Details of Disease

General Information of Disease (ID: DISRNWGB)

Disease Name DEND syndrome
Synonyms developmental delay-epilepsy-neonatal diabetes syndrome; K ATP associated developmental delay, epilepsy and neonatal diabetes
Definition DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
Disease Hierarchy
DIS5AEXS: Permanent neonatal diabetes mellitus
DISRNWGB: DEND syndrome
Disease Identifiers
MONDO ID
MONDO_0019207
UMLS CUI
C4303593
MedGen ID
929262
Orphanet ID
79134
SNOMED CT ID
721088003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCC8 TTP835K Strong Biomarker [1]
KCNJ11 TT329V4 Strong Genetic Variation [2]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC8 DTI58LU Supportive Autosomal dominant [3]
KCNJ11 DTGZICY Supportive Autosomal dominant [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCC8 OTCWQ54I Supportive Autosomal dominant [3]
KCNJ11 OTPUUELV Supportive Autosomal dominant [3]
PTF1A OT7SWA57 Strong Genetic Variation [4]
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References

1 Methods for Characterizing Disease-Associated ATP-Sensitive Potassium Channel Mutations.Methods Mol Biol. 2018;1684:85-104. doi: 10.1007/978-1-4939-7362-0_8.
2 DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.J Korean Med Sci. 2017 Jun;32(6):1042-1045. doi: 10.3346/jkms.2017.32.6.1042.
3 The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):171-87. doi: 10.1016/j.beem.2011.12.001.
4 Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):168-174. doi: 10.4274/jcrpe.5162. Epub 2017 Sep 25.