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 52
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 52

Characteristics:

Orphanet epidemiological data:

52
developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA99989

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 neonatal diabetes mellitus. An important gene associated with Intermediate Dend Syndrome is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11). Affiliated tissues include testes.

Related Diseases for Intermediate Dend Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus10.0

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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MalaCards organs/tissues related to Intermediate Dend Syndrome:

34
Testes

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
AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child. (22145471)
2011
2
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. (19686306)
2010
3
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. (17982434)
2007

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
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