MCID: DYS040
MIFTS: 25

Dyskeratosis Congenita Autosomal Recessive malady

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

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

About this section

Aliases & Descriptions for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 45
Dyskeratosis Congenita, Autosomal Recessive 65
 
Autosomal Recessive Dyskeratosis Congenita 45
Dkcb 45

Classifications:



External Ids:

UMLS65 C3502105

Summaries for Dyskeratosis Congenita Autosomal Recessive

About this section
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. Affiliated tissues include eye and skin.

Related Diseases for Dyskeratosis Congenita Autosomal Recessive

About this section

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 18)
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 211.8
7dyskeratosis congenita, autosomal dominant 611.3
8rtel1-related dyskeratosis congenita11.1
9acd-related dyskeratosis congenita11.1
10dyskeratosis congenita10.2
11dubin-johnson syndrome9.8ACD, TERT
12dyskeratosis congenita autosomal recessive9.5ACD, RTEL1, TERT
13pulmonary sarcoidosis9.5PARN, RTEL1, TERT
14diamond-blackfan anemia 39.3PARN, RTEL1, TERT
15hermansky-pudlak syndrome 99.3NHP2, NOP10, TERT
16hypocalciuric hypercalcemia, type i8.8NHP2, NOP10, RTEL1, TERT
17dysmorphism abnormal vocalization mental retardation7.4ACD, NHP2, NOP10, PARN, RTEL1, TERT
18epidermolysis bullosa7.4ACD, NHP2, NOP10, PARN, RTEL1, TERT

Graphical network of diseases related to Dyskeratosis Congenita Autosomal Recessive:



Diseases related to dyskeratosis congenita autosomal recessive

Symptoms for Dyskeratosis Congenita Autosomal Recessive

About this section

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Recessive

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

About this section

Anatomical Context for Dyskeratosis Congenita Autosomal Recessive

About this section

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Recessive:

33
Eye, Skin

Animal Models for Dyskeratosis Congenita Autosomal Recessive or affiliated genes

About this section

Publications for Dyskeratosis Congenita Autosomal Recessive

About this section

Variations for Dyskeratosis Congenita Autosomal Recessive

About this section

Expression for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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

Pathways for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1box H/ACA scaRNP complexGO:00725899.1NHP2, NOP10
2box H/ACA snoRNP complexGO:00314298.8NHP2, NOP10

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

idNameGO IDScoreTop Affiliating Genes
1telomere maintenanceGO:00007239.7RTEL1, TERT
2establishment of protein localization to telomereGO:00702009.3TERT, WRAP53
3positive regulation of telomere maintenance via telomeraseGO:00322129.3ACD, WRAP53
4positive regulation of telomerase RNA localization to Cajal bodyGO:19048749.1NHP2, NOP10

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

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:00037239.1PARN, TERT, WRAP53

Sources for Dyskeratosis Congenita Autosomal Recessive

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet