MCID: INT222
MIFTS: 10

Intermediate Dend Syndrome malady

Neuronal diseases, Endocrine diseases, Rare diseases categories

Aliases & Classifications for Intermediate Dend Syndrome

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Aliases & Descriptions for Intermediate Dend Syndrome:

Name: Intermediate Dend Syndrome 48
 
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

Orphanet48 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 dend syndrome and neonatal diabetes mellitus. An important gene associated with Intermediate Dend Syndrome is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11). Affiliated tissues include testes.

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
1dend syndrome10.5
2neonatal diabetes mellitus10.3

Symptoms for Intermediate Dend Syndrome

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Drugs & Therapeutics for Intermediate Dend Syndrome

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Drug clinical trials:

Search ClinicalTrials for Intermediate Dend Syndrome

Search 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:

31
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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Compounds 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
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