DMTN
MCID: TRN032
MIFTS: 46

Transient Neonatal Diabetes Mellitus (DMTN) malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories
Download this MalaCard

Summaries for Transient Neonatal Diabetes Mellitus

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Transient neonatal diabetes mellitus (tndb) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. these cases are referred to as 6q24-related tndb; most (but not all) of these cases are not inherited. other genetic causes include mutations in the kcnj11 and abcc8 genes, which usually cause permanent neonatal diabetes. treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin. last updated: 8/28/2012

MalaCards based summary: Transient Neonatal Diabetes Mellitus, also known as diabetes mellitus, transient neonatal, is related to diabetes mellitus, 6q24-related transient neonatal and neonatal diabetes mellitus. An important gene associated with Transient Neonatal Diabetes Mellitus is ZFP57 (ZFP57 zinc finger protein), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Development Leptin signaling via PI3K dependent pathway. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Wikipedia:65 Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is... more...

Description from OMIM:46 601410

Aliases & Classifications for Transient Neonatal Diabetes Mellitus

About this section

Transient Neonatal Diabetes Mellitus, Aliases & Descriptions:

Name: Transient Neonatal Diabetes Mellitus 42 62
Diabetes Mellitus, Transient Neonatal 42 46
Tndm 42 62
Chromosome 6-Associated Transient Diabetes Mellitus 42
 
Diabetes Mellitus, 6q24-Related Transient Neonatal 42
Diabetes Mellitus, Transient Neonatal, 1 62
Tndm1 42
Dmtn 42


Classifications:



Related Diseases for Transient Neonatal Diabetes Mellitus

About this section

Diseases in the Diabetes Mellitus, 6q24-Related Transient Neonatal family:

Neonatal Diabetes Mellitus transient neonatal diabetes mellitus
Diabetes Mellitus, Kcnj11-Related Transient Neonatal Abcc8-Related Transient Neonatal Diabetes Mellitus 2
Diabetes Mellitus, Transient Neonatal 2 Diabetes Mellitus, Transient Neonatal, 3

Diseases related to Transient Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, 6q24-related transient neonatal31.7HYMAI, PLAGL1
2neonatal diabetes mellitus31.5PLAGL1, INS, KCNJ11, ABCC8
3diabetes mellitus31.4ABCC8, KCNJ11, IGF1, INS
4diabetes mellitus, transient neonatal, 331.2KCNJ11, TNDM
5beckwith-wiedemann syndrome30.7PLAGL1, ZFP57, ABCC8
6permanent neonatal diabetes mellitus30.6INS, ABCC8
7type 1 diabetes mellitus30.3TPO, INS
8macroglossia10.6
9paternal uniparental disomy of chromosome 610.6
10abcc8-related transient neonatal diabetes mellitus 210.4
11diabetes mellitus, transient neonatal 210.4
12laron syndrome10.4IGF1
13diabetes mellitus, permanent neonatal, with neurologic features10.4KCNJ11, TNDM
14type 2 diabetes mellitus10.4KCNJ11, TNDM
15familial hyperinsulinism10.4ABCC8, KCNJ11
16donohue syndrome10.3INS
17fetal macrosomia10.3INS
18hyperammonemia multi-gene panels10.3ABCC8, KCNJ11
19diabetes mellitus, kcnj11-related transient neonatal10.3
20thyrotropin deficiency, isolated10.1TPO, IGF1
21maturity-onset diabetes of the young10.1KCNJ11, INS
22hyperinsulinemic hypoglycemia10.1ABCC8, INS
23turner syndrome10.1TPO, IGF1
24epilepsy syndrome10.1KCNJ11, ZACN, ABCC8
25rabson-mendenhall syndrome10.1INS, IGF1
26pituitary gland disease10.0IGF1, INS
27acanthosis nigricans10.0INS, IGF1
28anovulation10.0IGF1, INS
29amenorrhea10.0IGF1, INS
30growth hormone deficiency10.0IGF1, INS
31thyrotoxicosis10.0INS, TPO
32hypopituitarism10.0INS, IGF1
33gestational diabetes10.0ABCC8, KCNJ11, INS
34polycystic ovary syndrome10.0IGF1, INS
35insulinoma10.0ABCC8, KCNJ11, INS
36hyperandrogenism10.0INS, IGF1
37glucose intolerance9.9INS, IGF1
38prader-willi syndrome9.9INS, IGF1
39cystic fibrosis9.9ABCC8, INS, KCNJ11
40acromegaly9.9IGF1, INS
41primary hyperoxaluria9.9IGF1, INS
42hypogonadism9.8IGF1, INS
43hyperthyroidism9.8TPO, INS, IGF1
44hypothyroidism9.8INS, TPO, IGF1
45insulin resistance9.8ABCC8, IGF1, INS
46hypoglycemia9.8KCNJ11, IGF1, ABCC8, INS
47hyperinsulinism9.8ABCC8, IGF1, KCNJ11, INS
48diabetic retinopathy9.8INS, IGF1
49obesity9.7IGF1, KCNJ11, ABCC8, INS
50adenoma9.6PLAGL1, INS, IGF1, TPO

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



Diseases related to transient neonatal diabetes mellitus

Symptoms for Transient Neonatal Diabetes Mellitus

About this section


Clinical features from OMIM:

601410

Drugs & Therapeutics for Transient Neonatal Diabetes Mellitus

About this section

Drug clinical trials:

Search ClinicalTrials for Transient Neonatal Diabetes Mellitus

Search NIH Clinical Center for Transient Neonatal Diabetes Mellitus

Genetic Tests for Transient Neonatal Diabetes Mellitus

About this section

Anatomical Context for Transient Neonatal Diabetes Mellitus

About this section

MalaCards organs/tissues related to Transient Neonatal Diabetes Mellitus:

32
Testes

Animal Models for Transient Neonatal Diabetes Mellitus or affiliated genes

About this section

MGI Mouse Phenotypes related to Transient Neonatal Diabetes Mellitus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1PLAGL1, INS, KCNJ11, ABCC8
2MP:00053798.1TPO, INS, KCNJ11, IGF1, ABCC8

Publications for Transient Neonatal Diabetes Mellitus

About this section

Articles related to Transient Neonatal Diabetes Mellitus:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. (24859512)
2014
2
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. (24569603)
2014
3
Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. (24552466)
2014
4
6q24 transient neonatal diabetes mellitus: the first case report from China. (25316252)
2014
5
Insulin pump therapy in transient neonatal diabetes mellitus. (24904869)
2013
6
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. (23385738)
2013
7
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. (23748067)
2013
8
Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. (22547676)
2012
9
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. (22749773)
2012
10
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (21738553)
2011
11
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. (22768014)
2011
12
A case of transient neonatal diabetes mellitus. (21131807)
2010
13
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. (20412110)
2010
14
Transient neonatal diabetes mellitus type 1. (20803656)
2010
15
Transient neonatal diabetes mellitus in an extremely preterm infant. (21686427)
2009
16
An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. (19446154)
2009
17
Transient neonatal diabetes mellitus in extremely preterm infant. (18192332)
2008
18
Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. (18486206)
2008
19
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. (17366578)
2007
20
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. (17220064)
2006
21
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. (16402210)
2006
22
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
23
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. (15924231)
2005
24
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. (16205880)
2005
25
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
26
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. (15286800)
2004
27
Transient neonatal diabetes mellitus: a patient report. (14513885)
2003
28
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? (12014522)
2002
29
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. (11935319)
2002
30
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. (11448939)
2001
31
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. (11297535)
2001
32
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. (11515730)
2001
33
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. (10757646)
2000
34
An imprinted locus associated with transient neonatal diabetes mellitus. (10699182)
2000
35
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. (10204843)
1999
36
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. (9894800)
1998
37
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. (9450188)
1997
38
Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus. (9296544)
1997
39
Transient neonatal diabetes mellitus and macroglossia. (8866300)
1996
40
Ultralente insulin treatment of transient neonatal diabetes mellitus. (8636827)
1996
41
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
42
Transient neonatal diabetes mellitus: a relapse after 10 years of complete remission. (7949222)
1994
43
Two interesting cases of transient neonatal diabetes mellitus. (8186824)
1994
44
Transient neonatal diabetes mellitus in a pair of twins. (2741692)
1989
45
Transient neonatal diabetes mellitus. (3235149)
1988
46
Transient neonatal diabetes mellitus in half sisters. A sequel. (7091092)
1982
47
Transient neonatal diabetes mellitus. Treatment with chlorpropamide. (760514)
1979
48
Macroglossia, transient neonatal diabetes mellitus and intrauterine growth failure: a new distinct entity? (1110857)
1975
49
Transient neonatal diabetes mellitus in sibs. (5440211)
1970
50
Transient neonatal diabetes mellitus in half sisters. (6067278)
1967

Variations for Transient Neonatal Diabetes Mellitus

About this section

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

64
id Symbol AA change Variation ID SNP ID
1ZFP57p.Arg166HisVAR_054771
2ZFP57p.His193AsnVAR_054772
3ZFP57p.His374AspVAR_054773

Clinvar genetic disease variations for Transient Neonatal Diabetes Mellitus:

6
id Gene Name Type Significance SNP ID Assembly Location
1ZFP57NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)single nucleotide variantPathogenicrs61730328GRCh37Chr 6, 29641105: 29641105
2ZFP57ZFP57, 2-BP DEL, 257AGdeletionPathogenic
3ZFP57ZFP57, 1-BP DEL, 1323CdeletionPathogenic
4ZFP57NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)single nucleotide variantPathogenicrs79020217GRCh37Chr 6, 29640516: 29640516
5ZFP57NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)single nucleotide variantPathogenicrs77625743GRCh37Chr 6, 29641145: 29641145
6ZFP57NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)single nucleotide variantPathogenicrs78378398GRCh37Chr 6, 29641059: 29641059
7ZFP57ZFP57, 8-BP DEL, NT838deletionPathogenic

Expression for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section
Expression patterns in normal tissues for genes affiliated with Transient Neonatal Diabetes Mellitus

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

Pathways for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section

Pathways related to Transient Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNJ11, ABCC8
29.8KCNJ11, ABCC8
3
Show member pathways
9.8KCNJ11, ABCC8
49.5INS, IGF1
59.5INS, IGF1
69.5IGF1, INS
79.4ABCC8, KCNJ11, INS
8
Show member pathways
9.4INS, KCNJ11, ABCC8
9
Show member pathways
9.4ABCC8, KCNJ11, INS
10
Show member pathways
8.9TPO, INS, KCNJ11, ABCC8

Compounds for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section

Compounds related to Transient Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.2ABCC8, KCNJ11
2nicorandil44 2811.2ABCC8, KCNJ11
3mgadp4410.2KCNJ11, ABCC8
4cromakalim44 2811.2KCNJ11, ABCC8
5minoxidil44 28 1112.2KCNJ11, ABCC8
6meglitinide4410.1INS, ABCC8
7mitiglinide44 1111.1INS, ABCC8
8glipizide44 50 1112.0INS, ABCC8
9chlorpropamide44 50 1112.0INS, ABCC8
10nateglinide44 50 1112.0ABCC8, INS
11mecasermin44 1110.9IGF1, INS
12oxandrolone44 1110.9IGF1, INS
13p1075619.9KCNJ11, TNDM
14levcromakalim619.9KCNJ11, TNDM
15tertiapin-q619.9KCNJ11, TNDM
16acipimox44 2810.8INS, IGF1
17repaglinide50 44 1111.8ABCC8, KCNJ11, INS
18gliclazide44 50 1111.8INS, KCNJ11, ABCC8
19glimepiride44 50 1111.8INS, KCNJ11, ABCC8
20sulfonylurea449.8ABCC8, KCNJ11, INS
21katp449.8INS, KCNJ11, ABCC8
22tolbutamide44 28 50 1112.8INS, KCNJ11, ABCC8
23clomiphene citrate449.8INS, IGF1
24cortisone44 2410.8INS, IGF1
25starch449.7IGF1, INS
26pip2449.7KCNJ11, ABCC8
27niacin44 1110.7IGF1, INS
28methimazole44 2 1111.7IGF1, TPO
29aicar44 24 1111.7IGF1, INS
30dehydroepiandrosterone sulfate449.6INS, IGF1
31octreotide44 61 28 1112.6PLAGL1, INS, IGF1
322-deoxyglucose44 1110.5IGF1, INS
33dhea449.5INS, IGF1
34hydrocortisone44 2 61 1112.4IGF1, INS, TPO
35thyroxine44 2410.4TPO, INS, IGF1
36potassium44 24 1111.4ZACN, TPO, KCNJ11, ABCC8
37acth449.4TPO, INS, IGF1
38metformin44 50 1111.3ABCC8, IGF1, KCNJ11, INS
39c-peptide449.2IGF1, KCNJ11, INS, TPO
40diazoxide44 61 28 1112.2TNDM, INS, KCNJ11, ABCC8
41glibenclamide44 28 50 6112.2ABCC8, KCNJ11, INS, TNDM
42glutamate449.2TPO, INS, KCNJ11, ABCC8
43lysine449.1TPO, KCNJ11, ABCC8
44cholesterol44 28 24 1112.0ABCC8, IGF1, INS, TPO
45glucose448.9ABCC8, IGF1, KCNJ11, INS
46testosterone44 61 24 1111.9ABCC8, IGF1, INS, TPO, PLAGL1
47arginine448.8ABCC8, IGF1, KCNJ11, INS, TPO

GO Terms for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section

Cellular components related to Transient Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.8KCNJ11, ABCC8

Biological processes related to Transient Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.8ABCC8, KCNJ11
2positive regulation of glycolytic processGO:0458219.7IGF1, INS
3positive regulation of glycogen biosynthetic processGO:0457259.7INS, IGF1
4positive regulation of glucose importGO:0463269.7INS, IGF1
5positive regulation of mitosisGO:0458409.6IGF1, INS
6positive regulation of DNA replicationGO:0457409.6INS, IGF1
7regulation of insulin secretionGO:0507969.6INS, KCNJ11, ABCC8
8energy reserve metabolic processGO:0061129.6INS, KCNJ11, ABCC8
9positive regulation of phosphatidylinositol 3-kinase signalingGO:0140689.6INS, IGF1
10positive regulation of protein kinase B signalingGO:0518979.5INS, IGF1
11positive regulation of MAPK cascadeGO:0434109.4INS, IGF1
12positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.2INS, IGF1

Molecular functions related to Transient Neonatal Diabetes Mellitus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.8KCNJ11, ABCC8
2insulin-like growth factor receptor bindingGO:0051599.4INS, IGF1
3insulin receptor bindingGO:0051589.2INS, IGF1

Products for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Transient Neonatal Diabetes Mellitus

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet