DMTN
MCID: TRN032
MIFTS: 46

Transient Neonatal Diabetes Mellitus (DMTN) malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Transient Neonatal Diabetes Mellitus

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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: Transient Neonatal Diabetes Mellitus, also known as diabetes mellitus, transient neonatal, is related to neonatal diabetes mellitus and 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:66 Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is... more...

Description from OMIM:48 601410

Aliases & Classifications for Transient Neonatal Diabetes Mellitus

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 63UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

transient neonatal diabetes mellitus 44
diabetes mellitus, transient neonatal 44 48
chromosome 6-associated transient diabetes mellitus 44
diabetes mellitus, 6q24-related transient neonatal 44
diabetes mellitus, transient neonatal, 1 63
tndm1 44
dmtn 44
tndm 44


Related Diseases for Transient Neonatal Diabetes Mellitus

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal diabetes mellitus31.6PLAGL1, INS, KCNJ11, ABCC8
2diabetes mellitus31.6ABCC8, KCNJ11, IGF1, INS
3diabetes mellitus, 6q24-related transient neonatal31.2HYMAI, PLAGL1
4diabetes mellitus, transient neonatal, 330.7KCNJ11, TNDM
5beckwith-wiedemann syndrome30.4PLAGL1, ZFP57, ABCC8
6permanent neonatal diabetes mellitus30.4INS, ABCC8
7type 1 diabetes mellitus30.4TPO, INS
8maturity-onset diabetes of the young30.1KCNJ11, INS
9macroglossia10.6
10paternal uniparental disomy of chromosome 610.6
11abcc8-related transient neonatal diabetes mellitus 210.4
12diabetes mellitus, transient neonatal 210.4
13diabetes mellitus, kcnj11-related transient neonatal10.3
14laron syndrome10.1IGF1
15diabetes mellitus, permanent neonatal, with neurologic features10.1KCNJ11, TNDM
16diabetes, permanent neonatal10.1KCNJ11, TNDM
17type 2 diabetes mellitus10.1KCNJ11, TNDM
18familial hyperinsulinism10.1ABCC8, KCNJ11
19donohue syndrome10.1INS
20fetal macrosomia10.1INS
21hyperammonemia multi-gene panels10.1ABCC8, KCNJ11
22thyrotropin deficiency, isolated10.0TPO, IGF1
23hyperinsulinemic hypoglycemia10.0ABCC8, INS
24turner syndrome10.0TPO, IGF1
25epilepsy syndrome10.0KCNJ11, ZACN, ABCC8
26rabson-mendenhall syndrome10.0INS, IGF1
27pituitary gland disease10.0IGF1, INS
28acanthosis nigricans10.0INS, IGF1
29anovulation10.0IGF1, INS
30amenorrhea10.0IGF1, INS
31growth hormone deficiency10.0IGF1, INS
32thyrotoxicosis10.0INS, TPO
33hypopituitarism10.0INS, IGF1
34gestational diabetes10.0ABCC8, KCNJ11, INS
35polycystic ovary syndrome10.0IGF1, INS
36insulinoma10.0ABCC8, KCNJ11, INS
37hyperandrogenism10.0INS, IGF1
38glucose intolerance10.0INS, IGF1
39prader-willi syndrome10.0INS, IGF1
40cystic fibrosis10.0ABCC8, INS, KCNJ11
41acromegaly10.0IGF1, INS
42primary hyperoxaluria10.0IGF1, INS
43hypogonadism10.0IGF1, INS
44hyperthyroidism9.9TPO, INS, IGF1
45hypothyroidism9.9INS, TPO, IGF1
46insulin resistance9.9ABCC8, IGF1, INS
47hypoglycemia9.9KCNJ11, IGF1, ABCC8, INS
48hyperinsulinism9.9ABCC8, IGF1, KCNJ11, INS
49diabetic retinopathy9.9INS, IGF1
50obesity9.9IGF1, KCNJ11, ABCC8, INS

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
Sources:
48OMIM
See all sources


Clinical features from OMIM:

601410

Drugs & Therapeutics for Transient Neonatal Diabetes Mellitus

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Transient Neonatal Diabetes Mellitus

Drug clinical trials:

Search ClinicalTrials for Transient Neonatal Diabetes Mellitus

Search NIH Clinical Center for Transient Neonatal Diabetes Mellitus

Search CenterWatch 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
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Transient Neonatal Diabetes Mellitus:

34
Testes

Animal Models for Transient Neonatal Diabetes Mellitus or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Transient Neonatal Diabetes Mellitus:

38
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
Sources:
53PubMed
See all sources

Articles related to Transient Neonatal Diabetes Mellitus:

(show all 47)
idTitleAuthorsYear
1
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. (23385738)
2013
2
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. (23748067)
2013
3
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. (22749773)
2012
4
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. (21738553)
2011
5
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. (22768014)
2011
6
A case of transient neonatal diabetes mellitus. (21131807)
2010
7
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. (20412110)
2010
8
Transient neonatal diabetes mellitus type 1. (20803656)
2010
9
Transient neonatal diabetes mellitus in an extremely preterm infant. (21686427)
2009
10
An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. (19446154)
2009
11
Transient neonatal diabetes mellitus in extremely preterm infant. (18192332)
2008
12
Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. (18486206)
2008
13
Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. (19012334)
2008
14
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. (17366578)
2007
15
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. (17220064)
2006
16
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. (16402210)
2006
17
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
18
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (16816970)
2006
19
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. (15924231)
2005
20
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. (16205880)
2005
21
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
22
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. (15286800)
2004
23
Transient neonatal diabetes mellitus: a patient report. (14513885)
2003
24
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? (12014522)
2002
25
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. (11935319)
2002
26
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. (11448939)
2001
27
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. (11297535)
2001
28
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. (11515730)
2001
29
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. (10757646)
2000
30
An imprinted locus associated with transient neonatal diabetes mellitus. (10699182)
2000
31
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. (10204843)
1999
32
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. (9894800)
1998
33
Transient neonatal diabetes mellitus or an exaggerated steroid response? A case study. (9592462)
1998
34
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. (9450188)
1997
35
Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus. (9296544)
1997
36
Transient neonatal diabetes mellitus and macroglossia. (8866300)
1996
37
Ultralente insulin treatment of transient neonatal diabetes mellitus. (8636827)
1996
38
Transient neonatal diabetes mellitus with ketoacidosis and macroglossia. (17590652)
1995
39
Transient neonatal diabetes mellitus: a relapse after 10 years of complete remission. (7949222)
1994
40
Two interesting cases of transient neonatal diabetes mellitus. (8186824)
1994
41
Transient neonatal diabetes mellitus in a pair of twins. (2741692)
1989
42
Transient neonatal diabetes mellitus. (3235149)
1988
43
Transient neonatal diabetes mellitus in half sisters. A sequel. (7091092)
1982
44
Transient neonatal diabetes mellitus. Treatment with chlorpropamide. (760514)
1979
45
Macroglossia, transient neonatal diabetes mellitus and intrauterine growth failure: a new distinct entity? (1110857)
1975
46
Transient neonatal diabetes mellitus in sibs. (5440211)
1970
47
Transient neonatal diabetes mellitus in half sisters. (6067278)
1967

Variations for Transient Neonatal Diabetes Mellitus

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZFP57NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)single nucleotide variantPathogenicrs61730328GRCh37Chr 6, 29641105: 29641105
2ZFP57NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)single nucleotide variantPathogenicrs79020217GRCh37Chr 6, 29640516: 29640516
3ZFP57NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)single nucleotide variantPathogenicrs77625743GRCh37Chr 6, 29641145: 29641145
4ZFP57NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)single nucleotide variantPathogenicrs78378398GRCh37Chr 6, 29641059: 29641059

Expression for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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
Sources:
51PathCards, 52PharmGKB, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 31KEGG
See all sources

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
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 3BitterDB
See all sources

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

(show all 47)
idCompoundScoreTop Affiliating Genes
1cibenzoline4610.2ABCC8, KCNJ11
2nicorandil46 3011.2ABCC8, KCNJ11
3mgadp4610.2KCNJ11, ABCC8
4cromakalim46 3011.2KCNJ11, ABCC8
5minoxidil46 30 1212.2KCNJ11, ABCC8
6meglitinide4610.1INS, ABCC8
7mitiglinide46 1211.1INS, ABCC8
8glipizide46 52 1212.0INS, ABCC8
9chlorpropamide46 52 1212.0INS, ABCC8
10nateglinide46 52 1212.0ABCC8, INS
11mecasermin46 1210.9IGF1, INS
12oxandrolone46 1210.9IGF1, INS
13p1075629.9KCNJ11, TNDM
14levcromakalim629.9KCNJ11, TNDM
15tertiapin-q629.9KCNJ11, TNDM
16acipimox46 3010.8INS, IGF1
17repaglinide52 46 1211.8ABCC8, KCNJ11, INS
18gliclazide46 52 1211.8INS, KCNJ11, ABCC8
19glimepiride46 52 1211.8INS, KCNJ11, ABCC8
20sulfonylurea469.8ABCC8, KCNJ11, INS
21katp469.8INS, KCNJ11, ABCC8
22tolbutamide46 30 52 1212.8INS, KCNJ11, ABCC8
23clomiphene citrate469.8INS, IGF1
24cortisone46 2510.8INS, IGF1
25starch469.7IGF1, INS
26pip2469.7KCNJ11, ABCC8
27niacin46 1210.7IGF1, INS
28methimazole46 3 1211.7IGF1, TPO
29aicar46 25 1211.7IGF1, INS
30dehydroepiandrosterone sulfate469.6INS, IGF1
31octreotide46 62 30 1212.6PLAGL1, INS, IGF1
322-deoxyglucose46 1210.5IGF1, INS
33dhea469.5INS, IGF1
34hydrocortisone46 3 62 1212.4IGF1, INS, TPO
35thyroxine46 2510.4TPO, INS, IGF1
36potassium46 25 1211.4ZACN, TPO, KCNJ11, ABCC8
37acth469.4TPO, INS, IGF1
38metformin46 52 1211.3ABCC8, IGF1, KCNJ11, INS
39c-peptide469.2IGF1, KCNJ11, INS, TPO
40diazoxide46 62 30 1212.2TNDM, INS, KCNJ11, ABCC8
41glibenclamide46 30 52 6212.2ABCC8, KCNJ11, INS, TNDM
42glutamate469.2TPO, INS, KCNJ11, ABCC8
43lysine469.1TPO, KCNJ11, ABCC8
44cholesterol46 30 25 1212.0ABCC8, IGF1, INS, TPO
45glucose468.9ABCC8, IGF1, KCNJ11, INS
46testosterone46 62 25 1211.9ABCC8, IGF1, INS, TPO, PLAGL1
47arginine468.8ABCC8, IGF1, KCNJ11, INS, TPO

GO Terms for genes affiliated with Transient Neonatal Diabetes Mellitus

About this section
Sources:
17Gene Ontology
See all sources

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
  • Antibodies

Sources for Transient Neonatal Diabetes Mellitus

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet