DMTN
MCID: TRN032
MIFTS: 41

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 52 58 36 15
Diabetes Mellitus, Transient Neonatal 52 39
Tndm 52 58
Chromosome 6-Associated Transient Diabetes Mellitus 52
Diabetes Mellitus, 6q24-Related Transient Neonatal 52
Neonatal Diabetes Mellitus, Transient 74
Tndm1 52
Dmtn 52

Characteristics:

Orphanet epidemiological data:

58
transient neonatal diabetes mellitus
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Transient Neonatal Diabetes Mellitus

NIH Rare Diseases : 52 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, transient neonatal, 1. An important gene associated with Transient Neonatal Diabetes Mellitus is HYMAI (Hydatidiform Mole Associated And Imprinted), and among its related pathways/superpathways are Integration of energy metabolism and Type II diabetes mellitus. 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 : 36 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 : 74 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 94)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, 6q24-related transient neonatal 34.9 ZFP57 PLAGL1 HYMAI
2 diabetes mellitus, transient neonatal, 1 34.5 ZFP57 PLAGL1
3 diabetes mellitus, permanent neonatal 1 33.5 KCNJ11 INS ABCC8
4 neonatal diabetes mellitus 32.1 ZFP57 WDR20 TNDM SNRPN PLAGL1 PEG3
5 paternal uniparental disomy 31.6 TNDM GNAS
6 diabetes mellitus 31.6 ZFP57 TNDM PLAGL1 KCNJ11 INS HYMAI
7 paternal uniparental disomy of chromosome 6 31.5 TNDM PLAGL1 HYMAI
8 macroglossia 31.4 TNDM CDKN1C
9 diabetes mellitus, permanent neonatal 4 31.1 KCNJ11 INS HYMAI GLIS3 ABCC8
10 monogenic diabetes 31.1 KCNJ11 INS ABCC8
11 umbilical hernia 30.9 WDR20 PLAGL1 KCNQ1OT1 HYMAI CDKN1C ABCC8
12 diabetes mellitus, ketosis-prone 30.8 KCNJ11 INS ABCC8
13 maturity-onset diabetes of the young 30.5 ZFP57 KCNJ11 INS H2AC18 GLIS3 ABCC8
14 beckwith-wiedemann syndrome 29.4 ZFP57 WDR20 SNRPN PLAGL1 PEG3 MEST
15 diabetes mellitus, transient neonatal, 3 12.5
16 diabetes mellitus, transient neonatal, 2 12.3
17 prostate cancer 11.5
18 malaria 11.4
19 hypotrichosis 11.4
20 hereditary spherocytosis 11.3
21 rigid spine muscular dystrophy 1 11.2
22 autoimmune disease of central nervous system 11.2
23 dissociative disorder 11.2
24 depersonalization disorder 11.2
25 hallucinogen abuse 11.2
26 progressive multifocal leukoencephalopathy 11.2
27 munchausen by proxy 10.7 KCNJ11 ABCC8
28 maturity-onset diabetes of the young, type 11 10.6 KCNJ11 ABCC8
29 acute insulin response 10.6 KCNJ11 INS ABCC8
30 maturity-onset diabetes of the young, type 1 10.6 KCNJ11 INS ABCC8
31 maturity-onset diabetes of the young, type 10 10.6 KCNJ11 INS ABCC8
32 asphyxia neonatorum 10.6 KCNJ11 INS ABCC8
33 maturity-onset diabetes of the young, type 4 10.6 KCNJ11 INS ABCC8
34 maturity-onset diabetes of the young, type 2 10.6 KCNJ11 INS ABCC8
35 disorders of gnas inactivation 10.6 GNAS-AS1 GNAS
36 maturity-onset diabetes of the young, type 3 10.6 KCNJ11 INS ABCC8
37 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.6 KCNJ11 ABCC8
38 trophoblastic neoplasm 10.6 PLAGL1 HYMAI CDKN1C
39 pancreatic agenesis 10.6 KCNJ11 INS ABCC8
40 maturity-onset diabetes of the young, type 13 10.6 KCNJ11 ABCC8
41 hemihyperplasia, isolated 10.6 KCNQ1OT1 CDKN1C
42 hyperinsulinemic hypoglycemia, familial, 7 10.6 KCNJ11 ABCC8
43 ulcer of lower limbs 10.6 WDR20 INS
44 hyperinsulinemic hypoglycemia, familial, 1 10.6 LOC110121471 KCNJ11 H2AC18 ABCC8
45 hyperinsulinemic hypoglycemia 10.6 KCNJ11 INS H2AC18 ABCC8
46 hyperglycemia 10.6
47 hyperinsulinemic hypoglycemia, familial, 2 10.6 KCNJ11 INS H2AC18 ABCC8
48 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.6 KCNJ11 INS GLIS3 ABCC8
49 maturity-onset diabetes of the young, type 7 10.6 KCNJ11 ABCC8
50 adult syndrome 10.6 WDR20 INS H2AC18

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:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 hyperglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003074
6 glycosuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003076
7 transient neonatal diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0008255
8 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
9 abnormality of the pancreatic islet cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0006476
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
14 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
15 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
16 ketonuria 58 31 frequent (33%) Frequent (79-30%) HP:0002919
17 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
18 contractures of the joints of the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0005750
19 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
20 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
21 renal tubular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000124
22 steatorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002570
23 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
24 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
25 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
26 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
27 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
28 seizures 58 Occasional (29-5%)
29 generalized myoclonic seizures 58 Occasional (29-5%)
30 neurodevelopmental delay 58 Frequent (79-30%)
31 abnormality of the upper urinary tract 58 Occasional (29-5%)
32 generalized tonic-clonic seizures 58 Occasional (29-5%)
33 autoimmune antibody positivity 58 Excluded (0%)

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:

40
Heart, Pancreatic Islet, Testes, Pancreas, Skeletal Muscle, Placenta

Publications for Transient Neonatal Diabetes Mellitus

Articles related to Transient Neonatal Diabetes Mellitus:

(show top 50) (show all 205)
# Title Authors PMID Year
1
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. 61 6
18197189 2008
2
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. 6 61
16205880 2005
3
Diabetes Mellitus, 6q24-Related Transient Neonatal 61 6
20301706 2005
4
Relapsing diabetes can result from moderately activating mutations in KCNJ11. 6 61
15718250 2005
5
An imprinted locus associated with transient neonatal diabetes mellitus. 61 6
10699182 2000
6
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 6
18622393 2008
7
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 6
18025464 2007
8
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 6
16885549 2006
9
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. 6
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. 6
15784703 2005
11
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 6
15583126 2004
12
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 6
12524280 2003
13
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study. 61
32273272 2020
14
Duplication 6q24: More Than Just Diabetes. 61
32373772 2020
15
Congenital diabetes mellitus. 61
32274916 2020
16
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China. 61
32279225 2020
17
Management of a case of transient neonatal diabetes mellitus using continuous glucose monitoring. 61
32313376 2020
18
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 61
31186545 2019
19
A Triplication of 6q24 and Meconium Pseudocyst: A Case Report. 61
31712397 2019
20
Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. 61
30897598 2019
21
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. 61
30315371 2019
22
Monogenic Forms of Diabetes Mellitus. 61
31588541 2019
23
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. 61
29504184 2018
24
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 61
29896734 2018
25
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. 61
29696471 2018
26
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes 61
28943514 2018
27
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 61
29116606 2018
28
Chromosome 6q24-related diabetes mellitus. 61
29662264 2018
29
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. 61
29675256 2018
30
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. 61
29527407 2018
31
Maternal fertility problems and risk for transient neonatal diabetes mellitus. 61
28707511 2017
32
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 61
29048742 2017
33
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan. 61
27681997 2017
34
Identification of Plagl1/Zac1 binding sites and target genes establishes its role in the regulation of extracellular matrix genes and the imprinted gene network. 61
28985358 2017
35
Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. 61
28764822 2017
36
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. 61
28350539 2017
37
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. 61
28347637 2017
38
Epidemiology, clinical characteristics, and genetic etiology of neonatal diabetes in Japan. 61
27809389 2017
39
A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes. 61
28957425 2017
40
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. 61
28804207 2017
41
Type 1 diabetes mellitus presenting with diabetic ketoacidosis (DKA) in a neonate. 61
27524542 2016
42
Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea. 61
27329029 2016
43
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. 61
26894574 2016
44
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. 61
27075368 2016
45
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. 61
26463504 2016
46
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. 61
25977574 2016
47
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China. 61
26839896 2016
48
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. 61
26631065 2015
49
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. 61
26322169 2015
50
Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. 61
25809823 2015

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

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 phosphorylation GO:0042326 9.16 GRB10 CDKN1C
2 regulation of insulin secretion GO:0050796 9.13 KCNJ11 GNAS ABCC8
3 inorganic cation transmembrane transport GO:0098662 8.62 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 9.16 KCNJ11 ABCC8
2 insulin-like growth factor receptor binding GO:0005159 8.96 INS GNAS
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....