MCID: INT222
MIFTS: 8

Intermediate Dend Syndrome malady

Categories: Neuronal diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Intermediate Dend Syndrome

Aliases & Descriptions for Intermediate Dend Syndrome:

Name: Intermediate Dend Syndrome 56
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 56

Characteristics:

Orphanet epidemiological data:

56
intermediate dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA99989

Summaries for Intermediate Dend Syndrome

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

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

id Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 9.9

Symptoms & Phenotypes for Intermediate Dend Syndrome

Drugs & Therapeutics for Intermediate Dend Syndrome

Search Clinical Trials , NIH Clinical Center for Intermediate Dend Syndrome

Genetic Tests for Intermediate Dend Syndrome

Anatomical Context for Intermediate Dend Syndrome

MalaCards organs/tissues related to Intermediate Dend Syndrome:

39
Testes

Publications for Intermediate Dend Syndrome

Articles related to Intermediate Dend Syndrome:

id Title Authors Year
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

Expression for Intermediate Dend Syndrome

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

Pathways for Intermediate Dend Syndrome

GO Terms for Intermediate Dend Syndrome

Sources for Intermediate Dend Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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