DKCB
MCID: DYS040
MIFTS: 20

Dyskeratosis Congenita Autosomal Recessive (DKCB) malady

Summaries for Dyskeratosis Congenita Autosomal Recessive

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33MalaCards
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MalaCards: Dyskeratosis Congenita Autosomal Recessive, also known as autosomal recessive dyskeratosis congenita, is related to dyskeratosis congenita and dyskeratosis congenita, autosomal recessive 4. An important gene associated with Dyskeratosis Congenita Autosomal Recessive is NOP10 (NOP10 ribonucleoprotein), and among its related pathways is Ribosome biogenesis in eukaryotes. The compound pseudouridine have been mentioned in the context of this disorder.

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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43NIH Rare Diseases, 22GTR
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Aliases & Descriptions:

dyskeratosis congenita autosomal recessive 43
autosomal recessive dyskeratosis congenita 43 22
dkcb 43


Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Clinical Features for Dyskeratosis Congenita Autosomal Recessive

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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

Search CenterWatch for Dyskeratosis Congenita Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Recessive

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Search CenterWatch for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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22GTR
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Genetic tests related to Dyskeratosis Congenita Autosomal Recessive:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita Autosomal Recessive22

Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

Animal Models for Dyskeratosis Congenita Autosomal Recessive or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Dyskeratosis Congenita Autosomal Recessive

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51PubMed
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Articles related to Dyskeratosis Congenita Autosomal Recessive:

idTitleAuthorsYear
1
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)
2007
2
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (17507419)
2007
3
Dyskeratosis congenita: an autosomal recessive variant. (10096592)
1999
4
Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita. (3500870)
1987

Genetic Variations for Dyskeratosis Congenita Autosomal Recessive

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Recessive.

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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30KEGG
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Pathways related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NHP2, NOP10

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

Sources:
45Novoseek, 24HMDB
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Compounds related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pseudouridine45 2410.3NHP2, NOP10

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

Sources:
16Gene Ontology
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Cellular components related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small nucleolar ribonucleoprotein complexGO:0057329.0NHP2, NOP10
2telomerase holoenzyme complexGO:0056979.0TERT, WRAP53
3Cajal bodyGO:0150308.5WRAP53, NOP10, NHP2
4nucleolusGO:0057308.0NOP10, TERT, NHP2, WRAP53

Biological processes related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1telomere formation via telomeraseGO:0322039.1TERT, WRAP53

Molecular functions related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1snoRNA bindingGO:0305159.3NHP2, NOP10

Products for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dyskeratosis Congenita Autosomal Recessive

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