MCID: DYS164
MIFTS: 40

Dyskeratosis Congenita, X-Linked

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dyskeratosis Congenita, X-Linked

MalaCards integrated aliases for Dyskeratosis Congenita, X-Linked:

Name: Dyskeratosis Congenita, X-Linked 53 71 13
Dkcx 53 49 71
Dyskeratosis Congenita X-Linked 49 28
X-Linked Dyskeratosis Congenita 49 69
Hoyeraal-Hreidarsson Syndrome 71 69
Zinsser-Cole-Engman Syndrome 53 71
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 71
Cerebellar Hypoplasia with Pancytopenia 71
Zinsser Cole Engman Syndrome 49
Dyskeratosis Congenita 69
Hhs 71

Characteristics:

OMIM:

53
Inheritance:
x-linked recessive

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


HPO:

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


Classifications:



Summaries for Dyskeratosis Congenita, X-Linked

OMIM : 53 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 dkcx, is related to tumoral calcinosis, hyperphosphatemic, familial and hypotrichosis 1, and has symptoms including ataxia, hyperhidrosis and intellectual disability. An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1). Affiliated tissues include skin, bone and bone marrow.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Dyskeratosis congenita.

UniProtKB/Swiss-Prot : 71 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 55)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial 11.9
2 hypotrichosis 1 11.7
3 hemochromatosis, type 1 11.5
4 hypogonadotropic hypogonadism 7 with or without anosmia 11.4
5 heart-hand syndrome, slovenian type 11.4
6 hypothalamic hamartomas 11.0
7 charge syndrome 11.0
8 dyskeratosis congenita, autosomal dominant 1 10.9
9 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
10 dyskeratosis congenita, autosomal recessive 5 10.9
11 kallmann syndrome 10.9
12 hyperinsulinemic hypoglycemia, familial, 6 10.9
13 hypotrichosis simplex 10.9
14 hypogonadotropic hypogonadism 3 with or without anosmia 10.7
15 hypogonadotropic hypogonadism 4 with or without anosmia 10.7
16 hypogonadotropic hypogonadism 5 with or without anosmia 10.7
17 hypogonadotropic hypogonadism 6 with or without anosmia 10.7
18 hypogonadotropic hypogonadism 8 with or without anosmia 10.7
19 hypogonadotropic hypogonadism 9 with or without anosmia 10.7
20 hypogonadotropic hypogonadism 10 with or without anosmia 10.7
21 hypogonadotropic hypogonadism 11 with or without anosmia 10.7
22 hypogonadotropic hypogonadism 12 with or without anosmia 10.7
23 hypogonadotropic hypogonadism 13 with or without anosmia 10.7
24 hypogonadotropic hypogonadism 14 with or without anosmia 10.7
25 hypogonadotropic hypogonadism 15 with or without anosmia 10.7
26 hypogonadotropic hypogonadism 16 with or without anosmia 10.7
27 hypogonadotropic hypogonadism 17 with or without anosmia 10.7
28 hypogonadotropic hypogonadism 18 with or without anosmia 10.7
29 hypogonadotropic hypogonadism 19 with or without anosmia 10.7
30 hypogonadotropic hypogonadism 20 with or without anosmia 10.7
31 hypogonadotropic hypogonadism 21 with or without anosmia 10.7
32 hypogonadotropic hypogonadism 22 with or without anosmia 10.7
33 dyskeratosis congenita 10.0
34 hyperphosphatemia 9.9
35 hypogonadotropic hypogonadism 9.9
36 hypogonadism 9.9
37 hyperostosis 9.9
38 hypogonadotropism 9.9
39 atrial septal defect 1 9.8
40 hepatocellular carcinoma 9.8
41 autism 9.8
42 lung cancer 9.8
43 pancreatic cancer 9.8
44 aging 9.8
45 basal cell carcinoma 1 9.8
46 diabetes mellitus, ketosis-prone 9.8
47 hepatitis 9.8
48 autism spectrum disorder 9.8
49 siderosis 9.8
50 malignant hypertension 9.8

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:

53
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 Gastroin testinal:
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:

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

UMLS symptoms related to Dyskeratosis Congenita, X-Linked:


onychomadesis

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 28 DKC1

Anatomical Context for Dyskeratosis Congenita, X-Linked

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

38
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
Missense mutation in a patient with X-linked dyskeratosis congenita. ( 12681984 )
2003
18
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). ( 14648217 )
2003
19
A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. ( 12186364 )
2002
20
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. ( 12400016 )
2002
21
DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. ( 12513020 )
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
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. ( 10364516 )
1999
25
Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. ( 9888995 )
1999
26
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. ( 9863595 )
1998
27
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. ( 9590285 )
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:

71 (show all 22)
# 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

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

6 (show all 44)
# 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.109_111delCTT (p.Leu37del) deletion Pathogenic rs137854489 GRCh37 Chromosome X, 153993743: 153993745
3 DKC1 NM_001363.4(DKC1): c.119C> G (p.Pro40Arg) single nucleotide variant Pathogenic rs121912292 GRCh37 Chromosome X, 153993753: 153993753
4 DKC1 NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr) indel Pathogenic rs121912294 GRCh37 Chromosome X, 153994224: 153994225
5 DKC1 NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu) single nucleotide variant Pathogenic rs121912295 GRCh37 Chromosome X, 154002926: 154002926
6 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
7 DKC1 NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 154776372: 154778319
8 DKC1 DKC1, -141C-G, PROMOTER single nucleotide variant Pathogenic
9 DKC1 DKC1, IVS1, C-G, +592 single nucleotide variant Pathogenic
10 DKC1 NM_001363.4(DKC1): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh37 Chromosome X, 153993780: 153993780
11 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
12 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
13 DKC1 NM_001363.4(DKC1): c.91C> A (p.Gln31Lys) single nucleotide variant Pathogenic rs137854491 GRCh37 Chromosome X, 153993725: 153993725
14 DKC1 NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala) single nucleotide variant Pathogenic rs137854492 GRCh37 Chromosome X, 154001438: 154001438
15 DKC1 DKC1, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
16 DKC1 NM_001363.4(DKC1): c.1049T> C (p.Met350Thr) single nucleotide variant Pathogenic rs121912300 GRCh37 Chromosome X, 154001418: 154001418
17 DKC1 NM_001363.4(DKC1): c.1050G> A (p.Met350Ile) single nucleotide variant Pathogenic rs121912298 GRCh37 Chromosome X, 154001419: 154001419
18 DKC1 NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn) single nucleotide variant Pathogenic rs199422249 GRCh37 Chromosome X, 154001444: 154001444
19 DKC1 NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser) single nucleotide variant Pathogenic rs199422250 GRCh37 Chromosome X, 154001519: 154001519
20 DKC1 NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu) single nucleotide variant Pathogenic rs199422251 GRCh37 Chromosome X, 154001520: 154001520
21 DKC1 NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr) single nucleotide variant Pathogenic rs199422252 GRCh37 Chromosome X, 154002877: 154002877
22 DKC1 NM_001363.4(DKC1): c.115A> G (p.Lys39Glu) single nucleotide variant Pathogenic rs121912296 GRCh37 Chromosome X, 153993749: 153993749
23 DKC1 NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro) single nucleotide variant Pathogenic rs199422253 GRCh37 Chromosome X, 154002914: 154002914
24 DKC1 NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg) single nucleotide variant Pathogenic rs121912299 GRCh37 Chromosome X, 154002925: 154002925
25 DKC1 NM_001363.4(DKC1): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs121912302 GRCh37 Chromosome X, 153993755: 153993755
26 DKC1 NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile) single nucleotide variant Pathogenic rs199422254 GRCh37 Chromosome X, 154002944: 154002944
27 DKC1 NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu) single nucleotide variant Pathogenic rs121912289 GRCh37 Chromosome X, 154002947: 154002947
28 DKC1 NM_001363.4(DKC1): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs199422243 GRCh37 Chromosome X, 153993761: 153993761
29 DKC1 NM_001363.4(DKC1): c.194G> C (p.Arg65Thr) single nucleotide variant Pathogenic rs121912301 GRCh37 Chromosome X, 153994204: 153994204
30 DKC1 NM_001363.4(DKC1): c.196A> G (p.Thr66Ala) single nucleotide variant Pathogenic rs121912297 GRCh37 Chromosome X, 153994206: 153994206
31 DKC1 NM_001363.4(DKC1): c.200C> T (p.Thr67Ile) single nucleotide variant Pathogenic rs199422244 GRCh37 Chromosome X, 153994210: 153994210
32 DKC1 NM_001363.4(DKC1): c.204C> A (p.His68Gln) single nucleotide variant Pathogenic rs199422245 GRCh37 Chromosome X, 153994214: 153994214
33 DKC1 NM_001363.4(DKC1): c.29C> T (p.Pro10Leu) single nucleotide variant Pathogenic rs199422242 GRCh37 Chromosome X, 153993186: 153993186
34 DKC1 NM_001363.4(DKC1): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs121912303 GRCh37 Chromosome X, 153991245: 153991245
35 DKC1 NM_001363.4(DKC1): c.838A> C (p.Ser280Arg) single nucleotide variant Pathogenic rs146700772 GRCh37 Chromosome X, 153997508: 153997508
36 DKC1 NM_001363.4(DKC1): c.911G> A (p.Ser304Asn) single nucleotide variant Pathogenic rs199422247 GRCh37 Chromosome X, 153997581: 153997581
37 DKC1 NM_001363.4(DKC1): c.91C> G (p.Gln31Glu) single nucleotide variant Pathogenic rs137854491 GRCh37 Chromosome X, 153993725: 153993725
38 DKC1 NM_001363.4(DKC1): c.941A> G (p.Lys314Arg) single nucleotide variant Pathogenic rs199422248 GRCh37 Chromosome X, 153999059: 153999059
39 DKC1 NM_001363.4(DKC1): c.949C> G (p.Leu317Val) single nucleotide variant Pathogenic rs121912290 GRCh37 Chromosome X, 153999067: 153999067
40 DKC1 NM_001363.4(DKC1): c.949C> T (p.Leu317Phe) single nucleotide variant Pathogenic rs121912290 GRCh37 Chromosome X, 153999067: 153999067
41 DKC1 NM_001363.4(DKC1): c.961C> G (p.Leu321Val) single nucleotide variant Pathogenic rs2728726 GRCh37 Chromosome X, 153999079: 153999079
42 DKC1 NM_001363.4(DKC1): c.965G> A (p.Arg322Gln) single nucleotide variant Pathogenic rs121912291 GRCh37 Chromosome X, 153999083: 153999083
43 DKC1 NM_001363.4(DKC1): c.1054A> G (p.Thr352Ala) single nucleotide variant Likely pathogenic rs1114167422 GRCh37 Chromosome X, 154001423: 154001423
44 DKC1 NM_001363.4(DKC1): c.1255T> A (p.Tyr419Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 154002976: 154002976

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

Sources for Dyskeratosis Congenita, X-Linked

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