MCID: DYS164
MIFTS: 30

Dyskeratosis Congenita, X-Linked malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Dyskeratosis Congenita, X-Linked

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Dyskeratosis Congenita, X-Linked, Aliases & Descriptions:

Name: Dyskeratosis Congenita, X-Linked 45 10
X-Linked Dyskeratosis Congenita 41 22 60
Dyskeratosis Congenita X-Linked 41
 
Zinsser Cole Engman Syndrome 41
Dyskeratosis Congenita 60
Dkcx 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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OMIM45 305000

Summaries for Dyskeratosis Congenita, X-Linked

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OMIM:45 Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and... (305000) more...

MalaCards based summary: Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to pneumonia and cataract, and has symptoms including global developmental delay, ataxia and cerebellar hypoplasia. An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (dyskeratosis congenita 1, dyskerin). Affiliated tissues include skin, bone marrow and bone.

Related Diseases for Dyskeratosis Congenita, X-Linked

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

idRelated DiseaseScoreTop Affiliating Genes
1pneumonia10.7
2cataract10.5
3portal hypertension10.5
4dyskeratosis congenita10.5
5bronchiolitis obliterans10.3
6bronchiolitis10.3
7pancytopenia10.3
8dyskeratosis congenita, autosomal dominant 110.1

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



Diseases related to dyskeratosis congenita, x-linked

Symptoms for Dyskeratosis Congenita, X-Linked

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Symptoms by clinical synopsis from OMIM:

305000

Clinical features from OMIM:

305000

HPO human phenotypes related to Dyskeratosis Congenita, X-Linked:

(show all 49)
id Description Frequency HPO Source Accession
1 global developmental delay 25% HP:0001263
2 ataxia rare (5%) HP:0001251
3 cerebellar hypoplasia rare (5%) HP:0001321
4 cryptorchidism HP:0000028
5 hypospadias HP:0000047
6 horseshoe kidney HP:0000085
7 microcephaly HP:0000252
8 strabismus HP:0000486
9 blepharitis HP:0000498
10 conjunctivitis HP:0000509
11 cataract HP:0000518
12 optic atrophy HP:0000648
13 sparse eyelashes HP:0000653
14 carious teeth HP:0000670
15 osteoporosis HP:0000939
16 hyperpigmentation of the skin HP:0000953
17 hyperhidrosis HP:0000975
18 intellectual disability HP:0001249
19 cirrhosis HP:0001394
20 x-linked recessive inheritance HP:0001419
21 alopecia HP:0001596
22 phimosis HP:0001741
23 ridged nail HP:0001807
24 split nail HP:0001809
25 thrombocytopenia HP:0001873
26 pancytopenia HP:0001876
27 leukopenia HP:0001882
28 anemia HP:0001903
29 esophageal stricture HP:0002043
30 restrictive lung disease HP:0002091
31 pterygium formation (nails) HP:0002165
32 pulmonary fibrosis HP:0002206
33 premature graying of hair HP:0002216
34 immunodeficiency HP:0002721
35 oral leukoplakia HP:0002745
36 squamous cell carcinoma HP:0002860
37 myelodysplasia HP:0002863
38 short stature HP:0004322
39 dermal atrophy HP:0004334
40 acute myeloid leukemia HP:0004808
41 anal mucosal leukoplakia HP:0005212
42 bone marrow hypocellularity HP:0005528
43 premature loss of teeth HP:0006480
44 reticulated skin pigmentation HP:0007427
45 nail dystrophy HP:0008404
46 urethral stenosis HP:0008661
47 decreased testicular size HP:0008734
48 increased lacrimation HP:0009926
49 hodgkin lymphoma HP:0012189

Drugs & Therapeutics for Dyskeratosis Congenita, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita, X-Linked

Search NIH Clinical Center for Dyskeratosis Congenita, X-Linked

Genetic Tests for Dyskeratosis Congenita, X-Linked

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Genetic tests related to Dyskeratosis Congenita, X-Linked:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita X-Linked22

Anatomical Context for Dyskeratosis Congenita, X-Linked

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

31
Skin, Bone marrow, Bone, Liver, Kidney, Lung, Myeloid

Animal Models for Dyskeratosis Congenita, X-Linked or affiliated genes

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Publications for Dyskeratosis Congenita, X-Linked

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Variations for Dyskeratosis Congenita, X-Linked

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

62 (show all 22)
id Symbol AA change Variation ID SNP ID
1DKC1p.Phe36ValVAR_006811rs121912293
2DKC1p.Pro40ArgVAR_006813rs121912292
3DKC1p.Leu72TyrVAR_006814rs121912294
4DKC1p.Gly402GluVAR_006815rs121912295
5DKC1p.Ala353ValVAR_009264rs121912288
6DKC1p.Ala2ValVAR_010076rs121912303
7DKC1p.Lys39GluVAR_010077rs121912296
8DKC1p.Glu41LysVAR_010078rs121912302
9DKC1p.Arg65ThrVAR_010079rs121912301
10DKC1p.Thr66AlaVAR_010080rs121912297
11DKC1p.Leu321ValVAR_010081rs2728726
12DKC1p.Met350IleVAR_010082rs121912298
13DKC1p.Met350ThrVAR_010083rs121912300
14DKC1p.Gly402ArgVAR_010084rs121912299
15DKC1p.Ile38ThrVAR_015674rs28936072
16DKC1p.Thr49MetVAR_015675rs121912304
17DKC1p.Ser121GlyVAR_015676rs121912305
18DKC1p.Leu56SerVAR_063821rs121912287
19DKC1p.Leu72PheVAR_063822rs121912306
20DKC1p.Leu317PheVAR_063823rs121912290
21DKC1p.Arg322GlnVAR_063824rs121912291
22DKC1p.Pro409LeuVAR_063825rs121912289

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

6 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1DKC1NM_001363.4(DKC1): c.106T> G (p.Phe36Val)single nucleotide variantPathogenicrs121912293GRCh37Chr X, 153993740: 153993740
2DKC1NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del)deletionPathogenicrs137854489GRCh37Chr X, 153993743: 153993745
3DKC1NM_001363.4(DKC1): c.119C> G (p.Pro40Arg)single nucleotide variantPathogenicrs121912292GRCh37Chr X, 153993753: 153993753
4DKC1NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr)indelPathogenicrs121912294GRCh37Chr X, 153994224: 153994225
5DKC1NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu)single nucleotide variantPathogenicrs121912295GRCh37Chr X, 154002926: 154002926
6DKC1NM_001363.4(DKC1): c.1058C> T (p.Ala353Val)single nucleotide variantPathogenicrs121912288GRCh37Chr X, 154001427: 154001427
7DKC1NM_002436.3: c.*860_*2805deldeletionPathogenicGRCh38Chr X, 154776374: 154778317
8DKC1DKC1, -141C-Gsingle nucleotide variantPathogenic
9DKC1DKC1, IVS1, C-G, +592single nucleotide variantPathogenic
10DKC1NM_001363.4(DKC1): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs121912304GRCh37Chr X, 153993780: 153993780
11DKC1NM_001363.4(DKC1): c.361A> G (p.Ser121Gly)single nucleotide variantPathogenicrs121912305GRCh37Chr X, 153994588: 153994588
12DKC1NM_001363.4(DKC1): c.113T> C (p.Ile38Thr)single nucleotide variantPathogenicGRCh37Chr X, 153993747: 153993747
13DKC1NM_001363.4(DKC1): c.91C> A (p.Gln31Lys)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
14DKC1NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala)single nucleotide variantPathogenicrs137854492GRCh37Chr X, 154001438: 154001438
15DKC1DKC1, IVS12DS, G-A, +1single nucleotide variantPathogenic
16DKC1NM_001363.4(DKC1): c.1049T> C (p.Met350Thr)single nucleotide variantPathogenicrs121912300GRCh37Chr X, 154001418: 154001418
17DKC1NM_001363.4(DKC1): c.1050G> A (p.Met350Ile)single nucleotide variantPathogenicrs121912298GRCh37Chr X, 154001419: 154001419
18DKC1NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn)single nucleotide variantPathogenicrs199422249GRCh37Chr X, 154001444: 154001444
19DKC1NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser)single nucleotide variantPathogenicrs199422250GRCh37Chr X, 154001519: 154001519
20DKC1NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicrs199422251GRCh37Chr X, 154001520: 154001520
21DKC1NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr)single nucleotide variantPathogenicrs199422252GRCh37Chr X, 154002877: 154002877
22DKC1NM_001363.4(DKC1): c.115A> G (p.Lys39Glu)single nucleotide variantPathogenicrs121912296GRCh37Chr X, 153993749: 153993749
23DKC1NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro)single nucleotide variantPathogenicrs199422253GRCh37Chr X, 154002914: 154002914
24DKC1NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg)single nucleotide variantPathogenicrs121912299GRCh37Chr X, 154002925: 154002925
25DKC1NM_001363.4(DKC1): c.121G> A (p.Glu41Lys)single nucleotide variantPathogenicrs121912302GRCh37Chr X, 153993755: 153993755
26DKC1NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile)single nucleotide variantPathogenicrs199422254GRCh37Chr X, 154002944: 154002944
27DKC1NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu)single nucleotide variantPathogenicrs121912289GRCh37Chr X, 154002947: 154002947
28DKC1NM_001363.4(DKC1): c.127A> G (p.Lys43Glu)single nucleotide variantPathogenicrs199422243GRCh37Chr X, 153993761: 153993761
29DKC1DKC1: c.-142C> Gsingle nucleotide variantPathogenicrs199422241GRCh37Chr X, 153991099: 153991099
30DKC1NM_001363.4(DKC1): c.194G> C (p.Arg65Thr)single nucleotide variantPathogenicrs121912301GRCh37Chr X, 153994204: 153994204
31DKC1NM_001363.4(DKC1): c.196A> G (p.Thr66Ala)single nucleotide variantPathogenicrs121912297GRCh37Chr X, 153994206: 153994206
32DKC1NM_001363.4(DKC1): c.200C> T (p.Thr67Ile)single nucleotide variantPathogenicrs199422244GRCh37Chr X, 153994210: 153994210
33DKC1NM_001363.4(DKC1): c.204C> A (p.His68Gln)single nucleotide variantPathogenicrs199422245GRCh37Chr X, 153994214: 153994214
34DKC1NM_001363.4(DKC1): c.29C> T (p.Pro10Leu)single nucleotide variantPathogenicrs199422242GRCh37Chr X, 153993186: 153993186
35DKC1NM_001363.4(DKC1): c.472C> T (p.Arg158Trp)single nucleotide variantPathogenicrs199422246GRCh37Chr X, 153995295: 153995295
36DKC1NM_001363.4(DKC1): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs121912303GRCh37Chr X, 153991245: 153991245
37DKC1NM_001363.4(DKC1): c.838A> C (p.Ser280Arg)single nucleotide variantPathogenicrs146700772GRCh37Chr X, 153997508: 153997508
38DKC1NM_001363.4(DKC1): c.911G> A (p.Ser304Asn)single nucleotide variantPathogenicrs199422247GRCh37Chr X, 153997581: 153997581
39DKC1NM_001363.4(DKC1): c.91C> G (p.Gln31Glu)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
40DKC1NM_001363.4(DKC1): c.941A> G (p.Lys314Arg)single nucleotide variantPathogenicrs199422248GRCh37Chr X, 153999059: 153999059
41DKC1NM_001363.4(DKC1): c.949C> G (p.Leu317Val)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
42DKC1NM_001363.4(DKC1): c.949C> T (p.Leu317Phe)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
43DKC1NM_001363.4(DKC1): c.961C> G (p.Leu321Val)single nucleotide variantPathogenicGRCh37Chr X, 153999079: 153999079
44DKC1NM_001363.4(DKC1): c.965G> A (p.Arg322Gln)single nucleotide variantPathogenicrs121912291GRCh37Chr X, 153999083: 153999083

Expression for genes affiliated with Dyskeratosis Congenita, X-Linked

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

Pathways for genes affiliated with Dyskeratosis Congenita, X-Linked

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Compounds for genes affiliated with Dyskeratosis Congenita, X-Linked

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GO Terms for genes affiliated with Dyskeratosis Congenita, X-Linked

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Products for genes affiliated with Dyskeratosis Congenita, X-Linked

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  • Antibodies
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Sources for Dyskeratosis Congenita, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet