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 54
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 54

Characteristics:

Orphanet epidemiological data:

54
developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 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 mellitus9.9

Symptoms & Phenotypes 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:

36
Testes

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet