DMTN
MCID: TRN032
MIFTS: 50

Transient Neonatal Diabetes Mellitus (DMTN)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Transient Neonatal Diabetes Mellitus

MalaCards integrated aliases for Transient Neonatal Diabetes Mellitus:

Name: Transient Neonatal Diabetes Mellitus 11 19 58 5 14 33
Diabetes Mellitus, Transient Neonatal 19 5
Tndm 19 58
Chromosome 6-Associated Transient Diabetes Mellitus 19
Diabetes Mellitus, 6q24-Related Transient Neonatal 19
Tndm -[transient Neonatal Diabetes Mellitus] 33
Neonatal Diabetes Mellitus, Transient 75
Tndm1 19
Dmtn 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Transient Neonatal Diabetes Mellitus

GARD: 19 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 genetic changes in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes.

MalaCards based summary: Transient Neonatal Diabetes Mellitus, also known as diabetes mellitus, transient neonatal, is related to diabetes mellitus, transient neonatal, 1 and paternal uniparental disomy of chromosome 6. An important gene associated with Transient Neonatal Diabetes Mellitus is ZFP57 (ZFP57 Zinc Finger Protein), and among its related pathways/superpathways are Integration of energy metabolism and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include kidney, heart and cingulate cortex, and related phenotypes are dehydration and intrauterine growth retardation

Orphanet: 58 Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

Disease Ontology: 11 A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients.

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 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 111)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, transient neonatal, 1 33.2 ZFP57 PLAGL1 HYMAI
2 paternal uniparental disomy of chromosome 6 32.7 PLAGL1 HYMAI
3 diabetes mellitus, permanent neonatal, 1 32.5 KCNJ11 INS ABCC8
4 neonatal diabetes 32.5 ZFP57 TNDM RFX6 PLAGL1 KCNJ11 INS
5 diabetes mellitus 31.3 ZFP57 TNDM RFX6 PLAGL1 KCNJ11 INS
6 monogenic diabetes 31.0 KCNJ11 INS ABCC8
7 permanent neonatal diabetes mellitus 31.0 ZFP57 RFX6 PLAGL1 KCNJ11 INS HYMAI
8 umbilical hernia 31.0 ZFP57 PLAGL1 KCNQ1OT1 KCNJ11 HYMAI ABCC8
9 maturity-onset diabetes of the young 30.6 ZFP57 RFX6 KCNJ11 INS HYMAI GLIS3
10 prediabetes syndrome 30.5 KCNJ11 INS ABCC8
11 beckwith-wiedemann syndrome 29.7 ZFP57 WDR20 SNRPN PLAGL1 PEG3 NLRP7
12 diabetes mellitus, 6q24-related transient neonatal 12.0
13 diabetes mellitus, transient neonatal, 3 11.7
14 diabetes mellitus, transient neonatal, 2 11.4
15 prostate cancer 11.2
16 malaria 11.2
17 hypotrichosis 11.2
18 hereditary spherocytosis 11.1
19 hemolytic anemia 11.1
20 anemia, congenital dyserythropoietic, type iiia 10.9
21 hereditary elliptocytosis 10.9
22 hyperglycemia 10.5
23 paternal uniparental disomy 10.5
24 macroglossia 10.5
25 hypoglycemia 10.5
26 uniparental disomy of chromosome 6 10.4
27 munchausen by proxy 10.4 KCNJ11 ABCC8
28 isolated permanent neonatal diabetes mellitus 10.4 KCNJ11 INS ABCC8
29 maturity-onset diabetes of the young, type 14 10.4 KCNJ11 ABCC8
30 factitious disorder 10.4 KCNJ11 INS ABCC8
31 fetal erythroblastosis 10.4 KCNJ11 INS ABCC8
32 maturity-onset diabetes of the young, type 11 10.4 RFX6 KCNJ11 ABCC8
33 maturity-onset diabetes of the young, type 13 10.4 RFX6 KCNJ11 ABCC8
34 pseudohypoparathyroidism 10.4 KHDC3L GNAS-AS1 GNAS
35 maturity-onset diabetes of the young, type 9 10.4 RFX6 KCNJ11 ABCC8
36 maturity-onset diabetes of the young, type 7 10.4 RFX6 KCNJ11 ABCC8
37 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 RFX6 KCNJ11 ABCC8
38 hyperinsulinemic hypoglycemia, familial, 7 10.4 RFX6 KCNJ11 ABCC8
39 hyperinsulinemic hypoglycemia 10.4 KCNJ11 INS ABCC8
40 intellectual developmental disorder, autosomal dominant 46 10.4 PLAGL1 HYMAI
41 maturity-onset diabetes of the young, type 6 10.4 RFX6 KCNJ11 ABCC8
42 asphyxia neonatorum 10.4 KCNJ11 INS ABCC8
43 cardiomyopathy, dilated, 1o 10.4 KCNJ11 ABCC8
44 hyperinsulinemic hypoglycemia, familial, 2 10.4 KCNJ11 INS ABCC8
45 hypoglycemia, leucine-induced 10.4 KCNJ11 ABCC8
46 partial hydatidiform mole 10.4 NLRP7 KHDC3L
47 wolfram syndrome 1 10.4 KCNJ11 INS ABCC8
48 triploidy 10.4 NLRP7 KHDC3L
49 diabetes mellitus, neonatal, with congenital hypothyroidism 10.4 RFX6 GLIS3
50 renal cysts and diabetes syndrome 10.4 RFX6 KCNJ11 ABCC8

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 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001944
2 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
3 small for gestational age 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001518
4 hyperglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003074
5 hypoinsulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0040216
6 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000158
7 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
8 maturity-onset diabetes of the young 58 30 Frequent (33%) Frequent (79-30%)
HP:0004904
9 transient neonatal diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0008255
10 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
11 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
12 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
13 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
14 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
15 neurodevelopmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012758
16 abnormality of the kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000077
17 abnormal heart morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001627
18 maternal diabetes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009800
19 abnormality of limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040064
20 diabetic ketoacidosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001953
21 abnormality of the urinary system 58 Occasional (29-5%)
22 abnormality of the nervous system 58 Occasional (29-5%)
23 autoimmune antibody positivity 58 Excluded (0%)

MGI Mouse Phenotypes related to Transient Neonatal Diabetes Mellitus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ABCC8 GLIS3 GNAS GNAS-AS1 GRB10 INS
2 endocrine/exocrine gland MP:0005379 9.96 ABCC8 GLIS3 GNAS GRB10 INS KCNJ11
3 embryo MP:0005380 9.81 GNAS GRB10 INS KCNQ1OT1 MEST NLRP2
4 cellular MP:0005384 9.77 GLIS3 GNAS GNAS-AS1 GRB10 INS KCNQ1OT1
5 mortality/aging MP:0010768 9.44 GLIS3 GNAS GNAS-AS1 GRB10 INS KCNJ11

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

Organs/tissues related to Transient Neonatal Diabetes Mellitus:

MalaCards : Kidney, Heart, Cingulate Cortex, Pancreas, Skeletal Muscle, Placenta, Cortex

Publications for Transient Neonatal Diabetes Mellitus

Articles related to Transient Neonatal Diabetes Mellitus:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. 62 5
18197189 2008
2
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. 5
34566892 2021
3
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 5
18622393 2008
4
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study. 62
35896820 2022
5
Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling. 62
35561787 2022
6
Neonatal Diabetes Mellitus - Is Trisomy 21 Associated With Refractory Hyperglycaemia? 62
36414599 2022
7
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. 62
35427809 2022
8
Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age. 62
35218690 2022
9
The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes. 62
35612844 2022
10
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. 62
35296332 2022
11
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience. 62
34837310 2022
12
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. 62
34426871 2021
13
Neonatal Diabetes Mellitus: Novel Mutations. 62
33409956 2021
14
Developmental ethanol exposure causes central nervous system dysfunction and may slow the aging process in a Drosophila model of fetal alcohol spectrum disorder. 62
33961967 2021
15
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder. 62
33683518 2021
16
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. 62
33606663 2021
17
Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24. 62
34422424 2021
18
Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus. 62
34348302 2021
19
Olfaction in Lamprey Pallium Revisited-Dual Projections of Mitral and Tufted Cells. 62
33406414 2021
20
Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report. 62
34249805 2021
21
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. 62
33184150 2021
22
Imprinting disorders in humans: a review. 62
33148967 2020
23
Congenital diabetes mellitus. 62
32274916 2020
24
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China. 62
32279225 2020
25
Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study. 62
32273272 2020
26
Duplication 6q24: More Than Just Diabetes. 62
32373772 2020
27
MicroRNA-195 Functions as a Tumor Suppressor by Directly Targeting Fatty Acid Synthase in Malignant Meningioma. 62
31927122 2020
28
Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. 62
33088017 2020
29
Machine Learning Based Network Analysis Determined Clinically Relevant miRNAs in Breast Cancer. 62
33281885 2020
30
A novel de novo mutation at the ABCC8 gene in a newborn with transient diabetes mellitus. 62
32684766 2020
31
Management of a case of transient neonatal diabetes mellitus using continuous glucose monitoring. 62
32313376 2020
32
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience. 62
33498041 2020
33
Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus. 62
33274084 2020
34
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice. 62
34368464 2020
35
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 62
31186545 2019
36
A Triplication of 6q24 and Meconium Pseudocyst: A Case Report. 62
31712397 2019
37
Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. 62
30897598 2019
38
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. 62
30315371 2019
39
Monogenic Forms of Diabetes Mellitus. 62
31588541 2019
40
Hypermethylation of DMTN promotes the metastasis of colorectal cancer cells by regulating the actin cytoskeleton through Rac1 signaling activation. 62
30514346 2018
41
[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. 62
29896734 2018
42
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. 62
29504184 2018
43
Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. 62
29696471 2018
44
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes 62
28943514 2018
45
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 62
29116606 2018
46
Chromosome 6q24-related diabetes mellitus. 62
29662264 2018
47
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. 62
29527407 2018
48
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. 62
29675256 2018
49
Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. 62
29048742 2017
50
Maternal fertility problems and risk for transient neonatal diabetes mellitus. 62
28707511 2017

Variations for Transient Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Transient Neonatal Diabetes Mellitus:

5 (show top 50) (show all 514)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.4(KCNJ11):c.149G>T (p.Arg50Leu) SNV Likely Risk Allele
1679512 rs80356611 GRCh37: 11:17409490-17409490
GRCh38: 11:17387943-17387943
2 ZFP57 NM_001109809.5(ZFP57):c.317_318del (p.Glu106fs) MICROSAT Pathogenic
716 rs606231121 GRCh37: 6:29643197-29643198
GRCh38: 6:29675420-29675421
3 ZFP57 NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs) DEL Pathogenic
717 rs606231122 GRCh37: 6:29640505-29640505
GRCh38: 6:29672728-29672728
4 ZFP57 NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp) SNV Pathogenic
718 rs79020217 GRCh37: 6:29640516-29640516
GRCh38: 6:29672739-29672739
5 ZFP57 NM_001109809.5(ZFP57):c.743G>A (p.Arg248His) SNV Pathogenic
719 rs77625743 GRCh37: 6:29641145-29641145
GRCh38: 6:29673368-29673368
6 ZFP57 NM_001109809.5(ZFP57):c.829C>A (p.His277Asn) SNV Pathogenic
720 rs78378398 GRCh37: 6:29641059-29641059
GRCh38: 6:29673282-29673282
7 ZFP57 NM_001109809.5(ZFP57):c.898_905del (p.Gly299_Thr300insTer) DEL Pathogenic
721 rs606231123 GRCh37: 6:29640983-29640990
GRCh38: 6:29673206-29673213
8 ZFP57 NM_001109809.5(ZFP57):c.133del (p.Thr45fs) DEL Pathogenic
1323781 GRCh37: 6:29643827-29643827
GRCh38: 6:29676050-29676050
9 ZFP57 NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) SNV Pathogenic
715 rs61730328 GRCh37: 6:29641105-29641105
GRCh38: 6:29673328-29673328
10 ZFP57 NM_001109809.5(ZFP57):c.711dup (p.Lys238fs) DUP Likely Pathogenic
1325370 GRCh37: 6:29641176-29641177
GRCh38: 6:29673399-29673400
11 ZFP57 NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter) SNV Likely Pathogenic
1325371 GRCh37: 6:29641440-29641440
GRCh38: 6:29673663-29673663
12 KCNJ11 NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) SNV Likely Pathogenic
8681 rs35513985 GRCh37: 11:17409482-17409482
GRCh38: 11:17387935-17387935
13 ABCC8 NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) SNV Uncertain Significance
1112579 rs193922403 GRCh37: 11:17416762-17416762
GRCh38: 11:17395215-17395215
14 ABCC8, LOC110121471 NM_000352.6(ABCC8):c.2390+93C>T SNV Uncertain Significance
1177450 rs4148630 GRCh37: 11:17435966-17435966
GRCh38: 11:17414419-17414419
15 ABCC8 NM_000352.6(ABCC8):c.2256-50T>C SNV Uncertain Significance
1177451 rs4148626 GRCh37: 11:17436936-17436936
GRCh38: 11:17415389-17415389
16 ABCC8 NM_000352.6(ABCC8):c.579+9G>A SNV Uncertain Significance
754084 rs776165640 GRCh37: 11:17484976-17484976
GRCh38: 11:17463429-17463429
17 ABCC8 NM_000352.6(ABCC8):c.933G>C (p.Leu311=) SNV Uncertain Significance
878930 rs776498313 GRCh37: 11:17482113-17482113
GRCh38: 11:17460566-17460566
18 ABCC8 NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) SNV Uncertain Significance
752571 rs1256418853 GRCh37: 11:17474747-17474747
GRCh38: 11:17453200-17453200
19 ABCC8 NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) SNV Uncertain Significance
303780 rs146156937 GRCh37: 11:17450115-17450115
GRCh38: 11:17428568-17428568
20 ABCC8 NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) MICROSAT Uncertain Significance
550226 rs1263082097 GRCh37: 11:17426167-17426168
GRCh38: 11:17404620-17404621
21 ABCC8 NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) SNV Uncertain Significance
587475 rs1564890766 GRCh37: 11:17427094-17427094
GRCh38: 11:17405547-17405547
22 ABCC8 NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) SNV Uncertain Significance
587515 rs149331388 GRCh37: 11:17418531-17418531
GRCh38: 11:17396984-17396984
23 ABCC8 NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) SNV Uncertain Significance
996301 rs1484689392 GRCh37: 11:17434248-17434248
GRCh38: 11:17412701-17412701
24 ABCC8, LOC110121471 NM_000352.6(ABCC8):c.2292-1G>A SNV Uncertain Significance
9090 rs1564905676 GRCh37: 11:17436158-17436158
GRCh38: 11:17414611-17414611
25 ABCC8 NM_000352.6(ABCC8):c.2695-1G>C SNV Uncertain Significance
371626 rs1057517420 GRCh37: 11:17430065-17430065
GRCh38: 11:17408518-17408518
26 ABCC8 NM_000352.6(ABCC8):c.1332+17G>C SNV Uncertain Significance
35603 rs193922395 GRCh37: 11:17470046-17470046
GRCh38: 11:17448499-17448499
27 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) SNV Uncertain Significance
217846 rs863225280 GRCh37: 11:17483269-17483269
GRCh38: 11:17461722-17461722
28 ABCC8 NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) DUP Uncertain Significance
371346 rs1057517199 GRCh37: 11:17483367-17483368
GRCh38: 11:17461820-17461821
29 ABCC8 NM_000352.6(ABCC8):c.291-2A>G SNV Uncertain Significance
189097 rs786204695 GRCh37: 11:17491771-17491771
GRCh38: 11:17470224-17470224
30 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) SNV Uncertain Significance
633027 rs1564977373 GRCh37: 11:17483257-17483257
GRCh38: 11:17461710-17461710
31 ABCC8 NM_000352.6(ABCC8):c.1634del (p.Phe545fs) DEL Uncertain Significance
446765 rs1260178539 GRCh37: 11:17453788-17453788
GRCh38: 11:17432241-17432241
32 ABCC8 NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) SNV Uncertain Significance
1069205 rs1591832463 GRCh37: 11:17464280-17464280
GRCh38: 11:17442733-17442733
33 ABCC8 NM_000352.6(ABCC8):c.1671+1G>C SNV Uncertain Significance
370464 rs1057516509 GRCh37: 11:17453750-17453750
GRCh38: 11:17432203-17432203
34 ABCC8 NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) MICROSAT Uncertain Significance
9100 rs387906408 GRCh37: 11:17417438-17417440
GRCh38: 11:17395891-17395893
35 ABCC8 NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) SNV Uncertain Significance
157697 rs149861153 GRCh37: 11:17424246-17424246
GRCh38: 11:17402699-17402699
36 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) DEL Uncertain Significance
196880 rs151344624 GRCh37: 11:17417435-17417437
GRCh38: 11:17395888-17395890
37 ABCC8 NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) SNV Uncertain Significance
303748 rs367862706 GRCh37: 11:17414637-17414637
GRCh38: 11:17393090-17393090
38 ABCC8 NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) SNV Uncertain Significance
303763 rs371089976 GRCh37: 11:17426181-17426181
GRCh38: 11:17404634-17404634
39 ABCC8 NM_000352.6(ABCC8):c.4119+18A>G SNV Uncertain Significance
585345 rs75967811 GRCh37: 11:17418445-17418445
GRCh38: 11:17396898-17396898
40 ABCC8 NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) SNV Uncertain Significance
446767 rs192863214 GRCh37: 11:17428597-17428597
GRCh38: 11:17407050-17407050
41 ABCC8 NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) SNV Uncertain Significance
795504 rs747902103 GRCh37: 11:17448640-17448640
GRCh38: 11:17427093-17427093
42 ABCC8 NM_000352.4(ABCC8):c.-544G>A SNV Uncertain Significance
434041 rs184908312 GRCh37: 11:17498867-17498867
GRCh38: 11:17477320-17477320
43 ABCC8 NM_000352.6(ABCC8):c.725del (p.Lys242fs) DEL Uncertain Significance
958131 rs1957196622 GRCh37: 11:17483227-17483227
GRCh38: 11:17461680-17461680
44 ABCC8 NM_000352.6(ABCC8):c.639G>A (p.Leu213=) SNV Uncertain Significance
1112025 rs1483834388 GRCh37: 11:17483313-17483313
GRCh38: 11:17461766-17461766
45 ABCC8 NM_000352.6(ABCC8):c.354C>T (p.Val118=) SNV Uncertain Significance
255930 rs137873871 GRCh37: 11:17491706-17491706
GRCh38: 11:17470159-17470159
46 ABCC8 NM_000352.4(ABCC8):c.-215_-214del DEL Uncertain Significance
434038 rs902564696 GRCh37: 11:17498537-17498538
GRCh38: 11:17476990-17476991
47 ABCC8 NM_000352.6(ABCC8):c.414C>T (p.Ala138=) SNV Uncertain Significance
991065 rs372766371 GRCh37: 11:17485150-17485150
GRCh38: 11:17463603-17463603
48 ABCC8 NM_000352.4(ABCC8):c.-215G>C SNV Uncertain Significance
434039 rs546148657 GRCh37: 11:17498538-17498538
GRCh38: 11:17476991-17476991
49 ABCC8 NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) SNV Uncertain Significance
35604 rs61748766 GRCh37: 11:17464325-17464325
GRCh38: 11:17442778-17442778
50 ABCC8 NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) SNV Uncertain Significance
157685 rs75376282 GRCh37: 11:17449950-17449950
GRCh38: 11:17428403-17428403

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 8.92 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.92 RFX6 KCNJ11 ABCC8

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0000977 9.61 ZFP57 RFX6 PLAGL1 PEG3 GLIS3
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ11 ABCC8

Sources for Transient Neonatal Diabetes Mellitus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....