MCID: INT222
MIFTS: 9

Intermediate Dend Syndrome

Categories: Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intermediate Dend Syndrome

MalaCards integrated aliases for Intermediate Dend Syndrome:

Name: Intermediate Dend Syndrome 58
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 58

Characteristics:

Orphanet epidemiological data:

58
intermediate dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


External Ids:

Orphanet 58 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 permanent neonatal diabetes mellitus and neonatal diabetes. An important gene associated with Intermediate Dend Syndrome is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11).

Related Diseases for Intermediate Dend Syndrome

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

# Related Disease Score Top Affiliating Genes
1 permanent neonatal diabetes mellitus 11.2
2 neonatal diabetes 10.3
3 neonatal dermatomyositis 10.1

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

Publications for Intermediate Dend Syndrome

Articles related to Intermediate Dend Syndrome:

# Title Authors PMID Year
1
Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation. 61
27849623 2016
2
Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia. 61
23783767 2014
3
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. 61
22768671 2012
4
AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child. 61
22145471 2011
5
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. 61
19686306 2010
6
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. 61
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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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