HHS
MCID: DYS164
MIFTS: 56

Dyskeratosis Congenita, X-Linked (HHS)

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 57 75 13
X-Linked Dyskeratosis Congenita 12 53 15 73
Dkcx 57 12 53 75
Dyskeratosis Congenita X-Linked 53 29 6
Zinsser-Cole-Engman Syndrome 57 12 75
Hoyeraal-Hreidarsson Syndrome 75 73
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 75
Cerebellar Hypoplasia with Pancytopenia 75
Dyskeratosis Congenita, X-Linked ) 40
Zinsser Cole Engman Syndrome 53
Dyskeratosis Congenita 73
Hhs 75

Characteristics:

OMIM:

57
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:

32
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)

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 Telomere C-strand (Lagging Strand) Synthesis and Chromosome Maintenance. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are hyperhidrosis and intellectual disability

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

UniProtKB/Swiss-Prot : 75 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 94)
# Related Disease Score Top Affiliating Genes
1 congenital intrauterine infection-like syndrome 32.7 DKC1 TERC
2 revesz syndrome 31.9 DKC1 NOP10 TERC
3 dyskeratosis congenita, autosomal dominant 1 31.5 DKC1 TERC
4 dyskeratosis congenita autosomal recessive 30.1 NOP10 WRAP53
5 aplastic anemia 30.1 DKC1 NOP10 TERC
6 dyskeratosis congenita 29.7 DKC1 NOP10 TERC WRAP53
7 hypotrichosis 1 11.9
8 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
9 hemochromatosis, type 1 11.6
10 hypogonadotropic hypogonadism 7 with or without anosmia 11.6
11 heart-hand syndrome, slovenian type 11.6
12 hypothalamic hamartomas 11.2
13 charge syndrome 11.2
14 hypogonadotropic hypogonadism 2 with or without anosmia 11.0
15 dyskeratosis congenita, autosomal recessive 5 11.0
16 kallmann syndrome 11.0
17 hyperinsulinemic hypoglycemia, familial, 6 11.0
18 hypotrichosis simplex 11.0
19 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
20 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
21 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
23 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
24 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
38 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
39 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
40 pneumocystosis 10.7
41 pneumonia 10.7
42 cataract 10.5
43 portal hypertension 10.5
44 cerebellar hypoplasia 10.5
45 pallister-hall syndrome 10.3
46 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.3
47 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.3
48 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.3
49 severe combined immunodeficiency 10.3
50 pontocerebellar hypoplasia 10.3

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

Symptoms via clinical synopsis from OMIM:

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

Growth Height:
short stature

Respiratory Lung:
pulmonary fibrosis
restrictive lung disease
reduced diffusion capacity

Hematology:
anemia
pancytopenia
myelodysplasia
thrombocytopenia
leukopenia
more
Genitourinary Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

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
Skeletal:
osteoporosis

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

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

Genitourinary Kidneys:
horseshoe kidney

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

Human phenotypes related to Dyskeratosis Congenita, X-Linked:

32 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 intellectual disability 32 hallmark (90%) HP:0001249
3 ataxia 32 occasional (7.5%) HP:0001251
4 failure to thrive 32 hallmark (90%) HP:0001508
5 cerebral calcification 32 occasional (7.5%) HP:0002514
6 cataract 32 HP:0000518
7 global developmental delay 32 very rare (1%) HP:0001263
8 carious teeth 32 HP:0000670
9 microcephaly 32 hallmark (90%) HP:0000252
10 optic atrophy 32 HP:0000648
11 short stature 32 hallmark (90%) HP:0004322
12 hypertonia 32 frequent (33%) HP:0001276
13 osteoporosis 32 HP:0000939
14 pulmonary fibrosis 32 HP:0002206
15 immunodeficiency 32 hallmark (90%) HP:0002721
16 anemia 32 frequent (33%) HP:0001903
17 pancytopenia 32 HP:0001876
18 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
19 myelodysplasia 32 HP:0002863
20 acute myeloid leukemia 32 HP:0004808
21 neoplasm 32 occasional (7.5%) HP:0002664
22 nail dystrophy 32 frequent (33%) HP:0008404
23 strabismus 32 HP:0000486
24 cryptorchidism 32 HP:0000028
25 intrauterine growth retardation 32 hallmark (90%) HP:0001511
26 horseshoe kidney 32 HP:0000085
27 alopecia 32 HP:0001596
28 cirrhosis 32 HP:0001394
29 thrombocytopenia 32 hallmark (90%) HP:0001873
30 ventriculomegaly 32 frequent (33%) HP:0002119
31 cerebral cortical atrophy 32 frequent (33%) HP:0002120
32 premature graying of hair 32 frequent (33%) HP:0002216
33 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
34 blepharitis 32 HP:0000498
35 hypospadias 32 HP:0000047
36 decreased testicular size 32 HP:0008734
37 sparse scalp hair 32 frequent (33%) HP:0002209
38 conjunctivitis 32 HP:0000509
39 urethral stenosis 32 HP:0008661
40 hyporeflexia 32 occasional (7.5%) HP:0001265
41 abnormality of coagulation 32 frequent (33%) HP:0001928
42 generalized hyperpigmentation 32 frequent (33%) HP:0007440
43 generalized hypopigmentation of hair 32 frequent (33%) HP:0011358
44 pterygium 32 HP:0001059
45 ridged nail 32 HP:0001807
46 anal mucosal leukoplakia 32 HP:0005212
47 squamous cell carcinoma 32 HP:0002860
48 oral leukoplakia 32 frequent (33%) HP:0002745
49 sparse eyelashes 32 HP:0000653
50 leukopenia 32 HP:0001882

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 Decreased homologous recombination repair frequency GR00236-A-1 9.17 NOP10 RUVBL1 WRAP53
2 Decreased homologous recombination repair frequency GR00236-A-2 9.17 NOP10 RUVBL1 WRAP53
3 Decreased homologous recombination repair frequency GR00236-A-3 9.17 RUVBL1

Drugs & Therapeutics for Dyskeratosis Congenita, X-Linked

Search Clinical Trials , 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:

41
Skin, Bone, Bone Marrow, Liver, Lung, Kidney, Myeloid

Publications for Dyskeratosis Congenita, X-Linked

Articles related to Dyskeratosis Congenita, X-Linked:

(show all 29)
# Title Authors Year
1
Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein. ( 25499969 )
2015
2
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
3
Expression of the genetic suppressor element 24.2 (GSE24.2) decreases DNA damage and oxidative stress in X-linked dyskeratosis congenita cells. ( 24987982 )
2014
4
X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora. ( 24635067 )
2014
5
A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency. ( 22431397 )
2013
6
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation. ( 24115260 )
2013
7
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. ( 22058290 )
2012
8
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. ( 21415081 )
2011
9
Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita. ( 20453831 )
2010
10
Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy. ( 19633571 )
2009
11
A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. ( 18057229 )
2008
12
X-linked dyskeratosis congenita in Malaysia. ( 17417794 )
2008
13
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. ( 17015423 )
2006
14
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. ( 16690864 )
2006
15
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. ( 15842668 )
2005
16
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. ( 15349768 )
2004
17
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). ( 14648217 )
2003
18
Missense mutation in a patient with X-linked dyskeratosis congenita. ( 12681984 )
2003
19
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. ( 12400016 )
2002
20
DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. ( 12513020 )
2002
21
A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. ( 12186364 )
2002
22
X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. ( 11641517 )
2001
23
Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita. ( 11522545 )
2001
24
Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. ( 9888995 )
1999
25
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. ( 10364516 )
1999
26
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. ( 9590285 )
1998
27
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. ( 9863595 )
1998
28
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. ( 9310472 )
1997
29
X-linked dyskeratosis congenita with pancytopenia. ( 568915 )
1978

Variations for Dyskeratosis Congenita, X-Linked

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

75 (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

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

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 DKC1 NM_001363.4(DKC1): c.106T> G (p.Phe36Val) single nucleotide variant Pathogenic rs121912293 GRCh37 Chromosome X, 153993740: 153993740
2 DKC1 NM_001363.4(DKC1): c.106T> G (p.Phe36Val) single nucleotide variant Pathogenic rs121912293 GRCh38 Chromosome X, 154765465: 154765465
3 DKC1 NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del) deletion Likely pathogenic rs137854489 GRCh37 Chromosome X, 153993743: 153993745
4 DKC1 NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del) deletion Likely pathogenic rs137854489 GRCh38 Chromosome X, 154765468: 154765470
5 DKC1 NM_001363.4(DKC1): c.119C> G (p.Pro40Arg) single nucleotide variant Pathogenic rs121912292 GRCh37 Chromosome X, 153993753: 153993753
6 DKC1 NM_001363.4(DKC1): c.119C> G (p.Pro40Arg) single nucleotide variant Pathogenic rs121912292 GRCh38 Chromosome X, 154765478: 154765478
7 DKC1 NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr) indel Pathogenic rs121912294 GRCh37 Chromosome X, 153994224: 153994225
8 DKC1 NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr) indel Pathogenic rs121912294 GRCh38 Chromosome X, 154765949: 154765950
9 DKC1 NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu) single nucleotide variant Pathogenic rs121912295 GRCh37 Chromosome X, 154002926: 154002926
10 DKC1 NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu) single nucleotide variant Pathogenic rs121912295 GRCh38 Chromosome X, 154774651: 154774651
11 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
12 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh38 Chromosome X, 154773152: 154773152
13 DKC1 NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 154776372: 154778319
14 DKC1 DKC1, -141C-G, PROMOTER single nucleotide variant Pathogenic
15 DKC1 DKC1, IVS1, C-G, +592 single nucleotide variant Pathogenic
16 DKC1 NM_001363.4(DKC1): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh37 Chromosome X, 153993780: 153993780
17 DKC1 NM_001363.4(DKC1): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh38 Chromosome X, 154765505: 154765505
18 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
19 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Likely pathogenic rs121912305 GRCh38 Chromosome X, 154766313: 154766313
20 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
21 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh38 Chromosome X, 154765472: 154765472
22 DKC1 NM_001363.4(DKC1): c.91C> A (p.Gln31Lys) single nucleotide variant Pathogenic rs137854491 GRCh37 Chromosome X, 153993725: 153993725
23 DKC1 NM_001363.4(DKC1): c.91C> A (p.Gln31Lys) single nucleotide variant Pathogenic rs137854491 GRCh38 Chromosome X, 154765450: 154765450
24 DKC1 NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala) single nucleotide variant Pathogenic rs137854492 GRCh37 Chromosome X, 154001438: 154001438
25 DKC1 NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala) single nucleotide variant Pathogenic rs137854492 GRCh38 Chromosome X, 154773163: 154773163
26 DKC1 DKC1, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
27 DKC1 NM_001363.4(DKC1): c.1049T> C (p.Met350Thr) single nucleotide variant Pathogenic rs121912300 GRCh37 Chromosome X, 154001418: 154001418
28 DKC1 NM_001363.4(DKC1): c.1049T> C (p.Met350Thr) single nucleotide variant Pathogenic rs121912300 GRCh38 Chromosome X, 154773143: 154773143
29 DKC1 NM_001363.4(DKC1): c.1050G> A (p.Met350Ile) single nucleotide variant Pathogenic rs121912298 GRCh37 Chromosome X, 154001419: 154001419
30 DKC1 NM_001363.4(DKC1): c.1050G> A (p.Met350Ile) single nucleotide variant Pathogenic rs121912298 GRCh38 Chromosome X, 154773144: 154773144
31 DKC1 NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn) single nucleotide variant Pathogenic rs199422249 GRCh37 Chromosome X, 154001444: 154001444
32 DKC1 NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn) single nucleotide variant Pathogenic rs199422249 GRCh38 Chromosome X, 154773169: 154773169
33 DKC1 NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser) single nucleotide variant Pathogenic rs199422250 GRCh37 Chromosome X, 154001519: 154001519
34 DKC1 NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser) single nucleotide variant Pathogenic rs199422250 GRCh38 Chromosome X, 154773244: 154773244
35 DKC1 NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu) single nucleotide variant Pathogenic rs199422251 GRCh37 Chromosome X, 154001520: 154001520
36 DKC1 NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu) single nucleotide variant Pathogenic rs199422251 GRCh38 Chromosome X, 154773245: 154773245
37 DKC1 NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr) single nucleotide variant Pathogenic rs199422252 GRCh37 Chromosome X, 154002877: 154002877
38 DKC1 NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr) single nucleotide variant Pathogenic rs199422252 GRCh38 Chromosome X, 154774602: 154774602
39 DKC1 NM_001363.4(DKC1): c.115A> G (p.Lys39Glu) single nucleotide variant Pathogenic rs121912296 GRCh37 Chromosome X, 153993749: 153993749
40 DKC1 NM_001363.4(DKC1): c.115A> G (p.Lys39Glu) single nucleotide variant Pathogenic rs121912296 GRCh38 Chromosome X, 154765474: 154765474
41 DKC1 NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro) single nucleotide variant Pathogenic rs199422253 GRCh37 Chromosome X, 154002914: 154002914
42 DKC1 NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro) single nucleotide variant Pathogenic rs199422253 GRCh38 Chromosome X, 154774639: 154774639
43 DKC1 NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg) single nucleotide variant Pathogenic rs121912299 GRCh37 Chromosome X, 154002925: 154002925
44 DKC1 NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg) single nucleotide variant Pathogenic rs121912299 GRCh38 Chromosome X, 154774650: 154774650
45 DKC1 NM_001363.4(DKC1): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs121912302 GRCh37 Chromosome X, 153993755: 153993755
46 DKC1 NM_001363.4(DKC1): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs121912302 GRCh38 Chromosome X, 154765480: 154765480
47 DKC1 NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile) single nucleotide variant Pathogenic rs199422254 GRCh37 Chromosome X, 154002944: 154002944
48 DKC1 NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile) single nucleotide variant Pathogenic rs199422254 GRCh38 Chromosome X, 154774669: 154774669
49 DKC1 NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu) single nucleotide variant Pathogenic rs121912289 GRCh37 Chromosome X, 154002947: 154002947
50 DKC1 NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu) single nucleotide variant Pathogenic rs121912289 GRCh38 Chromosome X, 154774672: 154774672

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

7
# 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, 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 DKC1 RUVBL1 WRAP53
2
Show member pathways
11.33 DKC1 RUVBL1 WRAP53
3 11.18 DKC1 NOP10

GO Terms for Dyskeratosis Congenita, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 Cajal body GO:0015030 9.46 DKC1 NOP10 TERC WRAP53
2 chromosome, telomeric region GO:0000781 9.37 TERC WRAP53
3 box H/ACA snoRNP complex GO:0031429 9.32 DKC1 NOP10
4 box H/ACA scaRNP complex GO:0072589 9.26 DKC1 NOP10
5 box H/ACA telomerase RNP complex GO:0090661 9.13 DKC1 NOP10 TERC
6 telomerase holoenzyme complex GO:0005697 8.92 DKC1 NOP10 TERC WRAP53

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

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.48 DKC1 NOP10
2 ribosome biogenesis GO:0042254 9.46 DKC1 NOP10
3 positive regulation of telomerase activity GO:0051973 9.43 DKC1 WRAP53
4 pseudouridine synthesis GO:0001522 9.4 DKC1 NOP10
5 positive regulation of establishment of protein localization to telomere GO:1904851 9.37 DKC1 WRAP53
6 scaRNA localization to Cajal body GO:0090666 9.32 DKC1 WRAP53
7 rRNA pseudouridine synthesis GO:0031118 9.26 DKC1 NOP10
8 snRNA pseudouridine synthesis GO:0031120 9.16 DKC1 NOP10
9 positive regulation of telomerase RNA localization to Cajal body GO:1904874 9.13 DKC1 NOP10 RUVBL1
10 telomere maintenance via telomerase GO:0007004 8.92 DKC1 NOP10 TERC WRAP53

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

# Name GO ID Score Top Affiliating Genes
1 telomerase activity GO:0003720 9.16 DKC1 TERC
2 box H/ACA snoRNA binding GO:0034513 8.96 DKC1 NOP10
3 telomerase RNA binding GO:0070034 8.8 DKC1 NOP10 WRAP53

Sources for Dyskeratosis Congenita, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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