DKCX
MCID: DYS041
MIFTS: 48

Dyskeratosis Congenita X-Linked (DKCX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Blood diseases, Immune diseases categories

Summaries for Dyskeratosis Congenita X-Linked

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48OMIM, 34MalaCards
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MalaCards: Dyskeratosis Congenita X-Linked, also known as x-linked dyskeratosis congenita, is related to dyskeratosis congenita and pneumonia, and has symptoms including clotting/hemostasis disorders, anaemia and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Dyskeratosis Congenita X-Linked is DKC1 (dyskeratosis congenita 1, dyskerin), and among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Telomere Extension By Telomerase. The compounds adpribose and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related mouse phenotypes are reproductive system and normal.

Description from OMIM:48 305000

Aliases & Classifications for Dyskeratosis Congenita X-Linked

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Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 23GTR, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hoyeraal-hreidarsson syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

dyskeratosis congenita x-linked 44
x-linked dyskeratosis congenita 44 23 63
hoyeraal-hreidarsson syndrome 50 63
progressive pancytopenia - immunodeficiency - cerebellar hypoplasia 50
dyskeratosis congenita, x-linked 48
zinsser cole engman syndrome 44
dkcx 44


External Ids:

MESH via Orphanet37 C536068
ICD10 via Orphanet27 D61.0
UMLS via Orphanet64 C1846142
OMIM48 305000

Related Diseases for Dyskeratosis Congenita X-Linked

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

305000

Clinical features from OMIM:

305000

Symptoms:

50 (show all 28)
  • clotting/hemostasis disorders
  • anaemia
  • hypertonia/spasticity/rigidity/stiffness
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • intracranial/cerebral calcifications
  • ataxia/incoordination/trouble of the equilibrium
  • areflexia/hyporeflexia
  • bone marrow failure/pancytopenia
  • white cell disorders
  • neoplasms/tumors
  • dilated cerebral ventricles without hydrocephaly
  • nails anomalies
  • decreased hair pigmentation/hypopigmentation of hair
  • purpura/petichiae
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • rippled skin
  • enanthema/aphtosa/aphta/leukoplakia
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • microcephaly

Drugs & Therapeutics for Dyskeratosis Congenita X-Linked

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Dyskeratosis Congenita X-Linked

Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita X-Linked

Search NIH Clinical Center for Dyskeratosis Congenita X-Linked

Search CenterWatch for Dyskeratosis Congenita X-Linked

Genetic Tests for Dyskeratosis Congenita X-Linked

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Sources:
23GTR
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Genetic tests related to Dyskeratosis Congenita X-Linked:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita X-Linked23

Anatomical Context for Dyskeratosis Congenita X-Linked

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Sources:
34MalaCards
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MalaCards organs/tissues related to Dyskeratosis Congenita X-Linked:

34
Skin, Bone, Bone marrow, Liver, Cerebellum

Animal Models for Dyskeratosis Congenita X-Linked or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Dyskeratosis Congenita X-Linked:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8TERT, TINF2, DKC1
2MP:00028738.1TERT, RTEL1, TINF2, DKC1
3MP:00053848.0TERT, RTEL1, TINF2, DKC1
4MP:00053787.9RTEL1, TERT, DKC1, TINF2
5MP:00107687.7DKC1, TERT, TINF2, RTEL1

Publications for Dyskeratosis Congenita X-Linked

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Variations for Dyskeratosis Congenita X-Linked

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita X-Linked:

65 (show all 23)
id Symbol AA change Variation ID SNP ID
1DKC1p.Phe36ValVAR_006811rs121912293
2DKC1p.Pro40ArgVAR_006813rs121912292
3DKC1p.Leu72TyrVAR_006814rs121912294
4DKC1p.Gly402GluVAR_006815rs121912295
5DKC1p.Ala353ValVAR_009264rs121912288
6DKC1p.Ala353ValVAR_009264rs121912288
7DKC1p.Ala2ValVAR_010076rs121912303
8DKC1p.Lys39GluVAR_010077rs121912296
9DKC1p.Glu41LysVAR_010078rs121912302
10DKC1p.Arg65ThrVAR_010079rs121912301
11DKC1p.Thr66AlaVAR_010080rs121912297
12DKC1p.Leu321ValVAR_010081rs2728726
13DKC1p.Met350IleVAR_010082rs121912298
14DKC1p.Met350ThrVAR_010083rs121912300
15DKC1p.Gly402ArgVAR_010084rs121912299
16DKC1p.Ile38ThrVAR_015674rs28936072
17DKC1p.Thr49MetVAR_015675rs121912304
18DKC1p.Ser121GlyVAR_015676rs121912305
19DKC1p.Leu56SerVAR_063821rs121912287
20DKC1p.Leu72PheVAR_063822rs121912306
21DKC1p.Leu317PheVAR_063823rs121912290
22DKC1p.Arg322GlnVAR_063824rs121912291
23DKC1p.Pro409LeuVAR_063825rs121912289

Clinvar genetic disease variations for Dyskeratosis Congenita X-Linked:

1 (show all 38)
id Gene Name 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_001363.4(DKC1): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs121912304GRCh37Chr X, 153993780: 153993780
8DKC1NM_001363.4(DKC1): c.361A> G (p.Ser121Gly)single nucleotide variantPathogenicrs121912305GRCh37Chr X, 153994588: 153994588
9DKC1NM_001363.4(DKC1): c.91C> A (p.Gln31Lys)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
10DKC1NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala)single nucleotide variantPathogenicrs137854492GRCh37Chr X, 154001438: 154001438
11DKC1NM_001363.4(DKC1): c.1049T> C (p.Met350Thr)single nucleotide variantPathogenicrs121912300GRCh37Chr X, 154001418: 154001418
12DKC1NM_001363.4(DKC1): c.1050G> A (p.Met350Ile)single nucleotide variantPathogenicrs121912298GRCh37Chr X, 154001419: 154001419
13DKC1NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn)single nucleotide variantPathogenicrs199422249GRCh37Chr X, 154001444: 154001444
14DKC1NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser)single nucleotide variantPathogenicrs199422250GRCh37Chr X, 154001519: 154001519
15DKC1NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicrs199422251GRCh37Chr X, 154001520: 154001520
16DKC1NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr)single nucleotide variantPathogenicrs199422252GRCh37Chr X, 154002877: 154002877
17DKC1NM_001363.4(DKC1): c.115A> G (p.Lys39Glu)single nucleotide variantPathogenicrs121912296GRCh37Chr X, 153993749: 153993749
18DKC1NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro)single nucleotide variantPathogenicrs199422253GRCh37Chr X, 154002914: 154002914
19DKC1NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg)single nucleotide variantPathogenicrs121912299GRCh37Chr X, 154002925: 154002925
20DKC1NM_001363.4(DKC1): c.121G> A (p.Glu41Lys)single nucleotide variantPathogenicrs121912302GRCh37Chr X, 153993755: 153993755
21DKC1NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile)single nucleotide variantPathogenicrs199422254GRCh37Chr X, 154002944: 154002944
22DKC1NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu)single nucleotide variantPathogenicrs121912289GRCh37Chr X, 154002947: 154002947
23DKC1NM_001363.4(DKC1): c.127A> G (p.Lys43Glu)single nucleotide variantPathogenicrs199422243GRCh37Chr X, 153993761: 153993761
24DKC1DKC1: c.-142C> Gsingle nucleotide variantPathogenicrs199422241GRCh37Chr X, 153991099: 153991099
25DKC1NM_001363.4(DKC1): c.194G> C (p.Arg65Thr)single nucleotide variantPathogenicrs121912301GRCh37Chr X, 153994204: 153994204
26DKC1NM_001363.4(DKC1): c.196A> G (p.Thr66Ala)single nucleotide variantPathogenicrs121912297GRCh37Chr X, 153994206: 153994206
27DKC1NM_001363.4(DKC1): c.200C> T (p.Thr67Ile)single nucleotide variantPathogenicrs199422244GRCh37Chr X, 153994210: 153994210
28DKC1NM_001363.4(DKC1): c.204C> A (p.His68Gln)single nucleotide variantPathogenicrs199422245GRCh37Chr X, 153994214: 153994214
29DKC1NM_001363.4(DKC1): c.29C> T (p.Pro10Leu)single nucleotide variantPathogenicrs199422242GRCh37Chr X, 153993186: 153993186
30DKC1NM_001363.4(DKC1): c.472C> T (p.Arg158Trp)single nucleotide variantPathogenic, Uncertain significancers199422246GRCh37Chr X, 153995295: 153995295
31DKC1NM_001363.4(DKC1): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs121912303GRCh37Chr X, 153991245: 153991245
32DKC1NM_001363.4(DKC1): c.838A> C (p.Ser280Arg)single nucleotide variantPathogenicrs146700772GRCh37Chr X, 153997508: 153997508
33DKC1NM_001363.4(DKC1): c.911G> A (p.Ser304Asn)single nucleotide variantPathogenicrs199422247GRCh37Chr X, 153997581: 153997581
34DKC1NM_001363.4(DKC1): c.91C> G (p.Gln31Glu)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
35DKC1NM_001363.4(DKC1): c.941A> G (p.Lys314Arg)single nucleotide variantPathogenicrs199422248GRCh37Chr X, 153999059: 153999059
36DKC1NM_001363.4(DKC1): c.949C> G (p.Leu317Val)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
37DKC1NM_001363.4(DKC1): c.949C> T (p.Leu317Phe)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
38DKC1NM_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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita X-Linked

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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Sources:
51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG, 13EMD Millipore
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Pathways related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4DKC1, TERT
2
Show member pathways
9.3TINF2, TERT
3
Show member pathways
8.8TERT, TINF2, DKC1
4
Show member pathways
8.8DKC1, TINF2, TERT
5
Show member pathways
8.8DKC1, TINF2, TERT
68.8DKC1, TINF2, TERT

Compounds for genes affiliated with Dyskeratosis Congenita X-Linked

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46Novoseek
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Compounds related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adpribose469.3TINF2, TERT
2tin(2+)469.0TINF2, TERT

GO Terms for genes affiliated with Dyskeratosis Congenita X-Linked

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17Gene Ontology
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Cellular components related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomerase holoenzyme complexGO:0056979.4DKC1, TERT
2nuclear telomere cap complexGO:0007839.2TINF2, TERT
3chromosome, telomeric regionGO:0007819.0TINF2, TERT
4nucleoplasmGO:0056548.8DKC1, TINF2, TERT

Biological processes related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere maintenance via telomeraseGO:0070049.4DKC1, TERT
2telomere maintenanceGO:0007237.7DKC1, TINF2, RTEL1, TERT

Molecular functions related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomerase activityGO:0037209.3DKC1, TERT
2telomeric DNA bindingGO:0421629.0TINF2, TERT
3protein bindingGO:0055158.0DKC1, TINF2, RTEL1, TERT

Products for genes affiliated with Dyskeratosis Congenita X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet