TNDM1
MCID: DBT064
MIFTS: 31

Diabetes Mellitus, Transient Neonatal, 1 (TNDM1)

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

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 1

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 1:

Name: Diabetes Mellitus, Transient Neonatal, 1 58 13 74
Transient Neonatal Diabetes Mellitus 1 76 30 6
Tndm1 58 76
Diabetes Mellitus, Neonatal, Transient, Type 1 41
Transient Neonatal Diabetes Mellitus 74
Tndm 58
Dmtn 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (loss of maternal allele)

Miscellaneous:
imprinted disorder
usual resolution within 6 months
insulin therapy usually required


Classifications:



External Ids:

OMIM 58 601410
MedGen 43 C1832386

Summaries for Diabetes Mellitus, Transient Neonatal, 1

OMIM : 58 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). 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 (606176). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997). The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene (603044; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. (601410)

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 1, also known as transient neonatal diabetes mellitus 1, is related to neonatal diabetes mellitus and diabetes mellitus. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 is ZFP57 (ZFP57 Zinc Finger Protein). Affiliated tissues include testes, and related phenotypes are dehydration and intrauterine growth retardation

UniProtKB/Swiss-Prot : 76 Transient neonatal diabetes mellitus 1: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. 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.

Related Diseases for Diabetes Mellitus, Transient Neonatal, 1

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 1:



Diseases related to Diabetes Mellitus, Transient Neonatal, 1

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 1

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

33
# Description HPO Frequency HPO Source Accession
1 dehydration 33 HP:0001944
2 intrauterine growth retardation 33 HP:0001511
3 severe failure to thrive 33 HP:0001525
4 hyperglycemia 33 HP:0003074
5 transient neonatal diabetes mellitus 33 HP:0008255

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
dehydration

Laboratory Abnormalities:
hyperglycemia

Growth Other:
intrauterine growth retardation
severe failure to thrive

Endocrine Features:
transient neonatal diabetes mellitus (tndm)
late predisposition to type 2 (insulin resistant) diabetes

Clinical features from OMIM:

601410

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 1

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 1

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 1:

# Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 1 30 HYMAI ZFP57

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

MalaCards organs/tissues related to Diabetes Mellitus, Transient Neonatal, 1:

42
Testes

Publications for Diabetes Mellitus, Transient Neonatal, 1

Articles related to Diabetes Mellitus, Transient Neonatal, 1:

(show top 50) (show all 68)
# Title Authors Year
1
Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. ( 30897598 )
2019
2
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ( 29675256 )
2018
3
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ( 29527407 )
2018
4
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. ( 30315371 )
2018
5
Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )
2017
6
Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )
2017
7
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )
2017
8
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )
2017
9
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. ( 28804207 )
2017
10
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )
2015
11
Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )
2015
12
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )
2015
13
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )
2015
14
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. ( 24569603 )
2014
15
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. ( 24859512 )
2014
16
6q24 transient neonatal diabetes mellitus: the first case report from China. ( 25316252 )
2014
17
Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience. ( 25437016 )
2014
18
Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. ( 24552466 )
2014
19
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. ( 23748067 )
2013
20
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. ( 23385738 )
2013
21
Insulin pump therapy in transient neonatal diabetes mellitus. ( 24904869 )
2013
22
Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. ( 22547676 )
2012
23
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. ( 22749773 )
2012
24
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. ( 22768014 )
2011
25
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. ( 21738553 )
2011
26
A case of transient neonatal diabetes mellitus. ( 21131807 )
2010
27
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. ( 20412110 )
2010
28
Transient neonatal diabetes mellitus type 1. ( 20803656 )
2010
29
An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. ( 19446154 )
2009
30
Transient neonatal diabetes mellitus in an extremely preterm infant. ( 21686427 )
2009
31
Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. ( 19012334 )
2008
32
Transient neonatal diabetes mellitus in extremely preterm infant. ( 18192332 )
2008
33
Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. ( 18486206 )
2008
34
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )
2007
35
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. ( 17220064 )
2006
36
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. ( 16816970 )
2006
37
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. ( 16402210 )
2006
38
Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. ( 16873690 )
2006
39
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. ( 16205880 )
2005
40
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. ( 15635480 )
2005
41
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. ( 15924231 )
2005
42
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. ( 15286800 )
2004
43
Transient neonatal diabetes mellitus: a patient report. ( 14513885 )
2003
44
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? ( 12014522 )
2002
45
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. ( 11935319 )
2002
46
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. ( 11515730 )
2001
47
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. ( 11448939 )
2001
48
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. ( 11297535 )
2001
49
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. ( 10757646 )
2000
50
An imprinted locus associated with transient neonatal diabetes mellitus. ( 10699182 )
2000

Variations for Diabetes Mellitus, Transient Neonatal, 1

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

76
# Symbol AA change Variation ID SNP ID
1 ZFP57 p.Arg166His VAR_054771 rs199589695
2 ZFP57 p.His193Asn VAR_054772 rs78378398
3 ZFP57 p.His374Asp VAR_054773 rs79020217

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFP57 NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter) single nucleotide variant Pathogenic rs61730328 GRCh37 Chromosome 6, 29641105: 29641105
2 ZFP57 NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter) single nucleotide variant Pathogenic rs61730328 GRCh38 Chromosome 6, 29673328: 29673328
3 ZFP57 NM_001109809.2(ZFP57): c.317_318delAG (p.Glu106Valfs) deletion Pathogenic rs606231121 GRCh38 Chromosome 6, 29675420: 29675421
4 ZFP57 NM_001109809.2(ZFP57): c.317_318delAG (p.Glu106Valfs) deletion Pathogenic rs606231121 GRCh37 Chromosome 6, 29643197: 29643198
5 ZFP57 NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs) deletion Pathogenic rs606231122 GRCh38 Chromosome 6, 29672728: 29672728
6 ZFP57 NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs) deletion Pathogenic rs606231122 GRCh37 Chromosome 6, 29640505: 29640505
7 ZFP57 NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp) single nucleotide variant Pathogenic rs79020217 GRCh37 Chromosome 6, 29640516: 29640516
8 ZFP57 NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp) single nucleotide variant Pathogenic rs79020217 GRCh38 Chromosome 6, 29672739: 29672739
9 ZFP57 NM_001109809.2(ZFP57): c.743G> A (p.Arg248His) single nucleotide variant Pathogenic rs77625743 GRCh37 Chromosome 6, 29641145: 29641145
10 ZFP57 NM_001109809.2(ZFP57): c.743G> A (p.Arg248His) single nucleotide variant Pathogenic rs77625743 GRCh38 Chromosome 6, 29673368: 29673368
11 ZFP57 NM_001109809.2(ZFP57): c.829C> A (p.His277Asn) single nucleotide variant Pathogenic rs78378398 GRCh37 Chromosome 6, 29641059: 29641059
12 ZFP57 NM_001109809.2(ZFP57): c.829C> A (p.His277Asn) single nucleotide variant Pathogenic rs78378398 GRCh38 Chromosome 6, 29673282: 29673282
13 ZFP57 NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs) deletion Pathogenic rs606231123 GRCh38 Chromosome 6, 29673206: 29673213
14 ZFP57 NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs) deletion Pathogenic rs606231123 GRCh37 Chromosome 6, 29640983: 29640990
15 ZFP57 NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr) single nucleotide variant Uncertain significance rs1554211826 GRCh38 Chromosome 6, 29673387: 29673387
16 ZFP57 NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr) single nucleotide variant Uncertain significance rs1554211826 GRCh37 Chromosome 6, 29641164: 29641164

Expression for Diabetes Mellitus, Transient Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.

Pathways for Diabetes Mellitus, Transient Neonatal, 1

GO Terms for Diabetes Mellitus, Transient Neonatal, 1

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