DMTN
MCID: TRN032
MIFTS: 40

Transient Neonatal Diabetes Mellitus (DMTN)

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

Aliases & Classifications for Transient Neonatal Diabetes Mellitus

MalaCards integrated aliases for Transient Neonatal Diabetes Mellitus:

Name: Transient Neonatal Diabetes Mellitus 12 53 59 37 15
Diabetes Mellitus, Transient Neonatal 53 40
Tndm 53 59
Chromosome 6-Associated Transient Diabetes Mellitus 53
Diabetes Mellitus, 6q24-Related Transient Neonatal 53
Neonatal Diabetes Mellitus, Transient 75
Tndm1 53
Dmtn 53

Characteristics:

Orphanet epidemiological data:

59
transient neonatal diabetes mellitus
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0060334
KEGG 37 H00513
ICD10 33 P70.2
ICD10 via Orphanet 34 P70.2
UMLS via Orphanet 73 C1832386
Orphanet 59 ORPHA99886

Summaries for Transient Neonatal Diabetes Mellitus

NIH Rare Diseases : 53 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.

MalaCards based summary : Transient Neonatal Diabetes Mellitus, also known as diabetes mellitus, transient neonatal, is related to diabetes mellitus, 6q24-related transient neonatal and diabetes mellitus, permanent neonatal. An important gene associated with Transient Neonatal Diabetes Mellitus is HYMAI (Hydatidiform Mole Associated And Imprinted), and among its related pathways/superpathways are Type II diabetes mellitus and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include heart, pancreatic islet and testes, and related phenotypes are failure to thrive and dehydration

Disease Ontology : 12 A neonatal diabetes mellitus characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.

KEGG : 37
Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). TNDM is a developmental disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes, PLAGL1 and HYMAI, on chromosome 6q24. Hypomethylation of multiple imprinted loci is associated with mutations in ZFP57. Mutations in ABCC8 and KCNJ11 encoding Kir6.2 and SUR1 are other genetic causes of TNDM.

Wikipedia : 75 Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes presenting at birth that is... more...

Related Diseases for Transient Neonatal Diabetes Mellitus

Diseases in the Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal, 2
Diabetes Mellitus, Transient Neonatal, 3 Transient Neonatal Diabetes Mellitus
Diabetes Mellitus, 6q24-Related Transient Neonatal

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 34.6 ZFP57 PLAGL1 HYMAI
2 diabetes mellitus, permanent neonatal 32.7 PTF1A KCNJ11 INS ABCC8
3 neonatal diabetes mellitus 31.6 ZFP57 TNDM PTF1A PLAGL1 KCNJ11 INS
4 paternal uniparental disomy of chromosome 6 31.2 TNDM PLAGL1 HYMAI
5 hyperglycemia 31.1 KCNJ11 INS ABCC8
6 hypoglycemia 31.1 KCNJ11 INS ABCC8
7 monogenic diabetes 30.8 KCNJ11 INS ABCC8
8 maturity-onset diabetes of the young 30.6 KCNJ11 INS ABCC8
9 hyperinsulinism 30.4 KCNJ11 INS ABCC8
10 diabetes mellitus 29.9 ZFP57 TNDM PTF1A PLAGL1 KCNJ11 INS
11 beckwith-wiedemann syndrome 29.3 ZFP57 PLAGL1 NLRP2 KCNQ1OT1 INS ABCC8
12 diabetes mellitus, transient neonatal, 1 29.2 ZFP57 ZC2HC1B PLAGL1 PEG3 NLRP2 MEST
13 diabetes mellitus, transient neonatal, 3 12.5
14 diabetes mellitus, transient neonatal, 2 12.3
15 malaria 11.4
16 hereditary spherocytosis 11.3
17 hypotrichosis 11.3
18 hypogonadotropic hypogonadism 20 with or without anosmia 11.2
19 autoimmune disease of central nervous system 11.2
20 depersonalization disorder 11.2
21 munchausen by proxy 10.6 KCNJ11 ABCC8
22 cardiomyopathy, dilated, 1o 10.6 KCNJ11 ABCC8
23 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.5 KCNJ11 ABCC8
24 hirata disease 10.5 INS ABCC8
25 acute insulin response 10.5 KCNJ11 INS ABCC8
26 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 INS ABCC8
27 endocrine pancreas disease 10.4 KCNJ11 INS ABCC8
28 insulinomatosis and diabetes mellitus 10.4 INS ABCC8
29 paternal uniparental disomy 10.4
30 thiamine-responsive megaloblastic anemia syndrome 10.4 KCNJ11 INS ABCC8
31 hyperinsulinemic hypoglycemia 10.4 KCNJ11 INS ABCC8
32 taylor's syndrome 10.4 KCNJ11 DNMT3L
33 glucose metabolism disease 10.4 KCNJ11 INS ABCC8
34 acquired metabolic disease 10.4 KCNJ11 INS ABCC8
35 macroglossia 10.4
36 usher syndrome, type ic 10.4 KCNJ11 ABCC8
37 fanconi-bickel syndrome 10.4 INS ABCC8
38 uniparental disomy of chromosome 6 10.3
39 maturity-onset diabetes of the young, type 10 10.3 KCNJ11 INS
40 branchiootic syndrome 1 10.3
41 hypotonia 10.3
42 umbilical hernia 10.2
43 silver-russell syndrome 10.1 ZFP57 MEST KCNQ1OT1
44 insulin-like growth factor i 10.1
45 cantu syndrome 10.1 KCNJ11 ABCC8
46 pancreatic agenesis 10.0 PTF1A KCNJ11 INS ABCC8
47 pancreas disease 10.0 PTF1A KCNJ11 INS ABCC8
48 arts syndrome 10.0 MEST KCNQ1OT1
49 hypertelorism 9.9
50 nondisjunction 9.9

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



Diseases related to Transient Neonatal Diabetes Mellitus

Symptoms & Phenotypes for Transient Neonatal Diabetes Mellitus

Human phenotypes related to Transient Neonatal Diabetes Mellitus:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
3 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
4 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
5 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
6 glycosuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003076
7 hyperglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003074
8 transient neonatal diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0008255
9 abnormality of the pancreatic islet cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0006476
10 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
11 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
12 arthrogryposis multiplex congenita 59 32 frequent (33%) Frequent (79-30%) HP:0002804
13 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
14 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
15 prominent metopic ridge 59 32 frequent (33%) Frequent (79-30%) HP:0005487
16 ketonuria 59 32 frequent (33%) Frequent (79-30%) HP:0002919
17 bilateral ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0001488
18 contractures of the joints of the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0005750
19 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
20 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
21 renal tubular dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000124
22 generalized myoclonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002123
23 generalized tonic-clonic seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002069
24 apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002186
25 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
26 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
27 steatorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002570
28 seizures 59 Occasional (29-5%)
29 neurodevelopmental delay 59 Frequent (79-30%)
30 abnormality of the upper urinary tract 59 Occasional (29-5%)
31 autoimmune antibody positivity 59 Excluded (0%)

MGI Mouse Phenotypes related to Transient Neonatal Diabetes Mellitus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.1 ABCC8 INS KCNJ11 PLAGL1 PTF1A RASGRF1

Drugs & Therapeutics for Transient Neonatal Diabetes Mellitus

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

Genetic Tests for Transient Neonatal Diabetes Mellitus

Anatomical Context for Transient Neonatal Diabetes Mellitus

MalaCards organs/tissues related to Transient Neonatal Diabetes Mellitus:

41
Heart, Pancreatic Islet, Testes, Pancreas, Placenta, Skeletal Muscle

Publications for Transient Neonatal Diabetes Mellitus

Articles related to Transient Neonatal Diabetes Mellitus:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. 38 71
18197189 2008
2
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. 38 71
16205880 2005
3
Diabetes Mellitus, 6q24-Related Transient Neonatal 38 71
20301706 2005
4
Relapsing diabetes can result from moderately activating mutations in KCNJ11. 38 71
15718250 2005
5
An imprinted locus associated with transient neonatal diabetes mellitus. 38 71
10699182 2000
6
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 71
18622393 2008
7
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 71
18025464 2007
8
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 71
16885549 2006
9
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. 71
16670688 2006
10
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. 71
15784703 2005
11
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 71
15583126 2004
12
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 71
15115830 2004
13
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 71
12524280 2003
14
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 38
31186545 2019
15
Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. 38
30897598 2019
16
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. 38
30315371 2019
17
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 38
29896734 2018
18
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. 38
29696471 2018
19
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes 38
28943514 2018
20
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. 38
29504184 2018
21
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 38
29116606 2018
22
Chromosome 6q24-related diabetes mellitus. 38
29662264 2018
23
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. 38
29675256 2018
24
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. 38
29527407 2018
25
Maternal fertility problems and risk for transient neonatal diabetes mellitus. 38
28707511 2017
26
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 38
29048742 2017
27
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan. 38
27681997 2017
28
Identification of Plagl1/Zac1 binding sites and target genes establishes its role in the regulation of extracellular matrix genes and the imprinted gene network. 38
28985358 2017
29
Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. 38
28764822 2017
30
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. 38
28347637 2017
31
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. 38
28350539 2017
32
Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan. 38
27809389 2017
33
A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes. 38
28957425 2017
34
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. 38
28804207 2017
35
Type 1 diabetes mellitus presenting with diabetic ketoacidosis (DKA) in a neonate. 38
27524542 2016
36
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea. 38
27329029 2016
37
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. 38
26894574 2016
38
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. 38
27075368 2016
39
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. 38
26463504 2016
40
Age-adjusted glycated albumin accurately reflects blood glucose in patients with neonatal diabetes mellitus: comparison with calculated glycated albumin determined by past blood glucose concentrations. 38
25977574 2016
41
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China. 38
26839896 2016
42
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. 38
26631065 2015
43
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. 38
26322169 2015
44
Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. 38
25809823 2015
45
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. 38
25755231 2015
46
Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants. 38
25998132 2015
47
Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. 38
26576310 2015
48
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. 38
26315042 2015
49
Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience. 38
25437016 2014
50
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. 38
25306193 2014

Variations for Transient Neonatal Diabetes Mellitus

Expression for Transient Neonatal Diabetes Mellitus

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

Pathways for Transient Neonatal Diabetes Mellitus

Pathways related to Transient Neonatal Diabetes Mellitus according to KEGG:

37
# Name Kegg Source Accession
1 Type II diabetes mellitus hsa04930

Pathways related to Transient Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 KCNJ11 INS ABCC8
2 10.44 KCNJ11 INS ABCC8

GO Terms for Transient Neonatal Diabetes Mellitus

Cellular components related to Transient Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Transient Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of insulin secretion GO:0046676 8.96 KCNJ11 ABCC8
2 regulation of gene expression by genetic imprinting GO:0006349 8.62 ZFP57 DNMT3L

Molecular functions related to Transient Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-activated inward rectifier potassium channel activity GO:0015272 8.32 KCNJ11

Sources for Transient Neonatal Diabetes Mellitus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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