TNDM3
MCID: DBT044
MIFTS: 22

Diabetes Mellitus, Transient Neonatal, 3 (TNDM3) malady

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

Aliases & Descriptions for Diabetes Mellitus, Transient Neonatal, 3:

Name: Diabetes Mellitus, Transient Neonatal, 3 54 13 69
Transient Neonatal Diabetes Mellitus 3 66 29
Tndm3 66

Characteristics:

HPO:

32
diabetes mellitus, transient neonatal, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 610582
MedGen 40 C1864623

Summaries for Diabetes Mellitus, Transient Neonatal, 3

UniProtKB/Swiss-Prot : 66 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, also known as transient neonatal diabetes mellitus 3, is related to diabetes mellitus, transient neonatal, 1, and has symptoms including transient neonatal diabetes mellitus An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11). The drugs Diazoxide and Progesterone have been mentioned in the context of this disorder.

Description from OMIM: 610582

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

Diseases in the Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal 2
Diabetes Mellitus, Transient Neonatal, 3 Diabetes Mellitus, 6q24-Related Transient Neonatal
Abcc8-Related Transient Neonatal Diabetes Mellitus 2 Diabetes Mellitus, Kcnj11-Related Transient Neonatal

Diseases related to Diabetes Mellitus, Transient Neonatal, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, transient neonatal, 1 10.8

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 3

Clinical features from OMIM:

610582

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

32
id Description HPO Frequency HPO Source Accession
1 transient neonatal diabetes mellitus 32 HP:0008255

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 3

Drugs for Diabetes Mellitus, Transient Neonatal, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
2
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
3 Vasodilator Agents Phase 2, Phase 3
4 Hypoglycemic Agents Phase 2, Phase 3
5 Antihypertensive Agents Phase 2, Phase 3
6 Progestins Phase 3
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Estrogen Antagonists Phase 3
11 Estrogens Phase 3
12 11-hydroxyprogesterone Phase 3
13 17-alpha-hydroxy-progesterone caproate Phase 3
14 Caproate Nutraceutical Phase 3
15 Neuroserpin
16 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3
2 Trial of Progesterone in Twins and Triplets to Prevent Preterm Birth (STTARS) Completed NCT00099164 Phase 3
3 Genetic Disease Gene Identification Unknown status NCT00916903
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

id Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 3 29

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:

66
id 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
id 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.124T> C (p.Cys42Arg) single nucleotide variant Pathogenic rs80356610 GRCh37 Chromosome 11, 17409515: 17409515
3 KCNJ11 NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser) single nucleotide variant Pathogenic rs80356613 GRCh37 Chromosome 11, 17409482: 17409482
4 KCNJ11 NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg) single nucleotide variant Pathogenic rs80356613 GRCh37 Chromosome 11, 17409482: 17409482

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....