KEGG DISEASE: 新生児永続型糖尿病

DISEASE: 新生児永続型糖尿病

エントリ

H00512

名称

新生児永続型糖尿病

概要

Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). In the case of PNDM, the condition does not resolve over time. The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients.

カテゴリ

内分泌代謝疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
19 周産期に発生した病態
  胎児または新生児に特異的な一過性の内分泌または代謝疾患
   KB60  胎児または新生児に特異的な一過性糖質代謝疾患
    H00512  新生児永続型糖尿病
パスウェイに基づく疾患分類 [BR:jp08402]
内分泌系
  nt06325  ホルモンとサイトカインのシグナリング
   H00512  新生児永続型糖尿病

パスウェイ

hsa04911

Insulin secretion

hsa04931

Insulin resistance

ネットワーク

nt06325 Hormone/cytokine signaling

病因遺伝子

(PNDM1) GCK [HSA:2645] [KO:K12407]
(PNDM2) KCNJ11 [HSA:3767] [KO:K05004]
(PNDM3) ABCC8 [HSA:6833] [KO:K05032]
(PNDM4) INS [HSA:3630] [KO:K04526]
(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PACA) PTF1A [HSA:256297] [KO:K09073]
(IPEX) FOXP3 [HSA:50943] [KO:K10163]
(NDH) GLIS3 [HSA:169792] [KO:K09232]

リンク

ICD-11:

KB60.2Y

ICD-10:

P70.2

MeSH:

C563424 C563425 C563796

OMIM:

606176 618856 618857 618858 260370 609069 304790 610199

文献

PMID:17349054

著者

Polak M, Cave H

タイトル

Neonatal diabetes mellitus: a disease linked to multiple mechanisms.

雑誌

Orphanet J Rare Dis 2:12 (2007)
DOI:10.1186/1750-1172-2-12

文献

PMID:21054355

著者

Rubio-Cabezas O, Klupa T, Malecki MT

タイトル

Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.

雑誌

Eur J Clin Invest 41:323-33 (2011)
DOI:10.1111/j.1365-2362.2010.02409.x

文献

PMID:11372010 (GCK)

著者

Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI

タイトル

Neonatal diabetes mellitus due to complete glucokinase deficiency.

雑誌

N Engl J Med 344:1588-92 (2001)
DOI:10.1056/NEJM200105243442104

文献

PMID:15115830 (KCNJ11)

著者

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT

タイトル

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

雑誌

N Engl J Med 350:1838-49 (2004)
DOI:10.1056/NEJMoa032922

文献

PMID:16613899 (ABCC8)

著者

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S

タイトル

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

雑誌

Hum Mol Genet 15:1793-800 (2006)
DOI:10.1093/hmg/ddl101

文献

PMID:17855560 (INS)

著者

Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI

タイトル

Insulin gene mutations as a cause of permanent neonatal diabetes.

雑誌

Proc Natl Acad Sci U S A 104:15040-4 (2007)
DOI:10.1073/pnas.0707291104

文献

PMID:20009086 (PDX1)

著者

Nicolino M, Claiborn KC, Senee V, Boland A, Stoffers DA, Julier C

タイトル

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

雑誌

Diabetes 59:733-40 (2010)
DOI:10.2337/db09-1284

文献

PMID:15543146 (PTF1A)

著者

Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS

タイトル

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

雑誌

Nat Genet 36:1301-5 (2004)
DOI:10.1038/ng1475

文献

PMID:16741580 (FOXP3)

著者

Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG

タイトル

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

雑誌

J Clin Invest 116:1713-22 (2006)
DOI:10.1172/JCI25112

文献

PMID:16715098 (GLIS3)

著者

Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougneres P, Taha D, Julier C

タイトル

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

雑誌

Nat Genet 38:682-7 (2006)
DOI:10.1038/ng1802

LinkDB

» English version

DBGET integrated database retrieval system