Transient Neonatal Diabetes Mellitus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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Drugs & Therapeutics for Transient Neonatal Diabetes Mellitus

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

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Genetic Tests for Transient Neonatal Diabetes Mellitus

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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

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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	Boonen SE...Hahnemann JM	18197189	2008
2	Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. ⁵	Ngoc CTB...Dung VC	34566892	2021
3	Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. ⁵	Mackay DJ...Temple IK	18622393	2008
4	Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study. ⁶²	Liang B...Xu L	35896820	2022
5	Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling. ⁶²	Wang M...Yang S	35561787	2022
6	Neonatal Diabetes Mellitus - Is Trisomy 21 Associated With Refractory Hyperglycaemia? ⁶²	Mirza A...Salat M	36414599	2022
7	A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. ⁶²	Narusawa H...Kagami M	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	Kontbay T...Demirbilek H	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	Lyra A...Calliari LE	35612844	2022
10	Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. ⁶²	Eggermann T...Tumer Z	35296332	2022
11	Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience. ⁶²	Mouler M...Nimri R	34837310	2022
12	Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. ⁶²	Laimon W...De Franco E	34426871	2021
13	Neonatal Diabetes Mellitus: Novel Mutations. ⁶²	Nayak S...Bhatia E	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	Belhorma K...French RL	33961967	2021
15	8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder. ⁶²	Cosemans N...Peeters H	33683518	2021
16	Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. ⁶²	Bonfanti R...Diabetes Study Group of ISPED	33606663	2021
17	Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24. ⁶²	Mustafa M...Faquih A	34422424	2021
18	Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus. ⁶²	Sato Y...Mimaki M	34348302	2021
19	Olfaction in Lamprey Pallium Revisited-Dual Projections of Mitral and Tufted Cells. ⁶²	Suryanarayana SM...Grillner S	33406414	2021
20	Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report. ⁶²	Kim SH...Jang DH	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	Bowman P...Neonatal Diabetes International Collaborative Group	33184150	2021
22	Imprinting disorders in humans: a review. ⁶²	Butler MG	33148967	2020
23	Congenital diabetes mellitus. ⁶²	Iafusco D...Barbetti F	32274916	2020
24	Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China. ⁶²	Cao L...Wei H	32279225	2020
25	Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study. ⁶²	Le Bourgeois F...TNDM Long-Term Follow-Up Study Group	32273272	2020
26	Duplication 6q24: More Than Just Diabetes. ⁶²	Gore RH...Greene CL	32373772	2020
27	MicroRNA-195 Functions as a Tumor Suppressor by Directly Targeting Fatty Acid Synthase in Malignant Meningioma. ⁶²	Song LR...Zhang JT	31927122	2020
28	Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. ⁶²	Uchida N...Ishii T	33088017	2020
29	Machine Learning Based Network Analysis Determined Clinically Relevant miRNAs in Breast Cancer. ⁶²	Qiu M...Liu D	33281885	2020
30	A novel de novo mutation at the ABCC8 gene in a newborn with transient diabetes mellitus. ⁶²	Bolu S...Tekin M	32684766	2020
31	Management of a case of transient neonatal diabetes mellitus using continuous glucose monitoring. ⁶²	Iwata N...Hata D	32313376	2020
32	Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience. ⁶²	Abali ZY...Darendeliler F	33498041	2020
33	Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus. ⁶²	Delamerced A...Quintos JB	33274084	2020
34	Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice. ⁶²	Sachse G...Ashcroft FM	34368464	2020
35	A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. ⁶²	Yakoreva M...Ounap K	31186545	2019
36	A Triplication of 6q24 and Meconium Pseudocyst: A Case Report. ⁶²	Mooney M...Riley C	31712397	2019
37	Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. ⁶²	Fu JL...Xiao XH	30897598	2019
38	Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. ⁶²	Touati A...H'mida Ben Brahim D	30315371	2019
39	Monogenic Forms of Diabetes Mellitus. ⁶²	Gaal Z...Balogh I	31588541	2019
40	Hypermethylation of DMTN promotes the metastasis of colorectal cancer cells by regulating the actin cytoskeleton through Rac1 signaling activation. ⁶²	Ye YP...Ding YQ	30514346	2018
41	[Prenatal diagnosis of two cases of paternal uniparental disomy of chromosome 6]. ⁶²	Sun H...Zhang Y	29896734	2018
42	Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities. ⁶²	Garcin L...Beltrand J	29504184	2018
43	Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. ⁶²	Cortessis VK...Siegmund KD	29696471	2018
44	A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes ⁶²	Gole E...Karavanaki K	28943514	2018
45	Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. ⁶²	Khandelwal P...Bagga A	29116606	2018
46	Chromosome 6q24-related diabetes mellitus. ⁶²	Yorifuji T...Kawakita R	29662264	2018
47	Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ⁶²	Piccini B...Dani C	29527407	2018
48	A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ⁶²	Ando A...Ishibashi S	29675256	2018
49	Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. ⁶²	Cao BY...Li XQ	29048742	2017
50	Maternal fertility problems and risk for transient neonatal diabetes mellitus. ⁶²	Hargreave M...Jensen A	28707511	2017

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Genes for Transient Neonatal Diabetes Mellitus

Genes related to Transient Neonatal Diabetes Mellitus (5 elite genes):

(show top 50) (show all 51)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ZFP57	ZFP57 Zinc Finger Protein	Protein Coding	801.61	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	18197189 18622393 20301706 (more) 22498247 23150280 23499433
2	HYMAI	Hydatidiform Mole Associated And Imprinted	RNA Gene	527	Causative germline mutation ⁵⁸ Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	20301706 21844708 20803656 (more) 11935319
3	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	411.07	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	21844708 22498247 21352428 (more) 34566892
4	PLAGL1	PLAG1 Like Zinc Finger 1	Protein Coding	377.23	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	20301706 21844708 20803656
5	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	365.97	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	21844708 22498247 21738553
6	GNAS-AS1	GNAS Antisense RNA 1	RNA Gene	156.64	Experimental evidence ³⁷ DISEASES inferred ¹⁴	19092779
7	TNDM	Diabetes Mellitus, Transient Neonatal	Uncategorized	18.46	GeneCards inferred via : Publications Summaries (show sections)
8	MEST	Mesoderm Specific Transcript	Protein Coding	6.99	DISEASES inferred ¹⁴
9	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	6.89	DISEASES inferred ¹⁴
10	SNRPN	Small Nuclear Ribonucleoprotein Polypeptide N	Protein Coding	6.84	DISEASES inferred ¹⁴
11	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	6.77	DISEASES inferred ¹⁴
12	INS	Insulin	Protein Coding	6.63	DISEASES inferred ¹⁴
13	RFX6	Regulatory Factor X6	Protein Coding	6.62	DISEASES inferred ¹⁴
14	PEG3	Paternally Expressed 3	Protein Coding	6.58	DISEASES inferred ¹⁴
15	GLIS3	GLIS Family Zinc Finger 3	Protein Coding	6.57	DISEASES inferred ¹⁴
16	GNAS	GNAS Complex Locus	Protein Coding	6.56	DISEASES inferred ¹⁴
17	WDR20	WD Repeat Domain 20	Protein Coding	6.5	DISEASES inferred ¹⁴
18	KHDC3L	KH Domain Containing 3 Like, Subcortical Maternal Complex Member	Protein Coding	6.48	DISEASES inferred ¹⁴
19	NLRP2	NLR Family Pyrin Domain Containing 2	Protein Coding	6.47	DISEASES inferred ¹⁴
20	NLRP7	NLR Family Pyrin Domain Containing 7	Protein Coding	6.44	DISEASES inferred ¹⁴
21	IGF2	Insulin Like Growth Factor 2	Protein Coding	6.43	DISEASES inferred ¹⁴
22	NLRP5	NLR Family Pyrin Domain Containing 5	Protein Coding	6.41	DISEASES inferred ¹⁴
23	DLK1	Delta Like Non-Canonical Notch Ligand 1	Protein Coding	6.38	DISEASES inferred ¹⁴
24	IER3IP1	Immediate Early Response 3 Interacting Protein 1	Protein Coding	6.31	DISEASES inferred ¹⁴
25	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	6.3	DISEASES inferred ¹⁴
26	ZC2HC1B	Zinc Finger C2HC-Type Containing 1B	Protein Coding	6.24	DISEASES inferred ¹⁴
27	OOEP	Oocyte Expressed Protein	Protein Coding	6.21	DISEASES inferred ¹⁴
28	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	6.18	DISEASES inferred ¹⁴
29	GCK	Glucokinase	Protein Coding	6.17	DISEASES inferred ¹⁴
30	H2AC18	H2A Clustered Histone 18	Protein Coding	6.16	DISEASES inferred ¹⁴ ¹⁴
31	NNAT	Neuronatin	Protein Coding	6.16	DISEASES inferred ¹⁴
32	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	Protein Coding	6.15	DISEASES inferred ¹⁴
33	TRIM28	Tripartite Motif Containing 28	Protein Coding	6.11	DISEASES inferred ¹⁴
34	FAM50B	Family With Sequence Similarity 50 Member B	Protein Coding	6.07	DISEASES inferred ¹⁴
35	ZDBF2	Zinc Finger DBF-Type Containing 2	Protein Coding	6.05	DISEASES inferred ¹⁴
36	ZNF23	Zinc Finger Protein 23	Protein Coding	6.04	DISEASES inferred ¹⁴ ¹⁴
37	ZNF445	Zinc Finger Protein 445	Protein Coding	6.04	DISEASES inferred ¹⁴
38	NEUROG3	Neurogenin 3	Protein Coding	5.97	DISEASES inferred ¹⁴
39	NEUROD1	Neuronal Differentiation 1	Protein Coding	5.94	DISEASES inferred ¹⁴
40	SETDB1	SET Domain Bifurcated Histone Lysine Methyltransferase 1	Protein Coding	5.89	DISEASES inferred ¹⁴
41	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	5.88	DISEASES inferred ¹⁴
42	ZNF57	Zinc Finger Protein 57	Protein Coding	5.88	DISEASES inferred ¹⁴
43	PEG10	Paternally Expressed 10	Protein Coding	5.86	DISEASES inferred ¹⁴
44	PEG13	Paternally Expressed 13	RNA Gene	5.82	DISEASES inferred ¹⁴
45	SLC19A2	Solute Carrier Family 19 Member 2	Protein Coding	5.82	DISEASES inferred ¹⁴
46	DIRAS3	DIRAS Family GTPase 3	Protein Coding	5.79	DISEASES inferred ¹⁴
47	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	5.79	DISEASES inferred ¹⁴
48	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	5.76	DISEASES inferred ¹⁴
49	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	5.74	DISEASES inferred ¹⁴
50	PARD6G-AS1	PARD6G Antisense RNA 1	RNA Gene	5.73	DISEASES inferred ¹⁴

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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

Sources

Expression for Transient Neonatal Diabetes Mellitus

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

Sources

Pathways for Transient Neonatal Diabetes Mellitus

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

#	Super pathways	Score	Top Affiliating Genes
1	Integration of energy metabolism ⁶⁶ Show member pathways Acetylcholine regulates insulin secretion ⁶⁶ AMPK inhibits chREBP transcriptional activation activity ⁶⁶ ChREBP activates metabolic gene expression ⁶⁶ Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion ⁶⁶ Free fatty acids regulate insulin secretion ⁶⁶ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁶ Intracellular metabolism of fatty acids regulates insulin secretion ⁶⁶ PKA-mediated phosphorylation of key metabolic factors ⁶⁶ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁶ Regulation of insulin secretion ⁶⁶ Saturated fatty acid biosynthesis ²²	11.92	KCNJ11 INS GNAS ABCC8
2	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	10.77	KCNJ11 INS ABCC8
3	Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	10.25	KCNJ11 INS ABCC8

Sources

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

Sources for Transient Neonatal Diabetes Mellitus

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Transient Neonatal Diabetes Mellitus (DMTN)

Aliases & Classifications for Transient Neonatal Diabetes Mellitus

MalaCards integrated aliases for Transient Neonatal Diabetes Mellitus:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Transient Neonatal Diabetes Mellitus

Related Diseases for Transient Neonatal Diabetes Mellitus

Diseases in the Neonatal Diabetes family:

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

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

Symptoms & Phenotypes for Transient Neonatal Diabetes Mellitus

Human phenotypes related to Transient Neonatal Diabetes Mellitus:

MGI Mouse Phenotypes related to Transient Neonatal Diabetes Mellitus:

Drugs & Therapeutics for Transient Neonatal Diabetes Mellitus

Genetic Tests for Transient Neonatal Diabetes Mellitus

Anatomical Context for Transient Neonatal Diabetes Mellitus

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Publications for Transient Neonatal Diabetes Mellitus

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Genes for Transient Neonatal Diabetes Mellitus

Genes related to Transient Neonatal Diabetes Mellitus (5 elite genes):

Variations for Transient Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Transient Neonatal Diabetes Mellitus:

Expression for Transient Neonatal Diabetes Mellitus

Pathways for Transient Neonatal Diabetes Mellitus

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

GO Terms for Transient Neonatal Diabetes Mellitus

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

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

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

Sources for Transient Neonatal Diabetes Mellitus