MCID: INT222
MIFTS: 10

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 60
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 60

Characteristics:

Orphanet epidemiological data:

60
intermediate dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 60 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 diabetes mellitus and 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:

# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 10.1
2 neonatal diabetes mellitus 10.1
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

MalaCards organs/tissues related to Intermediate Dend Syndrome:

42
Testes

Publications for Intermediate Dend Syndrome

Articles related to Intermediate Dend Syndrome:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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