MCID: INT222

Intermediate Dend Syndrome malady

Categories: Neuronal diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Intermediate Dend Syndrome

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Aliases & Descriptions for Intermediate Dend Syndrome:

Name: Intermediate Dend Syndrome 51
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 51

Characteristics:

Orphanet epidemiological data:

51
developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 99989

Summaries for Intermediate Dend Syndrome

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MalaCards based summary: Intermediate Dend Syndrome, also known as developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form, is related to breast cancer and paraquat poisoning. An important gene associated with Intermediate Dend Syndrome is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11).

Related Diseases for Intermediate Dend Syndrome

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Diseases in the Dend Syndrome family:

intermediate dend syndrome

Diseases related to Intermediate Dend Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1breast cancer10.3
2paraquat poisoning10.3

Symptoms for Intermediate Dend Syndrome

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Drugs & Therapeutics for Intermediate Dend Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Intermediate Dend Syndrome

Genetic Tests for Intermediate Dend Syndrome

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Anatomical Context for Intermediate Dend Syndrome

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Animal Models for Intermediate Dend Syndrome or affiliated genes

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Publications for Intermediate Dend Syndrome

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Articles related to Intermediate Dend Syndrome:

idTitleAuthorsYear
1
Resonance assignments of the human AKAP13-PH domain and stabilizing DH helix. (19888694)
2009
2
Epilepsy syndrome, focus location, and treatment choice affect testicular function in men with epilepsy. (14745061)
2004
3
sgk: an essential convergence point for peptide and steroid hormone regulation of ENaC-mediated Na+ transport. (11832334)
2002

Variations for Intermediate Dend Syndrome

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Expression for genes affiliated with Intermediate Dend Syndrome

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Search GEO for disease gene expression data for Intermediate Dend Syndrome.

Pathways for genes affiliated with Intermediate Dend Syndrome

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GO Terms for genes affiliated with Intermediate Dend Syndrome

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Sources for Intermediate Dend Syndrome

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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