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

MCID: TRN032 MIFTS: 44	Transient Neonatal Diabetes Mellitus Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Transient Neonatal Diabetes Mellitus

MalaCards integrated aliases for Transient Neonatal Diabetes Mellitus:

Name: Transient Neonatal Diabetes Mellitus ¹² ⁵⁴ ⁶⁰ ³⁸ ¹⁵

Tndm ⁵⁴ ⁶⁰

Chromosome 6-Associated Transient Diabetes Mellitus ⁵⁴

Diabetes Mellitus, 6q24-Related Transient Neonatal ⁵⁴

Neonatal Diabetes Mellitus, Transient ⁷⁷

Diabetes Mellitus, Transient Neonatal ⁵⁴

Tndm1 ⁵⁴

Dmtn ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Fetal diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Certain conditions originating in the perinatal period

Transitory endocrine and metabolic disorders specific to fetus and newborn

Transitory disorders of carbohydrate metabolism specific to fetus and newborn

Neonatal diabetes mellitus

Orphanet: ⁶⁰

Rare endocrine diseases

External Ids:

Disease Ontology ¹² DOID:0060334

KEGG ³⁸ H00513

ICD10 ³⁴ P70.2

ICD10 via Orphanet ³⁵ P70.2

UMLS via Orphanet ⁷⁵ C1832386

Orphanet ⁶⁰ ORPHA99886

SNOMED-CT via HPO ⁷⁰ 103276001 111246005 13213009 more

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Summaries for Transient Neonatal Diabetes Mellitus

NIH Rare Diseases : ⁵⁴ 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 tndm, is related to diabetes mellitus, 6q24-related transient neonatal and diabetes mellitus, permanent neonatal. An important gene associated with Transient Neonatal Diabetes Mellitus is ZFP57 (ZFP57 Zinc Finger Protein), and among its related pathways/superpathways are Type II diabetes mellitus and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include pancreatic islet, pancreas 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.

Wikipedia : ⁷⁷ Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is... more...

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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 all 46)

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, 6q24-related transient neonatal	34.0	HYMAI PLAGL1 ZFP57
2	diabetes mellitus, permanent neonatal	32.8	ABCC8 INS KCNJ11
3	neonatal diabetes mellitus	32.3	ABCC8 HYMAI INS KCNJ11 PLAGL1 TNDM
4	diabetes mellitus	30.9	ABCC8 HYMAI INS KCNJ11 PLAGL1 TNDM
5	paternal uniparental disomy of chromosome 6	30.7	HYMAI PLAGL1 TNDM
6	hypoglycemia	30.5	ABCC8 INS KCNJ11
7	maturity-onset diabetes of the young	30.3	ABCC8 INS KCNJ11
8	hyperglycemia	30.1	ABCC8 INS KCNJ11
9	diabetes mellitus, transient neonatal, 1	29.7	ABCC8 DNMT3L GNAS-AS1 HYMAI INS KCNJ11
10	beckwith-wiedemann syndrome	29.1	ABCC8 INS KCNQ1OT1 NLRP2 PLAGL1 UROD
11	diabetes mellitus, transient neonatal, 3	12.4
12	diabetes mellitus, transient neonatal, 2	12.2
13	prostate cancer	11.4
14	malaria	11.3
15	hypotrichosis	11.3
16	hereditary spherocytosis	11.2
17	hypogonadotropic hypogonadism 20 with or without anosmia	11.1
18	munchausen by proxy	10.4	ABCC8 KCNJ11
19	cardiomyopathy, dilated, 1o	10.4	ABCC8 KCNJ11
20	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.3	ABCC8 KCNJ11
21	hirata disease	10.3	ABCC8 INS
22	acute insulin response	10.3	ABCC8 INS KCNJ11
23	maturity-onset diabetes of the young, type 1	10.3	ABCC8 INS KCNJ11
24	insulinomatosis and diabetes mellitus	10.3	ABCC8 INS
25	maturity-onset diabetes of the young, type 13	10.3	ABCC8 INS KCNJ11
26	endocrine pancreas disease	10.3	ABCC8 INS KCNJ11
27	pancreas disease	10.2	ABCC8 INS KCNJ11
28	pancreatic agenesis	10.2	ABCC8 INS KCNJ11
29	monogenic diabetes	10.2	ABCC8 INS KCNJ11
30	fanconi-bickel syndrome	10.2	ABCC8 INS
31	thiamine-responsive megaloblastic anemia syndrome	10.2	ABCC8 INS KCNJ11
32	maturity-onset diabetes of the young, type 10	10.2	INS KCNJ11
33	hyperinsulinemic hypoglycemia	10.2	ABCC8 INS KCNJ11
34	macroglossia	10.2
35	glucose metabolism disease	10.2	ABCC8 INS KCNJ11
36	acquired metabolic disease	10.2	ABCC8 INS KCNJ11
37	usher syndrome, type ic	10.2	ABCC8 KCNJ11
38	hyperinsulinism	10.2	ABCC8 INS KCNJ11
39	colorectal cancer	10.2
40	taylor's syndrome	10.2	DNMT3L KCNJ11
41	silver-russell syndrome	10.1	KCNQ1OT1 MEST ZFP57
42	cantu syndrome	10.0	ABCC8 KCNJ11
43	arts syndrome	9.9	KCNQ1OT1 MEST
44	nondisjunction	9.9
45	gestational trophoblastic neoplasm	9.9	NLRP2 NLRP7
46	trophoblastic neoplasm	9.8	NLRP2 NLRP7

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:

⁶⁰ ³³ (show all 31)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	failure to thrive ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001508
2	dehydration ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001944
3	weight loss ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001824
4	intrauterine growth retardation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001511
5	hypovolemia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011106
6	glycosuria ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003076
7	hyperglycemia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003074
8	transient neonatal diabetes mellitus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008255
9	abnormality of the pancreatic islet cells ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0006476
10	intellectual disability ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001249
11	global developmental delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001263
12	arthrogryposis multiplex congenita ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002804
13	motor delay ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001270
14	downturned corners of mouth ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002714
15	prominent metopic ridge ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005487
16	bilateral ptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001488
17	ketonuria ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002919
18	contractures of the joints of the lower limbs ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0005750
19	muscular hypotonia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001252
20	hearing impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000365
21	renal tubular dysfunction ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000124
22	generalized myoclonic seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002123
23	generalized tonic-clonic seizures ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002069
24	apraxia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002186
25	coma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001259
26	steatorrhea ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002570
27	abnormal heart morphology ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001627
28	seizures ⁶⁰		Occasional (29-5%)
29	neurodevelopmental delay ⁶⁰		Frequent (79-30%)
30	abnormality of the upper urinary tract ⁶⁰		Occasional (29-5%)
31	autoimmune antibody positivity ⁶⁰		Excluded (0%)

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

²⁷ (show all 22)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	10.02	UROD
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.02	KCNJ11
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	10.02	KCNJ11
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	10.02	KCNJ11 MEST UROD
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.02	MEST
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	10.02	KCNJ11
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	10.02	MEST
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.02	MEST
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	10.02	UROD
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.02	KCNJ11
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	10.02	MEST
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.02	MEST
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.02	MEST
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	10.02	UROD
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	10.02	UROD
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-45	10.02	KCNJ11
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-51	10.02	KCNJ11
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	10.02	KCNJ11
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	10.02	UROD
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.02	UROD
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	10.02	MEST
22	Reduced mammosphere formation	GR00396-S	9.1	ABCC8 KCNJ11 MOG PEG3 PLAGL1 UROD

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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

MalaCards organs/tissues related to Transient Neonatal Diabetes Mellitus:

⁴²

Pancreatic Islet, Pancreas, Testes

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Publications for Transient Neonatal Diabetes Mellitus

Articles related to Transient Neonatal Diabetes Mellitus:

(show top 50) (show all 69)

#	Title	Authors	Year
1	Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea. ( 30897598 )	Fu JL...Xiao XH	2019
2	Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature. ( 30315371 )	Touati A...H'mida Ben Brahim D	2019
3	Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ( 29527407 )	Piccini B...Dani C	2018
4	A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ( 29675256 )	Ando A...Ishibashi S	2018
5	Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )	Kamoun T...Hachicha M	2017
6	Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )	Kylat RI...Bader MY	2017
7	Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )	Hargreave M...Jensen A	2017
8	Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )	Zammit MA...Calleja-Agius J	2017
9	Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. ( 28804207 )	Yamazaki M...Yamagata T	2017
10	Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )	Fargas-Berr?os N...Valc?rcel M	2015
11	Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )	Anderson de la Llana S...Schwitzgebel VM	2015
12	Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )	Hoffmann A...Spengler D	2015
13	Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )	Priyadarshi A...Bolisetty S	2015
14	6q24 transient neonatal diabetes mellitus: the first case report from China. ( 25316252 )	Yao B...Weng J	2014
15	Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience. ( 25437016 )	Passanisi S...Caruso-Nicoletti M	2014
16	Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. ( 24552466 )	Yorifuji T...Fujii M	2014
17	Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. ( 24569603 )	Mackay D...Temple IK	2014
18	Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. ( 24859512 )	Kalaivanan P...Hussain K	2014
19	Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. ( 23385738 )	Docherty LE...Temple IK	2013
20	Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. ( 23748067 )	Boyraz M...Mackay DJ	2013
21	Insulin pump therapy in transient neonatal diabetes mellitus. ( 24904869 )	Park JH...Yoo EG	2013
22	Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. ( 22547676 )	Hoffmann A...Spengler D	2012
23	Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. ( 22749773 )	Alves C...Mackay DJ	2012
24	Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. ( 21738553 )	Kong JH...Kim JB	2011
25	Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. ( 22768014 )	Barone JV...Ferry RJ	2011
26	Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. ( 20412110 )	Suzuki S...Fujieda K	2010
27	Transient neonatal diabetes mellitus type 1. ( 20803656 )	Mackay DJ...Temple IK	2010
28	A case of transient neonatal diabetes mellitus. ( 21131807 )	Hewes HA...Adelgais KM	2010
29	An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. ( 19446154 )	Loomba-Albrecht LA...Bremer AA	2009
30	Transient neonatal diabetes mellitus in an extremely preterm infant. ( 21686427 )	Nishimaki S...Yokota S	2009
31	Transient neonatal diabetes mellitus in extremely preterm infant. ( 18192332 )	Nishimaki S...Yokota S	2008
32	Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. ( 18486206 )	Aviram R...Arnon S	2008
33	Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. ( 19012334 )	Martin-Subero JI...Siebert R	2008
34	Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )	F?lix TM...Dagle JM	2007
35	Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. ( 16402210 )	Mackay DJ...Temple IK	2006
36	Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. ( 17220064 )	Milenkovic T...Zdravkovic D	2006
37	A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. ( 16816970 )	Mackay DJ...Temple IK	2006
38	Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. ( 16873690 )	Gloyn AL...Frayling TM	2006
39	Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. ( 15635480 )	Mackay DJ...Robinson DO	2005
40	Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. ( 15924231 )	Kant SG...Mackay DJ	2005
41	Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. ( 16205880 )	Colombo C...Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology	2005
42	Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. ( 15286800 )	Ma D...Kelsey G	2004
43	Transient neonatal diabetes mellitus: a patient report. ( 14513885 )	T?rkmen M...Inan G	2003
44	Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. ( 11935319 )	Mackay DJ...Robinson DO	2002
45	Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? ( 12014522 )	AvRuskin TW...Juan CS	2002
46	Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. ( 11508282 )	Shield J...Temple IK	2001
47	Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. ( 11297535 )	Varrault A...Journot L	2001
48	A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. ( 11448939 )	Arima T...Surani MA	2001
49	Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. ( 11515730 )	Milenkovic T...Jankovic B	2001
50	An imprinted locus associated with transient neonatal diabetes mellitus. ( 10699182 )	Gardner RJ...Robinson DO	2000

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Genes for Transient Neonatal Diabetes Mellitus

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

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZFP57	ZFP57 Zinc Finger Protein	Protein Coding	807.76	Pathogenic ⁶ Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	HYMAI	Hydatidiform Mole Associated And Imprinted	RNA Gene	526.69	Causative germline mutation ⁶⁰ Experimental evidence: Expression ⁴⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)	11935319
3	KCNJ11	Potassium Voltage-Gated Channel Subfamily J Member 11	Protein Coding	408.75	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	PLAGL1	PLAG1 Like Zinc Finger 1	Protein Coding	396.37	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	385.79	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
6	GNAS-AS1	GNAS Antisense RNA 1	RNA Gene	166.11	Experimental evidence ⁴⁰ DISEASES inferred ¹⁵	19092779
7	INS	Insulin	Protein Coding	23.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	MOG	Myelin Oligodendrocyte Glycoprotein	Protein Coding	18.16	GeneCards inferred via : Variants (show sections)
9	TNDM	Diabetes Mellitus, Transient Neonatal	Uncategorized	18.11	GeneCards inferred via : Publications Summaries (show sections)
10	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	16.54	DISEASES inferred ¹⁵
11	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	15.9	DISEASES inferred ¹⁵
12	MEST	Mesoderm Specific Transcript	Protein Coding	15.68	DISEASES inferred ¹⁵
13	NLRP2	NLR Family Pyrin Domain Containing 2	Protein Coding	15.36	DISEASES inferred ¹⁵
14	DNMT3L	DNA Methyltransferase 3 Like	Protein Coding	15.23	DISEASES inferred ¹⁵
15	NLRP7	NLR Family Pyrin Domain Containing 7	Protein Coding	15	DISEASES inferred ¹⁵
16	PEG3	Paternally Expressed 3	Protein Coding	14.96	DISEASES inferred ¹⁵
17	KRBOX4	KRAB Box Domain Containing 4	Protein Coding	7.06	GeneCards inferred via : Publications (show sections)
18	ZC2HC1B	Zinc Finger C2HC-Type Containing 1B	Protein Coding	6.16	DISEASES inferred ¹⁵

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Variations for Transient Neonatal Diabetes Mellitus

ClinVar genetic disease variations for Transient Neonatal Diabetes Mellitus:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ZFP57	NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)	single nucleotide variant	Pathogenic	rs61730328	GRCh37	Chromosome 6, 29641105: 29641105
2	ZFP57	NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)	single nucleotide variant	Pathogenic	rs61730328	GRCh38	Chromosome 6, 29673328: 29673328
3	ZFP57	NM_001109809.2(ZFP57): c.317_318delAG (p.Glu106Valfs)	deletion	Pathogenic	rs606231121	GRCh38	Chromosome 6, 29675420: 29675421
4	ZFP57	NM_001109809.2(ZFP57): c.317_318delAG (p.Glu106Valfs)	deletion	Pathogenic	rs606231121	GRCh37	Chromosome 6, 29643197: 29643198
5	ZFP57	NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs)	deletion	Pathogenic	rs606231122	GRCh38	Chromosome 6, 29672728: 29672728
6	ZFP57	NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs)	deletion	Pathogenic	rs606231122	GRCh37	Chromosome 6, 29640505: 29640505
7	ZFP57	NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)	single nucleotide variant	Pathogenic	rs79020217	GRCh37	Chromosome 6, 29640516: 29640516
8	ZFP57	NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)	single nucleotide variant	Pathogenic	rs79020217	GRCh38	Chromosome 6, 29672739: 29672739
9	ZFP57	NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)	single nucleotide variant	Pathogenic	rs77625743	GRCh37	Chromosome 6, 29641145: 29641145
10	ZFP57	NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)	single nucleotide variant	Pathogenic	rs77625743	GRCh38	Chromosome 6, 29673368: 29673368
11	ZFP57	NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)	single nucleotide variant	Pathogenic	rs78378398	GRCh37	Chromosome 6, 29641059: 29641059
12	ZFP57	NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)	single nucleotide variant	Pathogenic	rs78378398	GRCh38	Chromosome 6, 29673282: 29673282
13	ZFP57	NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs)	deletion	Pathogenic	rs606231123	GRCh38	Chromosome 6, 29673206: 29673213
14	ZFP57	NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs)	deletion	Pathogenic	rs606231123	GRCh37	Chromosome 6, 29640983: 29640990
15	ZFP57	NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr)	single nucleotide variant	Uncertain significance	rs1554211826	GRCh38	Chromosome 6, 29673387: 29673387
16	ZFP57	NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr)	single nucleotide variant	Uncertain significance	rs1554211826	GRCh37	Chromosome 6, 29641164: 29641164

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 KEGG:

³⁸

#	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	Type II diabetes mellitus ¹ ³⁸ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶²	11.11	ABCC8 INS KCNJ11
2	FOXA2 and FOXA3 transcription factor networks ¹	10.44	ABCC8 INS KCNJ11

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	8.62	ABCC8 KCNJ11

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	9.16	ABCC8 KCNJ11
2	positive regulation of interleukin-1 beta secretion	GO:0050718	8.96	NLRP2 NLRP7
3	regulation of gene expression by genetic imprinting	GO:0006349	8.62	DNMT3L ZFP57

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

Sources for Transient Neonatal Diabetes Mellitus

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia