MCID: DBT044
MIFTS: 16

Diabetes Mellitus, Transient Neonatal, 3

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

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

Name: Diabetes Mellitus, Transient Neonatal, 3 53 13 69
Transient Neonatal Diabetes Mellitus 3 71 28
Tndm3 53 71

Characteristics:

OMIM:

53
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 53 610582
MedGen 39 C1864623
UMLS 69 C1864623

Summaries for Diabetes Mellitus, Transient Neonatal, 3

UniProtKB/Swiss-Prot : 71 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, and has symptoms including maternal diabetes, hyperglycemia and transient neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11).

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:

53
Growth Weight:
normal weight (in most patients)

Laboratory Abnormalities:
hyperglycemia
elevated hemoglobin a1c (hba1c)

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


Clinical features from OMIM:

610582

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

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 28 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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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