MCID: DBT044
MIFTS: 16

Diabetes Mellitus, Transient Neonatal, 3

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases, Fetal 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:
Inheritance autosomal dominant inheritance
Onset and clinical course neonatal onset


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 hyperglycemia and transient neonatal diabetes mellitus

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
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:

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

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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