TNDM3
MCID: DBT044
MIFTS: 24

Diabetes Mellitus, Transient Neonatal, 3 (TNDM3)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 3:

Name: Diabetes Mellitus, Transient Neonatal, 3 57 13 70
Transient Neonatal Diabetes Mellitus 3 72 29 6
Tndm3 57 72
Diabetes Mellitus, Transient Neonatal, Type 3 39
Diabetes Mellitus, Transient Neonatal 3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
responsive to oral sulfonylurea (in some patients)
onset in neonatal period (in some patients)
onset in 3rd decade of life (in some patients)


HPO:

31
diabetes mellitus, transient neonatal, 3:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


Classifications:



External Ids:

OMIM® 57 610582
MedGen 41 C1864623
UMLS 70 C1864623

Summaries for Diabetes Mellitus, Transient Neonatal, 3

UniProtKB/Swiss-Prot : 72 Transient neonatal diabetes mellitus 3: Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described.

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 3, is also known as transient neonatal diabetes mellitus 3. An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11). Related phenotypes are maternal diabetes and hyperglycemia

More information from OMIM: 610582

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 3

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 3:

31
# Description HPO Frequency HPO Source Accession
1 maternal diabetes 31 HP:0009800
2 hyperglycemia 31 HP:0003074
3 transient neonatal diabetes mellitus 31 HP:0008255
4 elevated hemoglobin a1c 31 HP:0040217

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hyperglycemia
elevated hemoglobin a1c (hba1c)

Growth Weight:
normal weight (in most patients)

Endocrine Features:
gestational diabetes
diabetes mellitus (in some patients)
diabetes mellitus, transient neonatal (in some patients)

Clinical features from OMIM®:

610582 (Updated 05-Apr-2021)

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 3

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 3

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 3

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 3:

# Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 3 29 KCNJ11

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 3

Publications for Diabetes Mellitus, Transient Neonatal, 3

Articles related to Diabetes Mellitus, Transient Neonatal, 3:

(show all 24)
# Title Authors PMID Year
1
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. 57 6
16205880 2005
2
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. 6 57
15784703 2005
3
Relapsing diabetes can result from moderately activating mutations in KCNJ11. 57 6
15718250 2005
4
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 6
27908292 2016
5
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 6
25639667 2016
6
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism. 6
24434300 2014
7
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 6
23345197 2013
8
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 6
23275527 2013
9
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels. 6
22311976 2012
10
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011. 6
21812132 2011
11
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 6
21422196 2011
12
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 6
20685672 2010
13
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. 6
20589481 2010
14
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. 6
20049716 2009
15
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. 6
18250167 2008
16
Molecular basis of neonatal diabetes in Japanese patients. 57
17635943 2007
17
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 6
17446535 2007
18
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. 57
17327377 2007
19
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. 6
16670688 2006
20
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 6
15562009 2005
21
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 6
15583126 2004
22
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 57
15115830 2004
23
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 6
12524280 2003
24
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 6
11395395 2001

Variations for Diabetes Mellitus, Transient Neonatal, 3

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) SNV Pathogenic 8666 rs80356624 GRCh37: 11:17409037-17409037
GRCh38: 11:17387490-17387490
2 KCNJ11 NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) SNV Pathogenic 8676 rs80356610 GRCh37: 11:17409515-17409515
GRCh38: 11:17387968-17387968
3 KCNJ11 NM_000525.3(KCNJ11):c.157G>A (p.Gly53Ser) SNV Pathogenic 8681 rs80356613 GRCh37: 11:17409482-17409482
GRCh38: 11:17387935-17387935
4 KCNJ11 NM_000525.3(KCNJ11):c.157G>C (p.Gly53Arg) SNV Pathogenic 8682 rs80356613 GRCh37: 11:17409482-17409482
GRCh38: 11:17387935-17387935
5 KCNJ11 NM_000525.3(KCNJ11):c.679G>A (p.Glu227Lys) SNV Pathogenic 158682 rs587783672 GRCh37: 11:17408960-17408960
GRCh38: 11:17387413-17387413
6 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) SNV Likely pathogenic 211230 rs780957825 GRCh37: 11:17408758-17408758
GRCh38: 11:17387211-17387211
7 KCNJ11 NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) Duplication Likely pathogenic 553023 rs1554901690 GRCh37: 11:17408867-17408868
GRCh38: 11:17387320-17387321
8 KCNJ11 NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) SNV Likely pathogenic 551187 rs1371185696 GRCh37: 11:17409079-17409079
GRCh38: 11:17387532-17387532
9 KCNJ11 NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) Duplication Likely pathogenic 555247 rs1337406718 GRCh37: 11:17408574-17408575
GRCh38: 11:17387027-17387028
10 KCNJ11 NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) SNV Likely pathogenic 8683 rs74339576 GRCh37: 11:17408737-17408737
GRCh38: 11:17387190-17387190
11 KCNJ11 NM_000525.3(KCNJ11):c.718dup (p.Met240fs) Duplication Likely pathogenic 555590 rs1554901718 GRCh37: 11:17408920-17408921
GRCh38: 11:17387373-17387374
12 KCNJ11 NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) SNV Likely pathogenic 557258 rs587783669 GRCh37: 11:17409141-17409141
GRCh38: 11:17387594-17387594
13 KCNJ11 NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) SNV Likely pathogenic 557416 rs954727530 GRCh37: 11:17409539-17409539
GRCh38: 11:17387992-17387992
14 KCNJ11 NM_000525.3(KCNJ11):c.290dup (p.His97fs) Duplication Likely pathogenic 557649 rs1554901854 GRCh37: 11:17409348-17409349
GRCh38: 11:17387801-17387802
15 KCNJ11 NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs) Microsatellite Likely pathogenic 556063 rs1554901829 GRCh37: 11:17409273-17409276
GRCh38: 11:17387726-17387729
16 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Likely pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
17 KCNJ11 NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) SNV Uncertain significance 550169 rs138125678 GRCh37: 11:17408623-17408623
GRCh38: 11:17387076-17387076
18 KCNJ11 NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) SNV Uncertain significance 435560 rs550315112 GRCh37: 11:17408666-17408666
GRCh38: 11:17387119-17387119
19 KCNJ11 NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) SNV Uncertain significance 556175 rs1554901747 GRCh37: 11:17409022-17409022
GRCh38: 11:17387475-17387475
20 KCNJ11 NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) SNV Uncertain significance 556784 rs768909861 GRCh37: 11:17408977-17408977
GRCh38: 11:17387430-17387430
21 KCNJ11 NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) SNV Uncertain significance 557803 rs1554901679 GRCh37: 11:17408842-17408842
GRCh38: 11:17387295-17387295
22 KCNJ11 NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) SNV Uncertain significance 558072 rs1479483693 GRCh37: 11:17409232-17409232
GRCh38: 11:17387685-17387685
23 KCNJ11 NM_000525.4(KCNJ11):c.79C>T SNV Uncertain significance 211226 rs752507753 GRCh37: 11:17409560-17409560
GRCh38: 11:17388013-17388013
24 KCNJ11 NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) Deletion Uncertain significance 555827 rs1554901658 GRCh37: 11:17408796-17408798
GRCh38: 11:17387249-17387251
25 KCNJ11 NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) SNV Uncertain significance 555940 rs1266231295 GRCh37: 11:17409112-17409112
GRCh38: 11:17387565-17387565
26 KCNJ11 NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) SNV Uncertain significance 551373 rs1001873841 GRCh37: 11:17409520-17409520
GRCh38: 11:17387973-17387973
27 KCNJ11 NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) SNV Uncertain significance 551506 rs750689750 GRCh37: 11:17408545-17408545
GRCh38: 11:17386998-17386998
28 KCNJ11 NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) SNV Uncertain significance 551926 rs1554901851 GRCh37: 11:17409347-17409347
GRCh38: 11:17387800-17387800
29 KCNJ11 NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) SNV Uncertain significance 552375 rs1014454531 GRCh37: 11:17409337-17409337
GRCh38: 11:17387790-17387790
30 KCNJ11 NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) SNV Uncertain significance 552480 rs750778014 GRCh37: 11:17409064-17409064
GRCh38: 11:17387517-17387517
31 KCNJ11 NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) SNV Uncertain significance 552596 rs149667199 GRCh37: 11:17408786-17408786
GRCh38: 11:17387239-17387239
32 KCNJ11 NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) SNV Uncertain significance 553036 rs771797701 GRCh37: 11:17408599-17408599
GRCh38: 11:17387052-17387052
33 KCNJ11 NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) SNV Uncertain significance 285043 rs774714794 GRCh37: 11:17409559-17409559
GRCh38: 11:17388012-17388012
34 KCNJ11 NM_000525.3(KCNJ11):c.-54C>T SNV Uncertain significance 553627 rs1016780684 GRCh37: 11:17409692-17409692
GRCh38: 11:17388145-17388145
35 KCNJ11 NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) SNV Uncertain significance 553835 rs1554901866 GRCh37: 11:17409375-17409375
GRCh38: 11:17387828-17387828
36 KCNJ11 NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) SNV Uncertain significance 554088 rs1233061680 GRCh37: 11:17408527-17408527
GRCh38: 11:17386980-17386980
37 KCNJ11 NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) Duplication Uncertain significance 211222 rs1440128889 GRCh37: 11:17408495-17408496
GRCh38: 11:17386948-17386949
38 KCNJ11 NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) SNV Uncertain significance 158681 rs5217 GRCh37: 11:17409055-17409055
GRCh38: 11:17387508-17387508
39 KCNJ11 NM_000525.3(KCNJ11):c.*50G>A SNV Uncertain significance 303732 rs886048041 GRCh37: 11:17408416-17408416
GRCh38: 11:17386869-17386869
40 KCNJ11 NM_000525.3(KCNJ11):c.-515G>A SNV Uncertain significance 303743 rs886048044 GRCh37: 11:17410153-17410153
GRCh38: 11:17388606-17388606
41 KCNJ11 NM_000525.3(KCNJ11):c.*701A>T SNV Uncertain significance 303715 rs5207 GRCh37: 11:17407765-17407765
GRCh38: 11:17386218-17386218
42 KCNJ11 NM_000525.3(KCNJ11):c.*732C>T SNV Uncertain significance 303714 rs886048035 GRCh37: 11:17407734-17407734
GRCh38: 11:17386187-17386187
43 KCNJ11 NM_000525.3(KCNJ11):c.*99C>G SNV Uncertain significance 303728 rs886048040 GRCh37: 11:17408367-17408367
GRCh38: 11:17386820-17386820
44 KCNJ11 NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) SNV Uncertain significance 550169 rs138125678 GRCh37: 11:17408623-17408623
GRCh38: 11:17387076-17387076
45 KCNJ11 NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) SNV Uncertain significance 287827 rs758749160 GRCh37: 11:17408546-17408546
GRCh38: 11:17386999-17386999
46 KCNJ11 NM_000525.4(KCNJ11):c.463G>A SNV Uncertain significance 158675 rs587783668 GRCh37: 11:17409176-17409176
GRCh38: 11:17387629-17387629
47 KCNJ11 NM_000525.3(KCNJ11):c.-135_-134insCT Insertion Uncertain significance 550508 rs1554901983 GRCh37: 11:17409772-17409773
GRCh38: 11:17388225-17388226
48 KCNJ11 NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) SNV Uncertain significance 551025 rs1193170151 GRCh37: 11:17408669-17408669
GRCh38: 11:17387122-17387122
49 KCNJ11 NM_000525.3(KCNJ11):c.*1055T>A SNV Uncertain significance 303710 rs886048032 GRCh37: 11:17407411-17407411
GRCh38: 11:17385864-17385864
50 KCNJ11 NM_000525.3(KCNJ11):c.*1562A>G SNV Uncertain significance 303707 rs886048031 GRCh37: 11:17406904-17406904
GRCh38: 11:17385357-17385357

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

72
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Gly53Arg VAR_026502 rs80356613
2 KCNJ11 p.Gly53Ser VAR_026503 rs80356613
3 KCNJ11 p.Ile182Val VAR_026510 rs193929348
4 KCNJ11 p.Cys42Arg VAR_031331 rs80356610

Expression for Diabetes Mellitus, Transient Neonatal, 3

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 3.

Pathways for Diabetes Mellitus, Transient Neonatal, 3

GO Terms for Diabetes Mellitus, Transient Neonatal, 3

Sources for Diabetes Mellitus, Transient Neonatal, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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