MCID: DYS164
MIFTS: 42

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 54 71 13
Dyskeratosis Congenita X-Linked 50 29
X-Linked Dyskeratosis Congenita 50 69
Hoyeraal-Hreidarsson Syndrome 71 69
Dkcx 50 71
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 71
Cerebellar Hypoplasia with Pancytopenia 71
Zinsser-Cole-Engman Syndrome 71
Zinsser Cole Engman Syndrome 50
Dyskeratosis Congenita 69
Hhs 71

Characteristics:

OMIM:

54
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 : 54
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 dyskeratosis congenita x-linked, is related to hypotrichosis 1 and tumoral calcinosis, hyperphosphatemic, familial, and has symptoms including short stature, optic atrophy and ataxia. An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1). The drugs alemtuzumab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

NIH Rare Diseases : 50 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 all 50)
id Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 11.5
2 tumoral calcinosis, hyperphosphatemic, familial 11.4
3 hypogonadotropic hypogonadism 7 without anosmia 11.3
4 heart-hand syndrome, slovenian type 11.3
5 hyperinsulinism-hyperammonemia syndrome 11.3
6 hemochromatosis 11.2
7 hypogonadotropic hypogonadism 11.0
8 hypothalamic hamartomas, somatic 10.9
9 dyskeratosis congenita, autosomal dominant 1 10.8
10 dyskeratosis congenita, autosomal recessive 5 10.8
11 kallmann syndrome 10.8
12 hypogonadotropic hypogonadism 2 with or without anosmia 10.8
13 hypotrichosis simplex 10.7
14 hypogonadotropic hypogonadism 14 with or without anosmia 10.6
15 hypogonadotropic hypogonadism 4 with or without anosmia 10.6
16 hypogonadotropic hypogonadism 10 with or without anosmia 10.6
17 hypogonadotropic hypogonadism 18 with or without anosmia 10.6
18 hypogonadotropic hypogonadism 19 with or without anosmia 10.6
19 hypogonadotropic hypogonadism 11 with or without anosmia 10.6
20 hypogonadotropic hypogonadism 8 with or without anosmia 10.6
21 hypogonadotropic hypogonadism 17 with or without anosmia 10.6
22 hypogonadotropic hypogonadism 3 with or without anosmia 10.6
23 hypogonadotropic hypogonadism 21 with anosmia 10.6
24 hypogonadotropic hypogonadism 16 with or without anosmia 10.6
25 hypogonadotropic hypogonadism 22, with or without anosmia 10.6
26 hypogonadotropic hypogonadism 20 with or without anosmia 10.6
27 hypogonadotropic hypogonadism 12 with or without anosmia 10.6
28 hypogonadotropic hypogonadism 13 with or without anosmia 10.6
29 hypogonadotropic hypogonadism 5 with or without anosmia 10.6
30 hypogonadotropic hypogonadism 15 with or without anosmia 10.6
31 hypogonadotropic hypogonadism 9 with or without anosmia 10.6
32 hypogonadotropic hypogonadism 6 with or without anosmia 10.6
33 dyskeratosis congenita 10.2
34 breast cancer 9.8
35 hypogonadism 9.8
36 hyperostosis 9.8
37 hypogonadotropism 9.8
38 hyperphosphatemia 9.8
39 siderosis 9.7
40 malignant hypertension 9.7
41 hemiplegia 9.7
42 pancreatic cancer 9.7
43 epilepsy 9.7
44 basal cell carcinoma 9.7
45 hiv-1 9.7
46 pancreatitis 9.7
47 lung cancer 9.7
48 hepatitis 9.7
49 hepatocellular carcinoma 9.7
50 autism spectrum disorder 9.7

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:

54

Growth- Height:
short stature

Hematology:
thrombocytopenia
anemia
leukopenia
pancytopenia
bone marrow failure
more
Genitourinary- External Genitalia Male:
hypospadias
phimosis

Genitourinary- Internal Genitalia Male:
cryptorchidism
testicular hypoplasia

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- Teeth:
early tooth loss
dental caries

Abdomen- Liver:
cirrhosis

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

Genitourinary- Bladder:
urethral stenosis

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

Abdomen- Gastroin testinal:
esophageal stricture
anal mucosal leukoplakia

Head And Neck- Eyes:
optic atrophy
strabismus
cataract
epiphora
sparse eyelashes
more
Skin Nails & Hair- Skin:
skin atrophy
hyperhidrosis
reticulated skin pigmentation, predominantly on face, neck, chest, arms (94% male patients)

Skeletal:
osteoporosis

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

Genitourinary- Kidneys:
horseshoe kidney

Respiratory- Lung:
restrictive lung disease
pulmonary fibrosis
reduced diffusion capacity

Skin Nails & Hair- Hair:
sparse eyelashes
hair loss
premature greying

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

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

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

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

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 52)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
7 Alkylating Agents Phase 2, Phase 3
8 Antiemetics Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Antilymphocyte Serum Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3
13 Antimetabolites, Antineoplastic Phase 2, Phase 3
14 Antineoplastic Agents, Hormonal Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1
16 Antiviral Agents Phase 2, Phase 3
17 Autonomic Agents Phase 2, Phase 3
18 Gastrointestinal Agents Phase 2, Phase 3
19 glucocorticoids Phase 2, Phase 3
20 Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Hormones Phase 2, Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
23 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
24 Methylprednisolone acetate Phase 2, Phase 3
25 Methylprednisolone Hemisuccinate Phase 2, Phase 3
26 Neuroprotective Agents Phase 2, Phase 3
27 Peripheral Nervous System Agents Phase 2, Phase 3
28 Prednisolone acetate Phase 2, Phase 3
29 Prednisolone hemisuccinate Phase 2, Phase 3
30 Prednisolone phosphate Phase 2, Phase 3
31 Protective Agents Phase 2, Phase 3
32
Lenograstim Approved Phase 2 135968-09-1
33
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
34
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
35
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Melphalan Approved Phase 2 148-82-3 4053 460612
38 Thiotepa Approved Phase 2 52-24-4 5453
39
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
40 Adjuvants, Immunologic Phase 2
41 Anti-Bacterial Agents Phase 2
42 Antibiotics, Antitubercular Phase 2
43 Antifungal Agents Phase 2
44 Calcineurin Inhibitors Phase 2
45 Cyclosporins Phase 2,Phase 1
46 Dermatologic Agents Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 Estrogen Antagonists Phase 1, Phase 2
49 Estrogens Phase 1, Phase 2
50
Abatacept Approved Phase 1 332348-12-6 10237

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA 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 Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2 Fludarabine;Cyclosporins;Mycophenolate mofetil
4 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
5 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
6 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
7 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
8 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420 Alemtuzumab;Fludarabine;Cyclophosphamide;Anti-thymocyte globulin
9 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation 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:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita X-Linked 29

Anatomical Context for Dyskeratosis Congenita, X-Linked

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

39
Skin, Bone, Bone Marrow, Liver, Lung, Kidney, Myeloid

Publications for Dyskeratosis Congenita, X-Linked

Variations for Dyskeratosis Congenita, X-Linked

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

71 (show all 22)
id 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)
id 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 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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