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DEND syndrome

MedGen UID:
929262
Concept ID:
C4303593
Disease or Syndrome
Synonyms: DEND (developmental delay, epilepsy, neonatal diabetes) syndrome; Developmental delay, epilepsy, neonatal diabetes syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome; developmental delay-epilepsy-neonatal diabetes syndrome; K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes; K ATP associated developmental delay, epilepsy and neonatal diabetes
SNOMED CT: Developmental delay, epilepsy, neonatal diabetes syndrome (721088003); DEND syndrome (721088003); DEND (developmental delay, epilepsy, neonatal diabetes) syndrome (721088003)
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.
 
Monarch Initiative: MONDO:0019207
Orphanet: ORPHA79134

Definition

A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

Gopi S, Kavitha B, Kanthimathi S, Kannan A, Kumar R, Joshi R, Kanodia S, Arya AD, Pendsey S, Pendsey S, Raghupathy P, Mohan V, Radha V
Pediatr Diabetes 2021 Feb;22(1):82-92. Epub 2020 Sep 15 doi: 10.1111/pedi.13109. PMID: 32893419
Letourneau LR, Greeley SAW
Curr Diab Rep 2019 Jun 27;19(8):52. doi: 10.1007/s11892-019-1175-9. PMID: 31250216Free PMC Article
Slingerland AS, Hattersley AT
Ann Med 2005;37(3):186-95. doi: 10.1080/07853890510007287. PMID: 16019717

Recent clinical studies

Etiology

Kim JH, Lee Y, Choi Y, Kim GH, Yoo HW, Choi JH
BMC Pediatr 2021 Mar 4;21(1):108. doi: 10.1186/s12887-021-02575-6. PMID: 33663443Free PMC Article
Cao L, He Y, Huang Q, Zhang Y, Deng P, Du W, Hua Z, Zhu M, Wei H
Endocrine 2020 Jul;69(1):53-62. Epub 2020 Apr 11 doi: 10.1007/s12020-020-02279-4. PMID: 32279225
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):168-174. Epub 2017 Sep 25 doi: 10.4274/jcrpe.5162. PMID: 28943513Free PMC Article
Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC Article
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT
Diabetologia 2006 Jun;49(6):1190-7. Epub 2006 Apr 12 doi: 10.1007/s00125-006-0246-z. PMID: 16609879

Diagnosis

Barash G, Bassan H, Livne A, Benyamini L, Heyman E, Bowman P, Rachmiel M
Acta Diabetol 2021 Dec;58(12):1665-1672. Epub 2021 Jul 16 doi: 10.1007/s00592-021-01763-1. PMID: 34272607
Kandasamy B, Shyng SL
Methods Mol Biol 2018;1684:85-104. doi: 10.1007/978-1-4939-7362-0_8. PMID: 29058186
Cho JH, Kang E, Lee BH, Kim GH, Choi JH, Yoo HW
J Korean Med Sci 2017 Jun;32(6):1042-1045. doi: 10.3346/jkms.2017.32.6.1042. PMID: 28480665Free PMC Article
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F
Neurology 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25 doi: 10.1212/01.wnl.0000268488.51776.53. PMID: 17652641

Therapy

Tikhonovich Y, Petryaykina E, Zubkova N, Garyaeva I, Tiulpakov A
Acta Diabetol 2022 Sep;59(9):1251-1253. Epub 2022 Jun 1 doi: 10.1007/s00592-022-01904-0. PMID: 35648253
Cho JH, Kang E, Lee BH, Kim GH, Choi JH, Yoo HW
J Korean Med Sci 2017 Jun;32(6):1042-1045. doi: 10.3346/jkms.2017.32.6.1042. PMID: 28480665Free PMC Article
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
Shimomura K
Endocr J 2009;56(2):165-75. Epub 2008 Jun 20 doi: 10.1507/endocrj.k08e-160. PMID: 18566517
Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F
Neurology 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25 doi: 10.1212/01.wnl.0000268488.51776.53. PMID: 17652641

Prognosis

Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S
J Clin Res Pediatr Endocrinol 2018 Jun 1;10(2):168-174. Epub 2017 Sep 25 doi: 10.4274/jcrpe.5162. PMID: 28943513Free PMC Article
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
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
Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC Article
Bahi-Buisson N, Eisermann M, Nivot S, Bellanné-Chantelot C, Dulac O, Bach N, Plouin P, Chiron C, de Lonlay P
J Child Neurol 2007 Sep;22(9):1147-50. doi: 10.1177/0883073807306272. PMID: 17890419

Clinical prediction guides

Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705Free PMC Article
Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1350-5. doi: 10.1590/s0004-27302008000800024. PMID: 19169493

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