MCID: INT222
MIFTS: 10

Intermediate Dend Syndrome

Categories: Neuronal diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Intermediate Dend Syndrome

MalaCards integrated aliases for Intermediate Dend Syndrome:

Name: Intermediate Dend Syndrome 55
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome, Intermediate Form 55

Characteristics:

Orphanet epidemiological data:

55
intermediate dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 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 aging and 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 aging 10.0
2 diabetes mellitus 10.0
3 neonatal diabetes mellitus 10.0
4 neonatal dermatomyositis 10.0

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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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