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Developmental delay, epilepsy, and neonatal diabetes

MedGen UID:: 340009
•Concept ID:: C1853564
•: Disease or Syndrome

Synonym:

Developmental Delay, Epilepsy, and Neonatal Diabetes

Term Hierarchy

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeonatal diabetes mellitus
- CROGVPermanent neonatal diabetes mellitus
  - CROGVDiabetes mellitus, transient neonatal, 3
    - CROGVDevelopmental delay, epilepsy, and neonatal diabetes
  - CROGVPancreatic agenesis 1
  - CROGVPancreatic beta cell agenesis with neonatal diabetes mellitus
- CROGVTransitory neonatal diabetes mellitus
  - CROGVDiabetes mellitus, transient neonatal, 1
  - CROGVDiabetes mellitus, transient neonatal, 2

Disorder of endocrine system
- Diabetes mellitus
  - Childhood Diabetes Mellitus
    - Neonatal diabetes mellitus
      - Permanent neonatal diabetes mellitus
        Diabetes mellitus, transient neonatal, 3
        Developmental delay, epilepsy, and neonatal diabetes

Professional guidelines

PubMed

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

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

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS, Hattersley AT
Ann Med 2005;37(3):186-95. doi: 10.1080/07853890510007287. PMID: 16019717

See all (2)

Recent clinical studies

Etiology

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.

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: 33663443 Free PMC Article

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.

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: 28943513 Free PMC Article

Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.

Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME
Diabetes Care 2012 Oct;35(10):2086-8. Epub 2012 Aug 1 doi: 10.2337/dc11-2225. PMID: 22855734 Free PMC Article

Human K(ATP) channelopathies: diseases of metabolic homeostasis.

Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705 Free PMC Article

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group
Diabetes 2007 Jun;56(6):1737-41. Epub 2007 Mar 27 doi: 10.2337/db06-1540. PMID: 17389331

See all (6)

Diagnosis

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.

Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

Edghill EL, Flanagan SE, Ellard S
Rev Endocr Metab Disord 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. PMID: 20922570

The K(ATP) channel and neonatal diabetes.

Shimomura K
Endocr J 2009;56(2):165-75. Epub 2008 Jun 20 doi: 10.1507/endocrj.k08e-160. PMID: 18566517

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Hattersley AT, Ashcroft FM
Diabetes 2005 Sep;54(9):2503-13. doi: 10.2337/diabetes.54.9.2503. PMID: 16123337

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS, Hattersley AT
Ann Med 2005;37(3):186-95. doi: 10.1080/07853890510007287. PMID: 16019717

See all (32)

Therapy

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.

Permanent Neonatal Diabetes (DEND Syndrome).

Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500

Neonatal diabetes with intractable epilepsy: DEND syndrome.

Singh P, Rao SC, Parikh R
Indian J Pediatr 2014 Dec;81(12):1387-8. Epub 2014 Jun 10 doi: 10.1007/s12098-014-1486-4. PMID: 24912436

The K(ATP) channel and neonatal diabetes.

Shimomura K
Endocr J 2009;56(2):165-75. Epub 2008 Jun 20 doi: 10.1507/endocrj.k08e-160. PMID: 18566517

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

See all (17)

Prognosis

Permanent Neonatal Diabetes (DEND Syndrome).

Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500

Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.

Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S
Pediatr Diabetes 2012 Sep;13(6):499-505. Epub 2011 Nov 8 doi: 10.1111/j.1399-5448.2011.00828.x. PMID: 22060631

Human K(ATP) channelopathies: diseases of metabolic homeostasis.

Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705 Free PMC Article

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F
Diabetes 2007 Feb;56(2):328-36. doi: 10.2337/db06-1275. PMID: 17259376

See all (9)

Clinical prediction guides

Molecular and clinical features of K(ATP) -channel neonatal diabetes mellitus in Japan.

Human K(ATP) channelopathies: diseases of metabolic homeostasis.

Olson TM, Terzic A
Pflugers Arch 2010 Jul;460(2):295-306. Epub 2009 Dec 24 doi: 10.1007/s00424-009-0771-y. PMID: 20033705 Free PMC Article

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F
J Clin Endocrinol Metab 2008 Mar;93(3):1054-61. Epub 2007 Dec 11 doi: 10.1210/jc.2007-1826. PMID: 18073297 Free PMC Article

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F
Diabetes 2007 Feb;56(2):328-36. doi: 10.2337/db06-1275. PMID: 17259376

Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.

Slingerland AS, Hattersley AT
J Clin Endocrinol Metab 2006 Jul;91(7):2782-8. Epub 2006 Apr 24 doi: 10.1210/jc.2006-0201. PMID: 16636122

See all (7)

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Developmental delay, epilepsy, and neonatal diabetes

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

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