TNDM2
MCID: DBT098
MIFTS: 15

Diabetes Mellitus, Transient Neonatal, 2 (TNDM2)

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 2

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

Name: Diabetes Mellitus, Transient Neonatal, 2 58 74
Transient Neonatal Diabetes Mellitus 2 76 30 6 41
Diabetes Mellitus, Transient Neonatal 2 58 13
Tndm2 58 76

Characteristics:

HPO:

33
diabetes mellitus, transient neonatal, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610374
MedGen 43 C1835887
SNOMED-CT via HPO 70 237603002 263681008 44054006
UMLS 74 C1835887

Summaries for Diabetes Mellitus, Transient Neonatal, 2

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 33 very rare (1%) HP:0005978
2 transient neonatal diabetes mellitus 33 HP:0008255

Clinical features from OMIM:

610374

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 30 ABCC8

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 2

Publications for Diabetes Mellitus, Transient Neonatal, 2

Articles related to Diabetes Mellitus, Transient Neonatal, 2:

# Title Authors Year
1
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. ( 18025464 )
2007
2
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. ( 16885549 )
2006

Variations for Diabetes Mellitus, Transient Neonatal, 2

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

76
# 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 (show all 24)
# 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.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh37 Chromosome 11, 17485156: 17485156
8 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh38 Chromosome 11, 17463609: 17463609
9 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
10 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
11 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
12 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh37 Chromosome 11, 17434263: 17434263
13 ABCC8 NM_000352.4(ABCC8): c.3544C> T (p.Arg1182Trp) single nucleotide variant Pathogenic rs797045209 GRCh38 Chromosome 11, 17404525: 17404525
14 ABCC8 NM_000352.4(ABCC8): c.3544C> T (p.Arg1182Trp) single nucleotide variant Pathogenic rs797045209 GRCh37 Chromosome 11, 17426072: 17426072
15 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh38 Chromosome 11, 17448596: 17448596
16 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh37 Chromosome 11, 17470143: 17470143
17 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
18 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 GRCh37 Chromosome 11, 17415926: 17415926
19 ABCC8 NM_000352.4(ABCC8): c.2176G> A (p.Ala726Thr) single nucleotide variant Uncertain significance rs138687850 GRCh38 Chromosome 11, 17427095: 17427095
20 ABCC8 NM_000352.4(ABCC8): c.2176G> A (p.Ala726Thr) single nucleotide variant Uncertain significance rs138687850 GRCh37 Chromosome 11, 17448642: 17448642
21 ABCC8 NM_000352.4(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 GRCh37 Chromosome 11, 17496502: 17496502
22 ABCC8 NM_000352.4(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 GRCh38 Chromosome 11, 17474955: 17474955
23 ABCC8 NM_000352.4(ABCC8): c.290+2T> C single nucleotide variant Likely pathogenic rs1554948310 GRCh37 Chromosome 11, 17496431: 17496431
24 ABCC8 NM_000352.4(ABCC8): c.290+2T> C single nucleotide variant Likely pathogenic rs1554948310 GRCh38 Chromosome 11, 17474884: 17474884

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

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