MCID: DBT098
MIFTS: 15

Diabetes Mellitus, Transient Neonatal, 2

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 2

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 2:

Name: Diabetes Mellitus, Transient Neonatal, 2 57 73
Transient Neonatal Diabetes Mellitus 2 75 29 6 40
Diabetes Mellitus, Transient Neonatal 2 57 13
Tndm2 57 75

Characteristics:

HPO:

32
diabetes mellitus, transient neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610374
MedGen 42 C1835887
SNOMED-CT via HPO 69 263681008 44054006 237603002
UMLS 73 C1835887

Summaries for Diabetes Mellitus, Transient Neonatal, 2

UniProtKB/Swiss-Prot : 75 Transient neonatal diabetes mellitus 2: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence.

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 2, is also known as transient neonatal diabetes mellitus 2. An important gene associated with Diabetes Mellitus, Transient Neonatal, 2 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are type ii diabetes mellitus and transient neonatal diabetes mellitus

Description from OMIM: 610374

Related Diseases for Diabetes Mellitus, Transient Neonatal, 2

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 2

Clinical features from OMIM:

610374

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 2:

32
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 32 very rare (1%) HP:0005978
2 transient neonatal diabetes mellitus 32 HP:0008255

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 2

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 2

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 2

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 2:

# Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 2 29 ABCC8

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 2

Publications for Diabetes Mellitus, Transient Neonatal, 2

Variations for Diabetes Mellitus, Transient Neonatal, 2

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 2:

75
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Cys435Arg VAR_029780
2 ABCC8 p.Leu582Val VAR_029781 rs137852674
3 ABCC8 p.His1023Tyr VAR_029782
4 ABCC8 p.Arg1182Gln VAR_029783 rs193922400
5 ABCC8 p.Arg1379Cys VAR_029785 rs137852673

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
2 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
3 ABCC8 NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val) single nucleotide variant Pathogenic rs137852674 GRCh37 Chromosome 11, 17452434: 17452434
4 ABCC8 NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val) single nucleotide variant Pathogenic rs137852674 GRCh38 Chromosome 11, 17430887: 17430887
5 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh37 Chromosome 11, 17426071: 17426071
6 ABCC8 NM_000352.4(ABCC8): c.3545G> A (p.Arg1182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193922400 GRCh38 Chromosome 11, 17404524: 17404524
7 ABCC8 NM_000352.4(ABCC8): c.3544C> T (p.Arg1182Trp) single nucleotide variant Pathogenic rs797045209 GRCh38 Chromosome 11, 17404525: 17404525
8 ABCC8 NM_000352.4(ABCC8): c.3544C> T (p.Arg1182Trp) single nucleotide variant Pathogenic rs797045209 GRCh37 Chromosome 11, 17426072: 17426072

Expression for Diabetes Mellitus, Transient Neonatal, 2

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 2.

Pathways for Diabetes Mellitus, Transient Neonatal, 2

GO Terms for Diabetes Mellitus, Transient Neonatal, 2

Sources for Diabetes Mellitus, Transient Neonatal, 2

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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