MCID: DYS040
MIFTS: 23

Dyskeratosis Congenita Autosomal Recessive malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories

Aliases & Classifications for Dyskeratosis Congenita Autosomal Recessive

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Aliases & Descriptions for Dyskeratosis Congenita Autosomal Recessive:

Name: Dyskeratosis Congenita Autosomal Recessive 42
Autosomal Recessive Dyskeratosis Congenita 42 22
Dyskeratosis Congenita 42 61
Dyskeratosis Congenita, Autosomal Recessive 61
 
Zinsser-Engman-Cole Syndrome 42
Dkcb 42
Dkc 42
Dc 42


Classifications:



Summaries for Dyskeratosis Congenita Autosomal Recessive

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MalaCards based summary: Dyskeratosis Congenita Autosomal Recessive, also known as autosomal recessive dyskeratosis congenita, is related to dyskeratosis congenita and dyskeratosis congenita, autosomal recessive 2. 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.

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 Recessive 4
Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita Autosomal Dominant
dyskeratosis congenita autosomal recessive Tert-Related Dyskeratosis Congenita
Dkc1-Related Dyskeratosis Congenita Terc-Related Dyskeratosis Congenita
Tinf2-Related Dyskeratosis Congenita Nop10-Related Dyskeratosis Congenita
Nhp2-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 top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1dyskeratosis congenita30.5NOP10, NHP2
2dyskeratosis congenita, autosomal recessive 210.7
3dyskeratosis congenita, autosomal recessive 310.7
4aplastic anemia10.7
5dyskeratosis congenita, autosomal recessive 110.6
6dyskeratosis congenita, autosomal recessive 510.6
7dyskeratosis congenita, autosomal dominant 310.6
8hematopoietic stem cell transplantation10.6
9pancytopenia10.6
10dyskeratosis congenita autosomal dominant10.6
11dyskeratosis congenita, autosomal recessive 410.5
12retinitis10.5
13thymic dysplasia10.5
14neutropenia10.4
15pulmonary fibrosis10.4
16pneumonia10.4
17leukoplakia10.4
18dyskeratosis congenita, autosomal dominant 110.4
19revesz syndrome10.4
20portal hypertension10.4
21tert-related dyskeratosis congenita10.4
22dkc1-related dyskeratosis congenita10.4
23terc-related dyskeratosis congenita10.4
24tinf2-related dyskeratosis congenita10.4
25nop10-related dyskeratosis congenita10.4
26nhp2-related dyskeratosis congenita10.4
27wrap53-related dyskeratosis congenita10.4
28myelodysplastic syndrome10.3
29hepatitis10.3
30limbal stem cell deficiency10.3
31thrombocytopenia10.3
32esophagitis10.3
33interstitial lung disease10.3
34chronic graft versus host disease10.3
35inherited bone marrow failure syndromes10.3
36schizophrenia10.1
37huntington disease10.1
38rothmund-thomson syndrome10.1
39poikiloderma with neutropenia10.1
40cerebroretinal microangiopathy with calcifications and cysts10.1
41epidermodysplasia verruciformis10.1
42kindler syndrome10.1
43bone marrow failure, telomere-related, 110.1
44bronchiolitis obliterans10.1
45cataract10.1
46cervical squamous cell carcinoma10.1
47common variable immunodeficiency10.1
48ectodermal dysplasia10.1
49hemolytic anemia10.1
50leukemia10.1

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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Drug clinical trials:

Search ClinicalTrials for Dyskeratosis Congenita Autosomal Recessive

Search NIH Clinical Center for Dyskeratosis Congenita Autosomal Recessive

Genetic Tests for Dyskeratosis Congenita Autosomal Recessive

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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

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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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Clinvar genetic disease variations for Dyskeratosis Congenita Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOP10NM_018648.3(NOP10): c.100C> T (p.Arg34Trp)single nucleotide variantPathogenicrs121908092GRCh37Chr 15, 34634264: 34634264
2NHP2NM_017838.3(NHP2): c.415T> C (p.Tyr139His)single nucleotide variantPathogenicrs121908089GRCh37Chr 5, 177576761: 177576761
3NHP2NM_017838.3(NHP2): c.376G> A (p.Val126Met)single nucleotide variantPathogenicrs121908090GRCh37Chr 5, 177576800: 177576800
4NHP2NM_017838.3(NHP2): c.460T> A (p.Ter154Arg)single nucleotide variantPathogenicrs121908091GRCh37Chr 5, 177576716: 177576716

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 pathways (with members indented)ScoreTop Affiliating Genes
19.1NOP10, NHP2

Compounds for genes affiliated with Dyskeratosis Congenita Autosomal Recessive

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Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1pseudouridine44 2410.1NOP10, NHP2

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
1Cajal bodyGO:00150309.1NOP10, NHP2
2small nucleolar ribonucleoprotein complexGO:00057328.8NOP10, NHP2

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

idNameGO IDScoreTop Affiliating Genes
1snoRNA bindingGO:00305159.1NOP10, NHP2

Sources for Dyskeratosis Congenita Autosomal Recessive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet