DKCX
MCID: DYS041
MIFTS: 48

Dyskeratosis Congenita X-Linked (DKCX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Blood diseases, Immune diseases categories
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Summaries for Dyskeratosis Congenita X-Linked

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MalaCards based summary: Dyskeratosis Congenita X-Linked, also known as x-linked dyskeratosis congenita, is related to dyskeratosis congenita and pneumonia, and has symptoms including microcephaly, purpura/petichiae and cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia. 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 marrow and bone, and related mouse phenotypes are reproductive system and normal.

Description from OMIM:46 305000

Aliases & Classifications for Dyskeratosis Congenita X-Linked

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Dyskeratosis Congenita X-Linked, Aliases & Descriptions:

Name: Dyskeratosis Congenita X-Linked 42
X-Linked Dyskeratosis Congenita 42 22 62
Hoyeraal-Hreidarsson Syndrome 48 62
Progressive Pancytopenia - Immunodeficiency - Cerebellar Hypoplasia 48
 
Dyskeratosis Congenita, X-Linked 46
Zinsser Cole Engman Syndrome 42
Zinsser-Cole-Engman Syndrome 62
Dkcx 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hoyeraal-hreidarsson syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

OMIM46 305000
MESH via Orphanet35 C536068
ICD10 via Orphanet26 D61.0
UMLS via Orphanet63 C1846142

Related Diseases for Dyskeratosis Congenita X-Linked

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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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Symptoms by clinical synopsis from OMIM:

305000

Clinical features from OMIM:

305000

Symptoms:

48 (show all 28)
  • microcephaly
  • 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
  • decreased hair pigmentation/hypopigmentation of hair
  • nails anomalies
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hypertonia/spasticity/rigidity/stiffness
  • anaemia
  • clotting/hemostasis disorders
  • intracranial/cerebral calcifications
  • ataxia/incoordination/trouble of the equilibrium
  • areflexia/hyporeflexia
  • bone marrow failure/pancytopenia
  • white cell disorders
  • neoplasms/tumors

HPO human phenotypes related to Dyskeratosis Congenita X-Linked:

(show all 73)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 intrauterine growth retardation hallmark (90%) HP:0001511
3 thrombocytopenia hallmark (90%) HP:0001873
4 subcutaneous hemorrhage hallmark (90%) HP:0001933
5 short stature hallmark (90%) HP:0004322
6 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
7 abnormality of immune system physiology hallmark (90%) HP:0010978
8 cognitive impairment hallmark (90%) HP:0100543
9 abnormality of the oral cavity typical (50%) HP:0000163
10 hypertonia typical (50%) HP:0001276
11 abnormality of the nail typical (50%) HP:0001597
12 anemia typical (50%) HP:0001903
13 abnormality of coagulation typical (50%) HP:0001928
14 ventriculomegaly typical (50%) HP:0002119
15 cerebral cortical atrophy typical (50%) HP:0002120
16 hypopigmentation of hair typical (50%) HP:0005599
17 generalized hyperpigmentation typical (50%) HP:0007440
18 abnormal hair quantity typical (50%) HP:0011362
19 global developmental delay 25% HP:0001263
20 reduced tendon reflexes occasional (7.5%) HP:0001315
21 abnormality of leukocytes occasional (7.5%) HP:0001881
22 incoordination occasional (7.5%) HP:0002311
23 cerebral calcification occasional (7.5%) HP:0002514
24 neoplasm occasional (7.5%) HP:0002664
25 bone marrow hypocellularity occasional (7.5%) HP:0005528
26 ataxia rare (5%) HP:0001251
27 cerebellar hypoplasia rare (5%) HP:0001321
28 cryptorchidism HP:0000028
29 hypospadias HP:0000047
30 horseshoe kidney HP:0000085
31 microcephaly HP:0000252
32 strabismus HP:0000486
33 blepharitis HP:0000498
34 conjunctivitis HP:0000509
35 cataract HP:0000518
36 optic atrophy HP:0000648
37 sparse eyelashes HP:0000653
38 carious teeth HP:0000670
39 osteoporosis HP:0000939
40 hyperpigmentation of the skin HP:0000953
41 hyperhidrosis HP:0000975
42 intellectual disability HP:0001249
43 cirrhosis HP:0001394
44 x-linked recessive inheritance HP:0001419
45 alopecia HP:0001596
46 phimosis HP:0001741
47 ridged nail HP:0001807
48 split nail HP:0001809
49 thrombocytopenia HP:0001873
50 pancytopenia HP:0001876
51 leukopenia HP:0001882
52 anemia HP:0001903
53 esophageal stricture HP:0002043
54 restrictive lung disease HP:0002091
55 pterygium formation (nails) HP:0002165
56 pulmonary fibrosis HP:0002206
57 premature graying of hair HP:0002216
58 immunodeficiency HP:0002721
59 oral leukoplakia HP:0002745
60 squamous cell carcinoma HP:0002860
61 myelodysplasia HP:0002863
62 short stature HP:0004322
63 dermal atrophy HP:0004334
64 acute myeloid leukemia HP:0004808
65 anal mucosal leukoplakia HP:0005212
66 bone marrow hypocellularity HP:0005528
67 premature loss of teeth HP:0006480
68 reticulated skin pigmentation HP:0007427
69 nail dystrophy HP:0008404
70 urethral stenosis HP:0008661
71 decreased testicular size HP:0008734
72 increased lacrimation HP:0009926
73 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:

32
Skin, Bone marrow, Bone, Liver, Cerebellum

Animal Models for Dyskeratosis Congenita X-Linked or affiliated genes

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MGI Mouse Phenotypes related to Dyskeratosis Congenita X-Linked:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.8DKC1, TINF2, TERT
2MP:00028738.1DKC1, TINF2, RTEL1, TERT
3MP:00053848.0TERT, RTEL1, TINF2, DKC1
4MP:00053787.9TERT, RTEL1, TINF2, DKC1
5MP:00107687.7DKC1, TINF2, RTEL1, TERT

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:

64 (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:

6 (show all 42)
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_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.91C> A (p.Gln31Lys)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
13DKC1NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala)single nucleotide variantPathogenicrs137854492GRCh37Chr X, 154001438: 154001438
14DKC1DKC1, IVS12DS, G-A, +1single nucleotide variantPathogenic
15DKC1NM_001363.4(DKC1): c.1049T> C (p.Met350Thr)single nucleotide variantPathogenicrs121912300GRCh37Chr X, 154001418: 154001418
16DKC1NM_001363.4(DKC1): c.1050G> A (p.Met350Ile)single nucleotide variantPathogenicrs121912298GRCh37Chr X, 154001419: 154001419
17DKC1NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn)single nucleotide variantPathogenicrs199422249GRCh37Chr X, 154001444: 154001444
18DKC1NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser)single nucleotide variantPathogenicrs199422250GRCh37Chr X, 154001519: 154001519
19DKC1NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicrs199422251GRCh37Chr X, 154001520: 154001520
20DKC1NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr)single nucleotide variantPathogenicrs199422252GRCh37Chr X, 154002877: 154002877
21DKC1NM_001363.4(DKC1): c.115A> G (p.Lys39Glu)single nucleotide variantPathogenicrs121912296GRCh37Chr X, 153993749: 153993749
22DKC1NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro)single nucleotide variantPathogenicrs199422253GRCh37Chr X, 154002914: 154002914
23DKC1NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg)single nucleotide variantPathogenicrs121912299GRCh37Chr X, 154002925: 154002925
24DKC1NM_001363.4(DKC1): c.121G> A (p.Glu41Lys)single nucleotide variantPathogenicrs121912302GRCh37Chr X, 153993755: 153993755
25DKC1NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile)single nucleotide variantPathogenicrs199422254GRCh37Chr X, 154002944: 154002944
26DKC1NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu)single nucleotide variantPathogenicrs121912289GRCh37Chr X, 154002947: 154002947
27DKC1NM_001363.4(DKC1): c.127A> G (p.Lys43Glu)single nucleotide variantPathogenicrs199422243GRCh37Chr X, 153993761: 153993761
28DKC1DKC1: c.-142C> Gsingle nucleotide variantPathogenicrs199422241GRCh37Chr X, 153991099: 153991099
29DKC1NM_001363.4(DKC1): c.194G> C (p.Arg65Thr)single nucleotide variantPathogenicrs121912301GRCh37Chr X, 153994204: 153994204
30DKC1NM_001363.4(DKC1): c.196A> G (p.Thr66Ala)single nucleotide variantPathogenicrs121912297GRCh37Chr X, 153994206: 153994206
31DKC1NM_001363.4(DKC1): c.200C> T (p.Thr67Ile)single nucleotide variantPathogenicrs199422244GRCh37Chr X, 153994210: 153994210
32DKC1NM_001363.4(DKC1): c.204C> A (p.His68Gln)single nucleotide variantPathogenicrs199422245GRCh37Chr X, 153994214: 153994214
33DKC1NM_001363.4(DKC1): c.29C> T (p.Pro10Leu)single nucleotide variantPathogenicrs199422242GRCh37Chr X, 153993186: 153993186
34DKC1NM_001363.4(DKC1): c.472C> T (p.Arg158Trp)single nucleotide variantPathogenicrs199422246GRCh37Chr X, 153995295: 153995295
35DKC1NM_001363.4(DKC1): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs121912303GRCh37Chr X, 153991245: 153991245
36DKC1NM_001363.4(DKC1): c.838A> C (p.Ser280Arg)single nucleotide variantPathogenicrs146700772GRCh37Chr X, 153997508: 153997508
37DKC1NM_001363.4(DKC1): c.911G> A (p.Ser304Asn)single nucleotide variantPathogenicrs199422247GRCh37Chr X, 153997581: 153997581
38DKC1NM_001363.4(DKC1): c.91C> G (p.Gln31Glu)single nucleotide variantPathogenicrs137854491GRCh37Chr X, 153993725: 153993725
39DKC1NM_001363.4(DKC1): c.941A> G (p.Lys314Arg)single nucleotide variantPathogenicrs199422248GRCh37Chr X, 153999059: 153999059
40DKC1NM_001363.4(DKC1): c.949C> G (p.Leu317Val)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
41DKC1NM_001363.4(DKC1): c.949C> T (p.Leu317Phe)single nucleotide variantPathogenicrs121912290GRCh37Chr X, 153999067: 153999067
42DKC1NM_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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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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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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Sources:
44Novoseek
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Compounds related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adpribose449.3TINF2, TERT
2tin(2+)449.0TINF2, TERT

GO Terms for genes affiliated with Dyskeratosis Congenita X-Linked

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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

Sources for Dyskeratosis Congenita X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet