Details of Disease | DrugMAP

General Information of Disease (ID: DISCHN6V)

Disease Name	Intermediate DEND syndrome
Synonyms	developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
Definition	Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.
Disease Hierarchy	DISRNWGB: DEND syndrome DISCHN6V: Intermediate DEND syndrome
Disease Identifiers	MONDO ID MONDO_0020569 UMLS CUI C5680423 MedGen ID 1843317 Orphanet ID 99989

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	DTGZICY	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ11	OTPUUELV	Supportive	Autosomal dominant	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.