MCID: INT222
MIFTS: 10

Intermediate Dend Syndrome malady

Neuronal diseases, Endocrine diseases, Rare diseases categories

Aliases & Classifications for Intermediate Dend Syndrome

About this section

Aliases & Descriptions for Intermediate Dend Syndrome:

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


Classifications:



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


External Ids:

Orphanet51 99989

Summaries for Intermediate Dend Syndrome

About this section
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 Channel, Inwardly Rectifying Subfamily J, Member 11). Affiliated tissues include testes.

Related Diseases for Intermediate Dend Syndrome

About this section

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

About this section

Drugs & Therapeutics for Intermediate Dend Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Intermediate Dend Syndrome

Genetic Tests for Intermediate Dend Syndrome

About this section

Anatomical Context for Intermediate Dend Syndrome

About this section

MalaCards organs/tissues related to Intermediate Dend Syndrome:

33
Testes

Animal Models for Intermediate Dend Syndrome or affiliated genes

About this section

Publications for Intermediate Dend Syndrome

About this section

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

About this section

Expression for genes affiliated with Intermediate Dend Syndrome

About this section
Search GEO for disease gene expression data for Intermediate Dend Syndrome.

Pathways for genes affiliated with Intermediate Dend Syndrome

About this section

GO Terms for genes affiliated with Intermediate Dend Syndrome

About this section

Sources for Intermediate Dend Syndrome

About this section
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