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Intermediate DEND syndrome

MedGen UID:
1843317
•Concept ID:
C5680423
•
Disease or Syndrome
Synonyms: Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form; developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form; intermediate DEND syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0020569
Orphanet: ORPHA99989

Definition

A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntermediate DEND syndrome

Recent clinical studies

Diagnosis

Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.
Thakkar AN, Muranjan MN, Karande S, Shah NS
Indian J Pediatr 2014 Jul;81(7):702-4. Epub 2013 Jun 20 doi: 10.1007/s12098-013-1102-z. PMID: 23783767
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
Dupont J, Pereira C, Medeira A, Duarte R, Ellard S, Sampaio L
J Pediatr Endocrinol Metab 2012;25(3-4):367-70. doi: 10.1515/jpem-2011-0191. PMID: 22768671
AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.
Sang Y, Ni G, Gu Y, Liu M
J Pediatr Endocrinol Metab 2011;24(9-10):763-6. doi: 10.1515/jpem.2011.258. PMID: 22145471
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.
Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP
Pediatr Diabetes 2010 May;11(3):203-7. Epub 2009 Jul 21 doi: 10.1111/j.1399-5448.2009.00548.x. PMID: 19686306
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.
Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM
Nat Clin Pract Neurol 2007 Nov;3(11):640-5. doi: 10.1038/ncpneuro0640. PMID: 17982434

Therapy

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.
Ozsu E, Giri D, Seymen Karabulut G, Senniappan S
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1403-1406. doi: 10.1515/jpem-2016-0149. PMID: 27849623
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
Dupont J, Pereira C, Medeira A, Duarte R, Ellard S, Sampaio L
J Pediatr Endocrinol Metab 2012;25(3-4):367-70. doi: 10.1515/jpem-2011-0191. PMID: 22768671
AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.
Sang Y, Ni G, Gu Y, Liu M
J Pediatr Endocrinol Metab 2011;24(9-10):763-6. doi: 10.1515/jpem.2011.258. PMID: 22145471
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.
Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP
Pediatr Diabetes 2010 May;11(3):203-7. Epub 2009 Jul 21 doi: 10.1111/j.1399-5448.2009.00548.x. PMID: 19686306
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.
Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM
Nat Clin Pract Neurol 2007 Nov;3(11):640-5. doi: 10.1038/ncpneuro0640. PMID: 17982434

Prognosis

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.
Ozsu E, Giri D, Seymen Karabulut G, Senniappan S
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1403-1406. doi: 10.1515/jpem-2016-0149. PMID: 27849623

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