DKCX
MCID: DYS041
MIFTS: 39

Dyskeratosis Congenita X-Linked (DKCX) malady

Neuronal, Fetal, Blood, Immune categories

Summaries for Dyskeratosis Congenita X-Linked

Sources:
47OMIM, 33MalaCards
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MalaCards: Dyskeratosis Congenita X-Linked, also known as x-linked dyskeratosis congenita, is related to cerebellar hypoplasia and dyskeratosis congenita, 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 Extension By Telomerase and Lagging Strand Synthesis. The compounds adpribose and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and skin, and related mouse phenotype mortality/aging.

Description from OMIM:47 305000

Aliases & Classifications for Dyskeratosis Congenita X-Linked

Sources:
49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
hoyeraal-hreidarsson syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

dyskeratosis congenita x-linked 43
x-linked dyskeratosis congenita 43 22 61
hoyeraal-hreidarsson syndrome 49 61
progressive pancytopenia - immunodeficiency - cerebellar hypoplasia 49
dyskeratosis congenita, x-linked 47
zinsser cole engman syndrome 43
dkcx 43


External Ids:

MESH via Orphanet36 C536068
ICD10 via Orphanet26 D61.0
UMLS via Orphanet62 C1846142
OMIM47 305000

Related Diseases for Dyskeratosis Congenita X-Linked

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dyskeratosis Congenita X-Linked:



Diseases related to dyskeratosis congenita x-linked

Clinical Features for Dyskeratosis Congenita X-Linked

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

305000

Clinical synopsis from OMIM:

305000

Symptoms:

49 (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

Drugs & Therapeutics for Dyskeratosis Congenita X-Linked

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Dyskeratosis Congenita X-Linked:

33
Bone marrow, Liver, Skin

Animal Models for Dyskeratosis Congenita X-Linked or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dyskeratosis Congenita X-Linked:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.0TERT, RTEL1, DKC1, TINF2

Publications for Dyskeratosis Congenita X-Linked

Sources:
51PubMed
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Articles related to Dyskeratosis Congenita X-Linked:

idTitleAuthorsYear
1
Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. (8178832)
1994

Genetic Variations for Dyskeratosis Congenita X-Linked

Sources:
63UniProtKB/Swiss-Prot
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Expression for genes affiliated with Dyskeratosis Congenita X-Linked

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TERT, DKC1
2
Hide members
9.3TERT, DKC1
39.3TERT, TINF2
4
Hide members
8.8TERT, DKC1, TINF2
58.8TINF2, DKC1, TERT
6
Hide members
8.8TINF2, DKC1, TERT
78.8TERT, DKC1, TINF2
8
Hide members
8.8TERT, DKC1, TINF2

Compounds for genes affiliated with Dyskeratosis Congenita X-Linked

Sources:
45Novoseek
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Compounds related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adpribose459.3TERT, TINF2
2tin(2+)459.0TERT, TINF2

GO Terms for genes affiliated with Dyskeratosis Congenita X-Linked

Sources:
16Gene Ontology
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Cellular components related to Dyskeratosis Congenita X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomerase holoenzyme complexGO:0056979.3TERT, DKC1
2nuclear telomere cap complexGO:0007839.2TERT, TINF2
3chromosome, telomeric regionGO:0007819.0TERT, TINF2
4nucleoplasmGO:0056548.8TERT, DKC1, TINF2

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

idNameGO IDScoreTop Affiliating Genes
1telomere maintenance via telomeraseGO:0070049.3TERT, DKC1
2telomere maintenanceGO:0007237.7TERT, RTEL1, DKC1, TINF2

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

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:0421629.3TERT, TINF2
2telomerase activityGO:0037209.0TERT, DKC1

Products for genes affiliated with Dyskeratosis Congenita X-Linked

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita X-Linked

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet