosa)
pancreatic carcinoma

Genitourinary External Genitalia Male:
hypospadias
phimosis

Abdomen Gastrointestinal:
anal mucosal leukoplakia
esophageal stricture

Skin Nails Hair Nails:
longitudinal ridging
pterygium formation
longitudinal splitting
nail dystrophy (92% male patients)
complete nail loss

Neurologic Central Nervous System:
learning difficulties
delayed development (about 25%)
mental retardation (seen in hhs variant)
cerebellar ataxia (seen in hhs variant)
cerebellar hypoplasia (seen in hhs variant)

Head And Neck Head:
microcephaly (seen in hhs variant)

Laboratory Abnormalities:
increased chromosomal rearrangements (bone marrow and fibroblast culture)

Clinical features from OMIM:

305000

UMLS symptoms related to Dyskeratosis Congenita, X-Linked:


onychomadesis

Drugs & Therapeutics for Dyskeratosis Congenita, X-Linked

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

(show top 50) (show all 75)
# 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 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Antiemetics Phase 2, Phase 3
9 Methylprednisolone Acetate Phase 2, Phase 3
10 Gastrointestinal Agents Phase 2, Phase 3
11 Neuroprotective Agents Phase 2, Phase 3
12 Autonomic Agents Phase 2, Phase 3
13 Protective Agents Phase 2, Phase 3
14 glucocorticoids Phase 2, Phase 3
15 Anti-Inflammatory Agents Phase 2, Phase 3
16
Nandrolone decanoate Approved, Illicit Phase 1, Phase 2 360-70-3 9677
17
Nandrolone phenpropionate Approved, Illicit, Investigational Phase 1, Phase 2 62-90-8 229455
18
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
19
Lenograstim Approved, Investigational Phase 2 135968-09-1
20
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
23
alemtuzumab Approved, Investigational Phase 2 216503-57-0
24
Mycophenolic acid Approved Phase 2 24280-93-1 446541
25
Melphalan Approved Phase 2 148-82-3 4053 460612
26
Hydroxyurea Approved Phase 2 127-07-1 3657
27
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
28
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
29
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
30
leucovorin Approved Phase 2 58-05-9 6006 143
31
Busulfan Approved, Investigational Phase 2 55-98-1 2478
32
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
34
Nandrolone Experimental, Investigational Phase 1, Phase 2 434-22-0 9904
35
Treosulfan Investigational Phase 2 299-75-2 9296
36 Anabolic Agents Phase 1, Phase 2
37 Androgens Phase 1, Phase 2
38 Adjuvants, Immunologic Phase 2
39 Immunologic Factors Phase 2
40 Antitubercular Agents Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Antineoplastic Agents, Immunological Phase 2
43 Anti-Infective Agents Phase 2
44 Anti-Bacterial Agents Phase 2
45 Dermatologic Agents Phase 2
46 Antiviral Agents Phase 2
47 Cyclosporins Phase 2
48 Antifungal Agents Phase 2
49 Antirheumatic Agents Phase 2
50 Immunosuppressive 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 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 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
6 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
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 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
9 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
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, X-Linked

Genetic Tests for Dyskeratosis Congenita, X-Linked

Genetic tests related to Dyskeratosis Congenita, X-Linked:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita X-Linked 29 DKC1

Anatomical Context for Dyskeratosis Congenita, X-Linked

MalaCards organs/tissues related to Dyskeratosis Congenita, X-Linked:

40
Bone, Bone Marrow, Skin, Liver, Myeloid, T Cells, Heart

Publications for Dyskeratosis Congenita, X-Linked

Articles related to Dyskeratosis Congenita, X-Linked:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 54 56 6
10583221 1999
2
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome. 56 6
18627054 2008
3
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. 56 6
10700698 2000
4
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 56 6
9590285 1998
5
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. 56 6
9042917 1997
6
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. 56 6
7607282 1995
7
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. 56 6
1361371 1992
8
Assignment of the gene for dyskeratosis congenita to Xq28. 56 6
3009302 1986
9
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). 54 6
11491307 2001
10
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 6
24914498 2014
11
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. 56
23946118 2013
12
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 56
23453664 2013
13
Clinical utility gene card for: dyskeratosis congenita. 6
21610750 2011
14
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 56
21602826 2011
15
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. 56
21415081 2011
16
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 6
19734544 2009
17
Dyskeratosis Congenita 6
20301779 2009
18
Dyskeratosis congenita: a genetic disorder of many faces. 56
18005359 2008
19
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. 56
17015423 2006
20
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. 56
16690864 2006
21
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. 6
15842668 2005
22
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. 6
12437656 2002
23
Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. 56
12406104 2002
24
Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. 6
12137939 2002
25
Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. 56
11851894 2002
26
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. 6
11379875 2001
27
A telomerase component is defective in the human disease dyskeratosis congenita. 56
10591218 1999
28
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. 6
10438713 1999
29
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 6
10364516 1999
30
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. 56
10029349 1998
31
Dyskeratosis Congenita (DC) Registry: identification of new features of DC. 56
9886310 1998
32
Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis. Two rare genodermatoses. 56
9663235 1998
33
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. 56
9310472 1997
34
Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. 56
9311754 1997
35
What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? 56
9007502 1997
36
Fine mapping of the dyskeratosis congenita locus in Xq28. 56
9004129 1996
37
Dyskeratosis congenita: an inherited bone marrow failure syndrome. 56
8616066 1996
38
The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. 56
8801113 1995
39
Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. 56
8533857 1995
40
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. 56
7977464 1994
41
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. 56
8033921 1994
42
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. 56
8105085 1993
43
Dyskeratosis congenita: unusual presenting features within a kindred. 56
8318369 1993
44
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. 56
1281384 1992
45
Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. 56
1390173 1992
46
"Stem cell" origin of the hematopoietic defect in dyskeratosis congenita. 56
1596563 1992
47
Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus. 56
1376473 1992
48
Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. 56
1375530 1992
49
Late vascular complications after bone marrow transplantation for dyskeratosis congenita. 56
1958493 1991
50
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. 56
2301400 1990

Variations for Dyskeratosis Congenita, X-Linked

ClinVar genetic disease variations for Dyskeratosis Congenita, X-Linked:

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DKC1 NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)SNV Pathogenic 11593 rs28936072 X:153993747-153993747 X:154765472-154765472
2 DKC1 NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)SNV Pathogenic 11594 rs137854491 X:153993725-153993725 X:154765450-154765450
3 DKC1 NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala)SNV Pathogenic 11595 rs137854492 X:154001438-154001438 X:154773163-154773163
4 DKC1 NM_001363.5(DKC1):c.949C>G (p.Leu317Val)SNV Pathogenic 38956 rs121912290 X:153999067-153999067 X:154770792-154770792
5 DKC1 NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)SNV Pathogenic 38934 rs199422250 X:154001519-154001519 X:154773244-154773244
6 DKC1 NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)SNV Pathogenic 38935 rs199422251 X:154001520-154001520 X:154773245-154773245
7 DKC1 NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)SNV Pathogenic 38936 rs199422252 X:154002877-154002877 X:154774602-154774602
8 DKC1 NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)SNV Pathogenic 38931 rs121912300 X:154001418-154001418 X:154773143-154773143
9 DKC1 NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)SNV Pathogenic 38932 rs121912298 X:154001419-154001419 X:154773144-154773144
10 DKC1 NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)SNV Pathogenic 38933 rs199422249 X:154001444-154001444 X:154773169-154773169
11 DKC1 NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)SNV Pathogenic 38937 rs121912296 X:153993749-153993749 X:154765474-154765474
12 DKC1 NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)SNV Pathogenic 38938 rs199422253 X:154002914-154002914 X:154774639-154774639
13 DKC1 NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)SNV Pathogenic 38939 rs121912299 X:154002925-154002925 X:154774650-154774650
14 DKC1 NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)SNV Pathogenic 38940 rs121912302 X:153993755-153993755 X:154765480-154765480
15 DKC1 NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)SNV Pathogenic 38941 rs199422254 X:154002944-154002944 X:154774669-154774669
16 DKC1 NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)SNV Pathogenic 38942 rs121912289 X:154002947-154002947 X:154774672-154774672
17 DKC1 NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)SNV Pathogenic 38943 rs199422243 X:153993761-153993761 X:154765486-154765486
18 DKC1 NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)SNV Pathogenic 11584 rs121912292 X:153993753-153993753 X:154765478-154765478
19 DKC1 NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr)indel Pathogenic 11585 rs121912294 X:153994224-153994225 X:154765949-154765950
20 DKC1 NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)SNV Pathogenic 11586 rs121912295 X:154002926-154002926 X:154774651-154774651
21 DKC1 NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)SNV Pathogenic 11587 rs121912288 X:154001427-154001427 X:154773152-154773152
22 DKC1 NC_000023.11:g.(154776372_154776374)_(154778317_154778319)deldeletion Pathogenic 11588 X:154776372-154778319
23 DKC1 DKC1, -141C-G, PROMOTERSNV Pathogenic 11589
24 DKC1 NM_001363.5(DKC1):c.16+592C>GSNV Pathogenic 11590 X:153991848-153991848 X:154763573-154763573
25 DKC1 NM_001363.5(DKC1):c.146C>T (p.Thr49Met)SNV Pathogenic 11591 rs121912304 X:153993780-153993780 X:154765505-154765505
26 DKC1 NM_001363.5(DKC1):c.1259+1G>ASNV Pathogenic 11596 rs1569558616 X:154002981-154002981 X:154774706-154774706
27 DKC1 NM_001363.5(DKC1):c.106T>G (p.Phe36Val)SNV Pathogenic 11582 rs121912293 X:153993740-153993740 X:154765465-154765465
28 DKC1 NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)SNV Pathogenic 38945 rs121912301 X:153994204-153994204 X:154765929-154765929
29 DKC1 NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)SNV Pathogenic 38946 rs121912297 X:153994206-153994206 X:154765931-154765931
30 DKC1 NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)SNV Pathogenic 38947 rs199422244 X:153994210-153994210 X:154765935-154765935
31 DKC1 NM_001363.5(DKC1):c.204C>A (p.His68Gln)SNV Pathogenic 38948 rs199422245 X:153994214-153994214 X:154765939-154765939
32 DKC1 NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)SNV Pathogenic 38949 rs199422242 X:153993186-153993186 X:154764911-154764911
33 DKC1 NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)SNV Pathogenic 38953 rs199422247 X:153997581-153997581 X:154769306-154769306
34 DKC1 NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)SNV Pathogenic 38954 rs137854491 X:153993725-153993725 X:154765450-154765450
35 DKC1 NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)SNV Pathogenic 38955 rs199422248 X:153999059-153999059 X:154770784-154770784
36 DKC1 NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)SNV Pathogenic 38957 rs121912290 X:153999067-153999067 X:154770792-154770792
37 DKC1 NM_001363.5(DKC1):c.961C>G (p.Leu321Val)SNV Pathogenic 38958 rs2728726 X:153999079-153999079 X:154770804-154770804
38 DKC1 NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)SNV Pathogenic 38959 rs121912291 X:153999083-153999083 X:154770808-154770808
39 DKC1 NM_001363.5(DKC1):c.5C>T (p.Ala2Val)SNV Pathogenic 38951 rs121912303 X:153991245-153991245 X:154762970-154762970
40 DKC1 NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)SNV Pathogenic 379736 rs1057520719 X:154001502-154001502 X:154773227-154773227
41 DKC1 NM_001363.5(DKC1):c.203A>G (p.His68Arg)SNV Pathogenic 446380 rs1557264102 X:153994213-153994213 X:154765938-154765938
42 DKC1 NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)SNV Likely pathogenic 427887 rs1114167422 X:154001423-154001423 X:154773148-154773148
43 DKC1 NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)SNV Likely pathogenic 434943 rs1557265435 X:154002976-154002976 X:154774701-154774701
44 DKC1 NM_001363.5(DKC1):c.109_111del (p.Leu37del)deletion Likely pathogenic 11583 rs137854489 X:153993741-153993743 X:154765466-154765468
45 DKC1 NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)SNV Likely pathogenic 11592 rs121912305 X:153994588-153994588 X:154766313-154766313
46 DKC1 NM_001363.4(DKC1):c.-142C>GSNV Conflicting interpretations of pathogenicity 38944 rs199422241 X:153991099-153991099 X:154762824-154762824
47 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
48 DKC1 NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)SNV Uncertain significance 38950 rs199422246 X:153995295-153995295 X:154767020-154767020
49 DKC1 NM_001363.5(DKC1):c.369G>T (p.Thr123=)SNV Benign/Likely benign 166994 rs2728532 X:153994596-153994596 X:154766321-154766321
50 DKC1 NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup)short repeat Benign 210847 rs782576893 X:154005088-154005089 X:154776813-154776814

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, X-Linked:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 DKC1 p.Phe36Val VAR_006811 rs121912293
2 DKC1 p.Pro40Arg VAR_006813 rs121912292
3 DKC1 p.Leu72Tyr VAR_006814 rs121912294
4 DKC1 p.Gly402Glu VAR_006815 rs121912295
5 DKC1 p.Ala353Val VAR_009264 rs121912288
6 DKC1 p.Ala2Val VAR_010076 rs121912303
7 DKC1 p.Lys39Glu VAR_010077 rs121912296
8 DKC1 p.Glu41Lys VAR_010078 rs121912302
9 DKC1 p.Arg65Thr VAR_010079 rs121912301
10 DKC1 p.Thr66Ala VAR_010080 rs121912297
11 DKC1 p.Leu321Val VAR_010081 rs2728726
12 DKC1 p.Met350Ile VAR_010082 rs121912298
13 DKC1 p.Met350Thr VAR_010083 rs121912300
14 DKC1 p.Gly402Arg VAR_010084 rs121912299
15 DKC1 p.Ile38Thr VAR_015674 rs28936072
16 DKC1 p.Thr49Met VAR_015675 rs121912304
17 DKC1 p.Ser121Gly VAR_015676 rs121912305
18 DKC1 p.Leu56Ser VAR_063821 rs121912287
19 DKC1 p.Leu72Phe VAR_063822 rs121912306
20 DKC1 p.Leu317Phe VAR_063823 rs121912290
21 DKC1 p.Arg322Gln VAR_063824 rs121912291
22 DKC1 p.Pro409Leu VAR_063825 rs121912289
23 DKC1 p.Leu54Val VAR_080707

Copy number variations for Dyskeratosis Congenita, X-Linked from CNVD:

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

Expression for Dyskeratosis Congenita, X-Linked

Search GEO for disease gene expression data for Dyskeratosis Congenita, X-Linked.

Pathways for Dyskeratosis Congenita, X-Linked

Pathways related to Dyskeratosis Congenita, X-Linked according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

GO Terms for Dyskeratosis Congenita, X-Linked

Cellular components related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.95 TERT SHQ1 RPS19 NOP10 NHP2 DKC1
2 nuclear chromosome, telomeric region GO:0000784 9.67 TINF2 TERT NHP2
3 chromosome, telomeric region GO:0000781 9.58 TINF2 TERT TERC
4 box H/ACA snoRNP complex GO:0031429 9.5 NOP10 NHP2 DKC1
5 small nucleolar ribonucleoprotein complex GO:0005732 9.46 NOP10 NHP2
6 box H/ACA telomerase RNP complex GO:0090661 9.46 TERC NOP10 NHP2 DKC1
7 nuclear telomere cap complex GO:0000783 9.43 TINF2 TERT
8 box H/ACA scaRNP complex GO:0072589 9.43 NOP10 NHP2 DKC1
9 Cajal body GO:0015030 9.43 TERC SHQ1 SCARNA13 NOP10 NHP2 DKC1
10 telomerase catalytic core complex GO:0000333 9.37 TERT TERC
11 telomerase holoenzyme complex GO:0005697 9.02 TERT TERC NOP10 NHP2 DKC1

Biological processes related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.71 RPS19 NOP10 NHP2 DKC1
2 ribosome biogenesis GO:0042254 9.65 NOP10 NHP2 DKC1
3 RNA processing GO:0006396 9.63 TRUB2 TRUB1 DKC1
4 RNA modification GO:0009451 9.54 TRUB2 TRUB1 DKC1
5 pseudouridine synthesis GO:0001522 9.5 TRUB2 NOP10 DKC1
6 negative regulation of cellular senescence GO:2000773 9.49 TERT TERC
7 mRNA pseudouridine synthesis GO:1990481 9.43 TRUB1 DKC1
8 rRNA pseudouridine synthesis GO:0031118 9.43 NOP10 NHP2 DKC1
9 snRNA pseudouridine synthesis GO:0031120 9.33 NOP10 NHP2 DKC1
10 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.26 SHQ1 NOP10 NHP2 DKC1
11 telomere maintenance via telomerase GO:0007004 9.02 TERT TERC NOP10 NHP2 DKC1

Molecular functions related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.97 TRUB2 TRUB1 TERT RPS19 RPL38 NOP10
2 isomerase activity GO:0016853 9.61 TRUB2 TRUB1 DKC1
3 telomeric DNA binding GO:0042162 9.46 TINF2 TERT
4 pseudouridine synthase activity GO:0009982 9.43 TRUB2 TRUB1 DKC1
5 RNA-directed DNA polymerase activity GO:0003964 9.4 TERT TERC
6 telomerase activity GO:0003720 9.33 TERT TERC DKC1
7 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERT TERC
8 box H/ACA snoRNA binding GO:0034513 9.13 NOP10 NHP2 DKC1
9 telomerase RNA binding GO:0070034 8.92 TERT NOP10 NHP2 DKC1

Sources for Dyskeratosis Congenita, X-Linked

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
41 MedGen
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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