DKCX
MCID: DYS164
MIFTS: 56

Dyskeratosis Congenita, X-Linked (DKCX)

Categories: Genetic 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 57 72 29 13 6 39
X-Linked Dyskeratosis Congenita 12 20 15 70
Dkcx 57 12 20 72
Zinsser-Cole-Engman Syndrome 57 12 72
Hoyeraal-Hreidarsson Syndrome 72 70
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 72
Cerebellar Hypoplasia with Pancytopenia 72
Dyskeratosis Congenita X-Linked 20
Dyskeratosis Congenita 70
Hhs 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to congenital intrauterine infection-like syndrome and dyskeratosis congenita, autosomal dominant 1, 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 rRNA processing in the nucleus and cytosol and Chromosome Maintenance. The drugs Methylprednisolone and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are ataxia and cerebellar hypoplasia

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

UniProtKB/Swiss-Prot : 72 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 131)
# Related Disease Score Top Affiliating Genes
1 congenital intrauterine infection-like syndrome 32.3 TERC DKC1
2 dyskeratosis congenita, autosomal dominant 1 31.5 TINF2 TERT TERC
3 revesz syndrome 31.5 TINF2 TERT TERC NOP10 NHP2 DKC1
4 hoyeraal hreidarsson syndrome 31.4 TINF2 TERT TERC DKC1
5 inherited bone marrow failure syndromes 30.7 TERT TERC
6 pulmonary fibrosis 30.5 TINF2 TERT TERC
7 dyskeratosis congenita autosomal recessive 30.3 TERT NOP10 NHP2
8 pancytopenia 30.3 TINF2 TERT DKC1
9 pulmonary fibrosis, idiopathic 29.7 TINF2 TERT TERC NOP10 NHP2 DKC1
10 aplastic anemia 29.0 TINF2 TERT TERC RPS19 RPL5 NOP10
11 dyskeratosis congenita 25.5 TRUB1 TINF2 TERT TERC TCOF1 SNORA67
12 hypotrichosis 1 11.5
13 tumoral calcinosis, hyperphosphatemic, familial, 1 11.5
14 heart-hand syndrome, slovenian type 11.2
15 charge syndrome 11.1
16 dyskeratosis congenita, autosomal recessive 5 11.0
17 hyperinsulinemic hypoglycemia, familial, 6 10.9
18 hypotrichosis simplex 10.9
19 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
20 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
21 leukoplakia 10.6
22 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.6
23 oral leukoplakia 10.4
24 dowling-degos disease 1 10.3
25 gastrointestinal carcinoma 10.3
26 portal hypertension 10.3
27 gastrointestinal system cancer 10.3
28 gastric adenocarcinoma 10.3
29 herpes zoster 10.3
30 erythrokeratoderma ''en cocardes'' 10.3
31 splenomegaly 10.3
32 rare genetic skin disease 10.3
33 hyperpigmentation of the skin 10.3
34 cerebellar malformation 10.3
35 enterocolitis 10.3
36 substance abuse 10.3
37 torch syndrome 10.2 TERC DKC1
38 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.2
39 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.2
40 dyskeratosis congenita, autosomal dominant 2 10.2
41 nail disorder, nonsyndromic congenital, 9 10.2
42 myelodysplastic syndrome 10.2
43 dyskeratosis congenita, autosomal recessive 6 10.2
44 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 10.2
45 dyskeratosis congenita, autosomal dominant 6 10.2
46 deficiency anemia 10.2
47 autosomal recessive disease 10.2
48 pontocerebellar hypoplasia 10.2
49 primary microcephaly 10.2
50 combined immunodeficiency 10.2

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 51)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
3 global developmental delay 31 very rare (1%) HP:0001263
4 intellectual disability 31 HP:0001249
5 hyperhidrosis 31 HP:0000975
6 cataract 31 HP:0000518
7 carious teeth 31 HP:0000670
8 microcephaly 31 HP:0000252
9 optic atrophy 31 HP:0000648
10 short stature 31 HP:0004322
11 immunodeficiency 31 HP:0002721
12 anemia 31 HP:0001903
13 strabismus 31 HP:0000486
14 cryptorchidism 31 HP:0000028
15 osteoporosis 31 HP:0000939
16 intrauterine growth retardation 31 HP:0001511
17 horseshoe kidney 31 HP:0000085
18 alopecia 31 HP:0001596
19 cirrhosis 31 HP:0001394
20 thrombocytopenia 31 HP:0001873
21 pulmonary fibrosis 31 HP:0002206
22 myelodysplasia 31 HP:0002863
23 premature graying of hair 31 HP:0002216
24 hypospadias 31 HP:0000047
25 urethral stenosis 31 HP:0008661
26 conjunctivitis 31 HP:0000509
27 blepharitis 31 HP:0000498
28 decreased testicular size 31 HP:0008734
29 pterygium 31 HP:0001059
30 anal mucosal leukoplakia 31 HP:0005212
31 ridged nail 31 HP:0001807
32 oral leukoplakia 31 HP:0002745
33 bone marrow hypocellularity 31 HP:0005528
34 nail dystrophy 31 HP:0008404
35 sparse eyelashes 31 HP:0000653
36 pancytopenia 31 HP:0001876
37 leukopenia 31 HP:0001882
38 restrictive ventilatory defect 31 HP:0002091
39 squamous cell carcinoma 31 HP:0002860
40 premature loss of teeth 31 HP:0006480
41 dermal atrophy 31 HP:0004334
42 phimosis 31 HP:0001741
43 esophageal stricture 31 HP:0002043
44 hyperpigmentation of the skin 31 HP:0000953
45 reticulated skin pigmentation 31 HP:0007427
46 acute myeloid leukemia 31 HP:0004808
47 hodgkin lymphoma 31 HP:0012189
48 epiphora 31 HP:0009926
49 split nail 31 HP:0001809
50 pterygium of nails 31 HP:0002165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperhidrosis
skin atrophy
reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients)

Growth Height:
short stature

Hematology:
anemia
thrombocytopenia
myelodysplasia
pancytopenia
leukopenia
more
Skeletal:
osteoporosis

Abdomen Liver:
cirrhosis

Genitourinary External Genitalia Male:
hypospadias
phimosis

Abdomen Gastrointestinal:
anal mucosal leukoplakia
esophageal stricture

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

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
conjunctivitis
blepharitis
more
Immunology:
immunodeficiency
opportunistic infections (cmv, pneumocystis, candida)

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

Genitourinary Kidneys:
horseshoe kidney

Respiratory Lung:
pulmonary fibrosis
restrictive lung disease
reduced diffusion capacity

Genitourinary Bladder:
urethral stenosis

Skin Nails Hair Hair:
sparse eyelashes
hair loss
premature greying

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 (Updated 05-Apr-2021)

UMLS symptoms related to Dyskeratosis Congenita, X-Linked:


onychomadesis

GenomeRNAi Phenotypes related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 60S biogenesis defects GR00209-A-3 8.8 FBL RPL38 RPL5

Drugs & Therapeutics for Dyskeratosis Congenita, X-Linked

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
3
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
6
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
7 Gastrointestinal Agents Phase 2, Phase 3
8 Neuroprotective Agents Phase 2, Phase 3
9 Antiemetics Phase 2, Phase 3
10 Protective Agents Phase 2, Phase 3
11 Methylprednisolone Acetate Phase 2, Phase 3
12 glucocorticoids Phase 2, Phase 3
13 Anti-Inflammatory Agents Phase 2, Phase 3
14
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
15
Lenograstim Approved, Investigational Phase 2 135968-09-1
16
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
17
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
21
Mesna Approved, Investigational Phase 2 3375-50-6 598
22
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
23 Adjuvants, Immunologic Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Immunosuppressive Agents Phase 2
26 Anti-Infective Agents Phase 2
27 Cyclosporins Phase 2
28 Antirheumatic Agents Phase 2
29 Alkylating Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Antitubercular Agents Phase 2
32 Calcineurin Inhibitors Phase 2
33 Antifungal Agents Phase 2
34 Thymoglobulin Phase 2
35 Antilymphocyte Serum Phase 2
36 Hormones Phase 1, Phase 2
37 Hormone Antagonists Phase 1, Phase 2
38 Estrogens Phase 1, Phase 2
39 Estrogen Receptor Antagonists Phase 1, Phase 2
40 Estrogen Antagonists Phase 1, Phase 2
41
Abatacept Approved Phase 1 332348-12-6 10237
42
Pancrelipase Approved, Investigational 53608-75-6
43
alemtuzumab Approved, Investigational 216503-57-0
44
Alefacept Approved, Investigational, Withdrawn 222535-22-0
45 pancreatin
46 Antineoplastic Agents, Immunological
47 Immunologic Factors
48 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Transplant For Patients With Dyskeratosis Congenita and Severe Aplastic Anemia Completed NCT00455312 Phase 2, Phase 3 Campath 1H;Cyclophosphamide;Fludarabine;antithymocyte globulin;Methylprednisolone
2 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
3 Radiation- and Alkylator-free Hematopoietic Cell Transplantation for Bone Marrow Failure Due to Dyskeratosis Congenita / Telomere Disease Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
4 Haploidentical Donor Hematopoietic Cell Transplantation for Patients With Severe Aplastic Anemia Recruiting NCT04558736 Phase 2 Anti-Thymocyte Globulin (Rabbit);Fludarabine;Cyclophosphamide;Mesna;G-CSF
5 The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis Not yet recruiting NCT04638517 Phase 2 Danazol;Placebo
6 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
7 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
8 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070
9 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
10 Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study Recruiting NCT00027274
11 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Dyskeratosis Congenita, 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 Marrow, Bone, Skin, Kidney, Myeloid, Lung

Publications for Dyskeratosis Congenita, X-Linked

Articles related to Dyskeratosis Congenita, X-Linked:

(show top 50) (show all 70)
# Title Authors PMID Year
1
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome. 57 6
18627054 2008
2
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. 6 57
10700698 2000
3
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 6 57
10583221 1999
4
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 6 57
9590285 1998
5
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. 6 57
9042917 1997
6
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. 6 57
7607282 1995
7
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. 6 57
1361371 1992
8
Assignment of the gene for dyskeratosis congenita to Xq28. 57 6
3009302 1986
9
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
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. 57
23946118 2013
12
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 57
23453664 2013
13
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 57
21602826 2011
14
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. 57
21415081 2011
15
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 6
19734544 2009
16
Dyskeratosis congenita: a genetic disorder of many faces. 57
18005359 2008
17
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. 57
17015423 2006
18
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. 57
16690864 2006
19
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. 6
15842668 2005
20
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
21
Successful umbilical cord blood transplantation in a child with dyskeratosis congenita after a fludarabine-based reduced-intensity conditioning regimen. 57
12406104 2002
22
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
23
Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. 57
11851894 2002
24
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. 6
11379875 2001
25
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). 6
11491307 2001
26
A telomerase component is defective in the human disease dyskeratosis congenita. 57
10591218 1999
27
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. 6
10438713 1999
28
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 6
10364516 1999
29
Dyskeratosis Congenita (DC) Registry: identification of new features of DC. 57
9886310 1998
30
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. 57
10029349 1998
31
Chronic keratoconjunctivitis associated with congenital dyskeratosis and erythrokeratodermia variablis. Two rare genodermatoses. 57
9663235 1998
32
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. 57
9310472 1997
33
Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita. 57
9311754 1997
34
What are the essential symptoms in the Hoyeraal-Hreidarsson syndrome? 57
9007502 1997
35
Fine mapping of the dyskeratosis congenita locus in Xq28. 57
9004129 1996
36
Dyskeratosis congenita: an inherited bone marrow failure syndrome. 57
8616066 1996
37
The Hoyeraal-Hreidarsson syndrome: don't forget the associated immunodeficiency. 57
8801113 1995
38
Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome. 57
8533857 1995
39
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. 57
7977464 1994
40
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. 57
8033921 1994
41
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. 57
8105085 1993
42
Dyskeratosis congenita: unusual presenting features within a kindred. 57
8318369 1993
43
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. 57
1281384 1992
44
Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. 57
1390173 1992
45
Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus. 57
1376473 1992
46
"Stem cell" origin of the hematopoietic defect in dyskeratosis congenita. 57
1596563 1992
47
Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. 57
1375530 1992
48
Late vascular complications after bone marrow transplantation for dyskeratosis congenita. 57
1958493 1991
49
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts. 57
2301400 1990
50
Dyskeratosis congenita. 57
3236366 1988

Variations for Dyskeratosis Congenita, X-Linked

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

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DKC1 NM_001363.5(DKC1):c.106T>G (p.Phe36Val) SNV Pathogenic 11582 rs121912293 GRCh37: X:153993740-153993740
GRCh38: X:154765465-154765465
2 DKC1 NM_001363.5(DKC1):c.109_111del (p.Leu37del) Deletion Pathogenic 11583 rs137854489 GRCh37: X:153993741-153993743
GRCh38: X:154765466-154765468
3 DKC1 NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) SNV Pathogenic 11584 rs121912292 GRCh37: X:153993753-153993753
GRCh38: X:154765478-154765478
4 DKC1 NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) Indel Pathogenic 11585 rs121912294 GRCh37: X:153994224-153994225
GRCh38: X:154765949-154765950
5 DKC1 NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) SNV Pathogenic 11586 rs121912295 GRCh37: X:154002926-154002926
GRCh38: X:154774651-154774651
6 DKC1 NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) SNV Pathogenic 11587 rs121912288 GRCh37: X:154001427-154001427
GRCh38: X:154773152-154773152
7 DKC1 NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del Deletion Pathogenic 11588 GRCh37:
GRCh38: X:154776372-154778319
8 DKC1 NM_001363.5(DKC1):c.16+592C>G SNV Pathogenic 11590 rs1603429348 GRCh37: X:153991848-153991848
GRCh38: X:154763573-154763573
9 DKC1 NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) SNV Pathogenic 11593 rs28936072 GRCh37: X:153993747-153993747
GRCh38: X:154765472-154765472
10 DKC1 NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) SNV Pathogenic 11594 rs137854491 GRCh37: X:153993725-153993725
GRCh38: X:154765450-154765450
11 DKC1 NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) SNV Pathogenic 11595 rs137854492 GRCh37: X:154001438-154001438
GRCh38: X:154773163-154773163
12 DKC1 NM_001363.5(DKC1):c.1259+1G>A SNV Pathogenic 11596 rs1569558616 GRCh37: X:154002981-154002981
GRCh38: X:154774706-154774706
13 DKC1 NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) SNV Pathogenic 38931 rs121912300 GRCh37: X:154001418-154001418
GRCh38: X:154773143-154773143
14 DKC1 NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) SNV Pathogenic 38932 rs121912298 GRCh37: X:154001419-154001419
GRCh38: X:154773144-154773144
15 DKC1 NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) SNV Pathogenic 38933 rs199422249 GRCh37: X:154001444-154001444
GRCh38: X:154773169-154773169
16 DKC1 NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) SNV Pathogenic 38934 rs199422250 GRCh37: X:154001519-154001519
GRCh38: X:154773244-154773244
17 DKC1 NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) SNV Pathogenic 38935 rs199422251 GRCh37: X:154001520-154001520
GRCh38: X:154773245-154773245
18 DKC1 NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) SNV Pathogenic 38936 rs199422252 GRCh37: X:154002877-154002877
GRCh38: X:154774602-154774602
19 DKC1 NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) SNV Pathogenic 38937 rs121912296 GRCh37: X:153993749-153993749
GRCh38: X:154765474-154765474
20 DKC1 NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) SNV Pathogenic 38938 rs199422253 GRCh37: X:154002914-154002914
GRCh38: X:154774639-154774639
21 DKC1 NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) SNV Pathogenic 38939 rs121912299 GRCh37: X:154002925-154002925
GRCh38: X:154774650-154774650
22 DKC1 NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) SNV Pathogenic 38940 rs121912302 GRCh37: X:153993755-153993755
GRCh38: X:154765480-154765480
23 DKC1 NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) SNV Pathogenic 38942 rs121912289 GRCh37: X:154002947-154002947
GRCh38: X:154774672-154774672
24 DKC1 NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) SNV Pathogenic 38943 rs199422243 GRCh37: X:153993761-153993761
GRCh38: X:154765486-154765486
25 DKC1 NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) SNV Pathogenic 38945 rs121912301 GRCh37: X:153994204-153994204
GRCh38: X:154765929-154765929
26 DKC1 NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) SNV Pathogenic 38946 rs121912297 GRCh37: X:153994206-153994206
GRCh38: X:154765931-154765931
27 DKC1 NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) SNV Pathogenic 38947 rs199422244 GRCh37: X:153994210-153994210
GRCh38: X:154765935-154765935
28 DKC1 NM_001363.5(DKC1):c.204C>A (p.His68Gln) SNV Pathogenic 38948 rs199422245 GRCh37: X:153994214-153994214
GRCh38: X:154765939-154765939
29 DKC1 NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) SNV Pathogenic 38949 rs199422242 GRCh37: X:153993186-153993186
GRCh38: X:154764911-154764911
30 DKC1 NM_001363.5(DKC1):c.5C>T (p.Ala2Val) SNV Pathogenic 38951 rs121912303 GRCh37: X:153991245-153991245
GRCh38: X:154762970-154762970
31 DKC1 NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) SNV Pathogenic 38952 rs146700772 GRCh37: X:153997508-153997508
GRCh38: X:154769233-154769233
32 DKC1 NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) SNV Pathogenic 38953 rs199422247 GRCh37: X:153997581-153997581
GRCh38: X:154769306-154769306
33 DKC1 NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) SNV Pathogenic 38954 rs137854491 GRCh37: X:153993725-153993725
GRCh38: X:154765450-154765450
34 DKC1 NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) SNV Pathogenic 38955 rs199422248 GRCh37: X:153999059-153999059
GRCh38: X:154770784-154770784
35 DKC1 NM_001363.5(DKC1):c.949C>G (p.Leu317Val) SNV Pathogenic 38956 rs121912290 GRCh37: X:153999067-153999067
GRCh38: X:154770792-154770792
36 DKC1 NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) SNV Pathogenic 38957 rs121912290 GRCh37: X:153999067-153999067
GRCh38: X:154770792-154770792
37 DKC1 NM_001363.5(DKC1):c.961C>G (p.Leu321Val) SNV Pathogenic 38958 rs2728726 GRCh37: X:153999079-153999079
GRCh38: X:154770804-154770804
38 DKC1 NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) SNV Pathogenic 11593 rs28936072 GRCh37: X:153993747-153993747
GRCh38: X:154765472-154765472
39 DKC1 NM_001363.5(DKC1):c.203A>G (p.His68Arg) SNV Pathogenic 446380 rs1557264102 GRCh37: X:153994213-153994213
GRCh38: X:154765938-154765938
40 DKC1 NM_001363.5(DKC1):c.146C>T (p.Thr49Met) SNV Pathogenic 11591 rs121912304 GRCh37: X:153993780-153993780
GRCh38: X:154765505-154765505
41 DKC1 NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) SNV Pathogenic 11592 rs121912305 GRCh37: X:153994588-153994588
GRCh38: X:154766313-154766313
42 DKC1 NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) SNV Pathogenic 379736 rs1057520719 GRCh37: X:154001502-154001502
GRCh38: X:154773227-154773227
43 DKC1 NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) SNV Pathogenic 38941 rs199422254 GRCh37: X:154002944-154002944
GRCh38: X:154774669-154774669
44 DKC1 NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) SNV Pathogenic 38959 rs121912291 GRCh37: X:153999083-153999083
GRCh38: X:154770808-154770808
45 DKC1 NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) SNV Pathogenic 11592 rs121912305 GRCh37: X:153994588-153994588
GRCh38: X:154766313-154766313
46 DKC1 NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) SNV Pathogenic 38950 rs199422246 GRCh37: X:153995295-153995295
GRCh38: X:154767020-154767020
47 DKC1 NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) SNV Likely pathogenic 427887 rs1114167422 GRCh37: X:154001423-154001423
GRCh38: X:154773148-154773148
48 DKC1 NM_001363.5(DKC1):c.1195G>C (p.Asp399His) SNV Likely pathogenic 916631 GRCh37: X:154002916-154002916
GRCh38: X:154774641-154774641
49 DKC1 NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) SNV Likely pathogenic 930355 GRCh37: X:153993767-153993767
GRCh38: X:154765492-154765492
50 DKC1 NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) SNV Likely pathogenic 434943 rs1557265435 GRCh37: X:154002976-154002976
GRCh38: X:154774701-154774701

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

72 (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

Expression for Dyskeratosis Congenita, X-Linked

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

Pathways for Dyskeratosis Congenita, X-Linked

GO Terms for Dyskeratosis Congenita, X-Linked

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.19 TINF2 TERT TCOF1 SHQ1 RPS19 RPL5
2 chromosome, telomeric region GO:0000781 9.73 TINF2 TERT TERC NHP2
3 fibrillar center GO:0001650 9.69 TCOF1 FBL DKC1
4 box H/ACA telomerase RNP complex GO:0090661 9.56 TERC NOP10 NHP2 DKC1
5 Cajal body GO:0015030 9.56 TERC SHQ1 SCARNA4 SCARNA23 NOP10 NHP2
6 telomerase holoenzyme complex GO:0005697 9.55 TERT TERC NOP10 NHP2 DKC1
7 box H/ACA snoRNP complex GO:0031429 9.54 NOP10 NHP2 DKC1
8 box H/ACA scaRNP complex GO:0072589 9.5 NOP10 NHP2 DKC1
9 nucleolus GO:0005730 9.5 TERT TCOF1 SNORA67 SNORA56 SNORA24 SNORA15
10 small nucleolar ribonucleoprotein complex GO:0005732 9.48 NOP10 NHP2
11 nuclear telomere cap complex GO:0000783 9.46 TINF2 TERT
12 telomerase catalytic core complex GO:0000333 9.4 TERT TERC

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 RNA processing GO:0006396 9.92 TRUB1 SNORA67 SNORA56 SNORA24 SNORA15 SCARNA4
2 translational initiation GO:0006413 9.73 RPS19 RPL5 RPL38
3 rRNA processing GO:0006364 9.73 RPS19 RPL5 NOP10 NHP2 FBL DKC1
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.71 RPS19 RPL5 RPL38
5 viral transcription GO:0019083 9.7 RPS19 RPL5 RPL38
6 ribosome biogenesis GO:0042254 9.69 NOP10 NHP2 DKC1
7 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.65 RPS19 RPL5 RPL38
8 pseudouridine synthesis GO:0001522 9.58 TRUB1 NOP10 DKC1
9 negative regulation of cellular senescence GO:2000773 9.55 TERT TERC
10 rRNA pseudouridine synthesis GO:0031118 9.54 NOP10 NHP2 DKC1
11 RNA modification GO:0009451 9.49 TRUB1 DKC1
12 mRNA pseudouridine synthesis GO:1990481 9.46 TRUB1 DKC1
13 ribonucleoprotein complex assembly GO:0022618 9.43 SHQ1 RPL38
14 snRNA pseudouridine synthesis GO:0031120 9.33 NOP10 NHP2 DKC1
15 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.26 SHQ1 NOP10 NHP2 DKC1
16 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 9.96 TRUB1 TERT TCOF1 RPS19 RPL5 RPL38
2 telomeric DNA binding GO:0042162 9.43 TINF2 TERT
3 pseudouridine synthase activity GO:0009982 9.4 TRUB1 DKC1
4 RNA-directed DNA polymerase activity GO:0003964 9.37 TERT TERC
5 telomerase activity GO:0003720 9.33 TERT TERC DKC1
6 telomerase RNA reverse transcriptase activity GO:0003721 9.32 TERT TERC
7 box H/ACA snoRNA binding GO:0034513 9.13 NOP10 NHP2 DKC1
8 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....