MCID: DYS040
MIFTS: 22

Dyskeratosis Congenita Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Immune diseases

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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Aliases & Descriptions for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 46
Dyskeratosis Congenita, Autosomal Recessive 66
 
Autosomal Recessive Dyskeratosis Congenita 46
Dkcb 46

Classifications:



Summaries for Dyskeratosis Congenita Autosomal Recessive

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MalaCards based summary: Dyskeratosis Congenita Autosomal Recessive, also known as dyskeratosis congenita, autosomal recessive, is related to dyskeratosis congenita, autosomal recessive 2 and dyskeratosis congenita, autosomal recessive 1. An important gene associated with Dyskeratosis Congenita Autosomal Recessive is RTEL1 (Regulator Of Telomere Elongation Helicase 1), and among its related pathways are Regulation of Telomerase and Ribosome biogenesis in eukaryotes.

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

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Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Dominant 2
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita Autosomal Dominant
dyskeratosis congenita autosomal recessive Rtel1-Related Dyskeratosis Congenita
Acd-Related Dyskeratosis Congenita Dkc1-Related Dyskeratosis Congenita
Nhp2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Terc-Related Dyskeratosis Congenita Tert-Related Dyskeratosis Congenita
Tinf2-Related Dyskeratosis Congenita Wrap53-Related Dyskeratosis Congenita

Diseases related to Dyskeratosis Congenita Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita, autosomal recessive 212.4
2dyskeratosis congenita, autosomal recessive 112.4
3dyskeratosis congenita, autosomal recessive 312.4
4dyskeratosis congenita, autosomal recessive 512.4
5dyskeratosis congenita, autosomal recessive 612.4
6dyskeratosis congenita, autosomal dominant 211.7
7dyskeratosis congenita, autosomal dominant 611.3
8rtel1-related dyskeratosis congenita11.2
9acd-related dyskeratosis congenita11.2
10dyskeratosis congenita10.2
11hoyeraal hreidarsson syndrome10.1
12dubin-johnson syndrome9.8ACD, TERT
13convulsions benign familial neonatal dominant form9.6ACD, RTEL1, TERT
14cerebellum agenesis hydrocephaly9.6ACD, RTEL1, TERT
15levic stefanovic nikolic syndrome9.5ACD, RTEL1, TERT
16renal oncocytoma9.5PARN, RTEL1, TERT
17hermansky-pudlak syndrome 99.3NHP2, NOP10, TERT
18diamond-blackfan anemia 39.3PARN, RTEL1, TERT
19hypocalciuric hypercalcemia, type i8.8NHP2, NOP10, RTEL1, TERT
20recessive dystrophic epidermolysis bullosa-generalized other7.4ACD, NHP2, NOP10, PARN, RTEL1, TERT
21vesiculobullous skin disease7.4ACD, NHP2, NOP10, PARN, RTEL1, TERT

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Symptoms for Dyskeratosis Congenita Autosomal Recessive

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

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Animal Models for Dyskeratosis Congenita Autosomal Recessive or affiliated genes

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Publications for Dyskeratosis Congenita Autosomal Recessive

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Variations for Dyskeratosis Congenita Autosomal Recessive

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Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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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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Pathways related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4ACD, TERT
29.1NHP2, NOP10
3
Show member pathways
9.1NHP2, TERT, WRAP53
4
Show member pathways
8.5ACD, NHP2, TERT, WRAP53
5
Show member pathways
8.5ACD, NHP2, TERT, WRAP53

GO Terms for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Cellular components related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear telomere cap complexGO:000078310.1ACD, TERT
2small nucleolar ribonucleoprotein complexGO:00057329.9NHP2, NOP10
3box H/ACA snoRNP complexGO:00314299.6NHP2, NOP10
4box H/ACA scaRNP complexGO:00725899.6NHP2, NOP10
5box H/ACA telomerase RNP complexGO:00906619.6NHP2, NOP10
6nuclear chromosome, telomeric regionGO:00007849.3ACD, NHP2, TERT
7telomerase holoenzyme complexGO:00056978.7NHP2, NOP10, TERT, WRAP53
8nucleoplasmGO:00056547.7ACD, NHP2, NOP10, RTEL1, TERT

Biological processes related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1establishment of protein localization to telomereGO:00702009.4ACD, TERT, WRAP53
2positive regulation of telomerase activityGO:00519739.3ACD, WRAP53
3positive regulation of telomerase RNA localization to Cajal bodyGO:19048749.2NHP2, NOP10
4rRNA pseudouridine synthesisGO:00311189.2NHP2, NOP10
5positive regulation of telomere maintenance via telomeraseGO:00322129.1ACD, WRAP53
6telomere maintenanceGO:00007239.1ACD, RTEL1, TERT
7telomere maintenance via telomeraseGO:00070047.6ACD, NHP2, NOP10, TERT, WRAP53

Molecular functions related to Dyskeratosis Congenita Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1telomeric DNA bindingGO:00421629.3ACD, TERT
2box H/ACA snoRNA bindingGO:00345138.8NHP2, NOP10
3telomerase RNA bindingGO:00700348.3NHP2, NOP10, TERT, WRAP53

Sources for Dyskeratosis Congenita Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet