TNDM3
MCID: DBT044
MIFTS: 16

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 73
Transient Neonatal Diabetes Mellitus 3 75 29 6 40
Tndm3 57 75

Characteristics:

OMIM:

57
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:

32
diabetes mellitus, transient neonatal, 3:
Onset and clinical course neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610582
MedGen 42 C1864623
UMLS 73 C1864623

Summaries for Diabetes Mellitus, Transient Neonatal, 3

UniProtKB/Swiss-Prot : 75 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 Voltage-Gated Channel Subfamily J Member 11). Related phenotypes are maternal diabetes and hyperglycemia

Description from OMIM: 610582

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 3

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 maternal diabetes 32 HP:0009800
2 hyperglycemia 32 HP:0003074
3 transient neonatal diabetes mellitus 32 HP:0008255
4 elevated hemoglobin a1c 32 HP:0040217

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

Variations for Diabetes Mellitus, Transient Neonatal, 3

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

75
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Gly53Arg VAR_026502
2 KCNJ11 p.Gly53Ser VAR_026503
3 KCNJ11 p.Ile182Val VAR_026510
4 KCNJ11 p.Cys42Arg VAR_031331

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

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh37 Chromosome 11, 17409037: 17409037
2 KCNJ11 NM_000525.3(KCNJ11): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs80356624 GRCh38 Chromosome 11, 17387490: 17387490
3 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
4 KCNJ11 NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh38 Chromosome 11, 17387968: 17387968
5 KCNJ11 NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser) single nucleotide variant Pathogenic rs80356613 GRCh37 Chromosome 11, 17409482: 17409482
6 KCNJ11 NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser) single nucleotide variant Pathogenic rs80356613 GRCh38 Chromosome 11, 17387935: 17387935
7 KCNJ11 NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg) single nucleotide variant Pathogenic rs80356613 GRCh37 Chromosome 11, 17409482: 17409482
8 KCNJ11 NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg) single nucleotide variant Pathogenic rs80356613 GRCh38 Chromosome 11, 17387935: 17387935
9 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
10 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
11 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
12 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
13 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
14 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
15 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh38 Chromosome 11, 17386949: 17386954
16 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh37 Chromosome 11, 17408496: 17408501
17 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
18 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
19 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
20 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
21 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh37 Chromosome 11, 17409559: 17409559
22 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh38 Chromosome 11, 17388012: 17388012
23 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh37 Chromosome 11, 17408546: 17408546
24 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh38 Chromosome 11, 17386999: 17386999
25 KCNJ11 NM_000525.3(KCNJ11): c.841_843delCTC (p.Leu281del) deletion Uncertain significance GRCh37 Chromosome 11, 17408795: 17408798
26 KCNJ11 NM_000525.3(KCNJ11): c.841_843delCTC (p.Leu281del) deletion Uncertain significance GRCh38 Chromosome 11, 17387249: 17387251
27 KCNJ11 NM_000525.3(KCNJ11): c.407G> A (p.Arg136His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17409232: 17409232
28 KCNJ11 NM_000525.3(KCNJ11): c.407G> A (p.Arg136His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17387685: 17387685
29 KCNJ11 NM_000525.3(KCNJ11): c.290dup (p.His97Glnfs) duplication Likely pathogenic GRCh37 Chromosome 11, 17409348: 17409348
30 KCNJ11 NM_000525.3(KCNJ11): c.290dup (p.His97Glnfs) duplication Likely pathogenic GRCh38 Chromosome 11, 17387802: 17387802
31 KCNJ11 NM_000525.3(KCNJ11): c.264G> T (p.Met88Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17409375: 17409375
32 KCNJ11 NM_000525.3(KCNJ11): c.264G> T (p.Met88Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17387828: 17387828
33 KCNJ11 NM_000525.3(KCNJ11): c.119G> A (p.Gly40Asp) single nucleotide variant Uncertain significance rs1001873841 GRCh37 Chromosome 11, 17409520: 17409520
34 KCNJ11 NM_000525.3(KCNJ11): c.119G> A (p.Gly40Asp) single nucleotide variant Uncertain significance rs1001873841 GRCh38 Chromosome 11, 17387973: 17387973
35 KCNJ11 NM_000525.3(KCNJ11): c.100C> T (p.Arg34Cys) single nucleotide variant Likely pathogenic rs954727530 GRCh37 Chromosome 11, 17409539: 17409539
36 KCNJ11 NM_000525.3(KCNJ11): c.100C> T (p.Arg34Cys) single nucleotide variant Likely pathogenic rs954727530 GRCh38 Chromosome 11, 17387992: 17387992
37 KCNJ11 NM_000525.3(KCNJ11): c.1112G> A (p.Arg371His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17408527: 17408527
38 KCNJ11 NM_000525.3(KCNJ11): c.1112G> A (p.Arg371His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17386980: 17386980
39 KCNJ11 NM_000525.3(KCNJ11): c.1094G> A (p.Arg365His) single nucleotide variant Uncertain significance rs750689750 GRCh37 Chromosome 11, 17408545: 17408545
40 KCNJ11 NM_000525.3(KCNJ11): c.1094G> A (p.Arg365His) single nucleotide variant Uncertain significance rs750689750 GRCh38 Chromosome 11, 17386998: 17386998
41 KCNJ11 NM_000525.3(KCNJ11): c.1040G> A (p.Arg347His) single nucleotide variant Uncertain significance rs771797701 GRCh37 Chromosome 11, 17408599: 17408599
42 KCNJ11 NM_000525.3(KCNJ11): c.1040G> A (p.Arg347His) single nucleotide variant Uncertain significance rs771797701 GRCh38 Chromosome 11, 17387052: 17387052
43 KCNJ11 NM_000525.3(KCNJ11): c.1016T> G (p.Val339Gly) single nucleotide variant Uncertain significance rs138125678 GRCh37 Chromosome 11, 17408623: 17408623
44 KCNJ11 NM_000525.3(KCNJ11): c.1016T> G (p.Val339Gly) single nucleotide variant Uncertain significance rs138125678 GRCh38 Chromosome 11, 17387076: 17387076
45 KCNJ11 NM_000525.3(KCNJ11): c.797C> T (p.Pro266Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17408842: 17408842
46 KCNJ11 NM_000525.3(KCNJ11): c.797C> T (p.Pro266Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17387295: 17387295
47 KCNJ11 NM_000525.3(KCNJ11): c.498C> A (p.Cys166Ter) single nucleotide variant Likely pathogenic rs587783669 GRCh37 Chromosome 11, 17409141: 17409141
48 KCNJ11 NM_000525.3(KCNJ11): c.498C> A (p.Cys166Ter) single nucleotide variant Likely pathogenic rs587783669 GRCh38 Chromosome 11, 17387594: 17387594
49 KCNJ11 NM_000525.3(KCNJ11): c.-54C> T single nucleotide variant Uncertain significance rs1016780684 GRCh37 Chromosome 11, 17409692: 17409692
50 KCNJ11 NM_000525.3(KCNJ11): c.-54C> T single nucleotide variant Uncertain significance rs1016780684 GRCh38 Chromosome 11, 17388145: 17388145

Expression for Diabetes Mellitus, Transient Neonatal, 3

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Pathways for Diabetes Mellitus, Transient Neonatal, 3

GO Terms for Diabetes Mellitus, Transient Neonatal, 3

Sources for Diabetes Mellitus, Transient Neonatal, 3

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