Diabetes Mellitus, Transient Neonatal, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TNDM1 MCID: DBT064 MIFTS: 47	Diabetes Mellitus, Transient Neonatal, 1 (TNDM1) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 1

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 1:

Name: Diabetes Mellitus, Transient Neonatal, 1 ⁵⁷ ¹³ ⁷³

Transient Neonatal Diabetes Mellitus ¹² ⁵³ ⁵⁹ ³⁷ ¹⁵ ⁷³

Tndm1 ⁵⁷ ⁵³ ⁷⁵

Tndm ⁵⁷ ⁵³ ⁵⁹

Diabetes Mellitus, Transient Neonatal ⁵⁷ ⁵³

Dmtn ⁵⁷ ⁵³

Chromosome 6-Associated Transient Diabetes Mellitus ⁵³

Diabetes Mellitus, 6q24-Related Transient Neonatal ⁵³

Transient Neonatal Diabetes Mellitus 1 ⁷⁵

Neonatal Diabetes Mellitus, Transient ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
imprinted, paternally expressed gene on chromosome 6q22-q23

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

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: ⁵⁹

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 601410

Disease Ontology ¹² DOID:0060334

ICD10 ³³ P70.2

Orphanet ⁵⁹ ORPHA99886

UMLS via Orphanet ⁷⁴ C1832386

ICD10 via Orphanet ³⁴ P70.2

MedGen ⁴² C1832386

KEGG ³⁷ H00513

SNOMED-CT via HPO ⁶⁹ 95568003 103276001 15188001 more

UMLS ⁷³ C1832386 C0342273

Sources

Summaries for Diabetes Mellitus, Transient Neonatal, 1

OMIM : ⁵⁷ Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (606176). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997). The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene (603044; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. (601410)

MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 1, also known as transient neonatal diabetes mellitus, is related to neonatal diabetes mellitus and diabetes mellitus. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 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 heart, pancreatic islet and testes, and related phenotypes are intellectual disability and muscular hypotonia

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.

NIH Rare Diseases : ⁵³ Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes. Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.

UniProtKB/Swiss-Prot : ⁷⁵ Transient neonatal diabetes mellitus 1: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.

Wikipedia : ⁷⁶ Transient neonatal diabetes mellitus (TNDM) is a form of diabetes mellitus presenting at birth that is... more...

Sources

Related Diseases for Diabetes Mellitus, Transient Neonatal, 1

Diseases in the Neonatal Diabetes Mellitus family:

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

Diseases related to Diabetes Mellitus, Transient Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)

#	Related Disease	Score	Top Affiliating Genes
1	neonatal diabetes mellitus	32.9	ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
2	diabetes mellitus	32.4	ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
3	diabetes mellitus, permanent neonatal	32.2	ABCC8 INS KCNJ11
4	paternal uniparental disomy of chromosome 6	32.0	HYMAI PLAGL1
5	diabetes mellitus, 6q24-related transient neonatal	32.0	HYMAI PLAGL1 ZFP57
6	maturity-onset diabetes of the young	30.3	ABCC8 INS KCNJ11
7	hyperglycemia	30.0	ABCC8 INS KCNJ11
8	beckwith-wiedemann syndrome	29.7	ABCC8 INS KCNQ1OT1 NLRP2 PLAGL1 UROD
9	diabetes mellitus, transient neonatal, 2	12.5
10	diabetes mellitus, transient neonatal, 3	12.5
11	prostate cancer	11.4
12	malaria	11.3
13	hypotrichosis	11.3
14	hereditary spherocytosis	11.2
15	macroglossia	11.1
16	hypogonadotropic hypogonadism 20 with or without anosmia	11.0
17	neuroblastoma	10.3
18	munchausen by proxy	10.2	ABCC8 KCNJ11
19	cardiomyopathy, dilated, 1o	10.2	ABCC8 KCNJ11
20	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.2	ABCC8 KCNJ11
21	hirata disease	10.2	ABCC8 INS
22	insulinomatosis and diabetes mellitus	10.2	ABCC8 INS
23	fanconi-bickel syndrome	10.2	ABCC8 INS
24	maturity-onset diabetes of the young, type 10	10.2	INS KCNJ11
25	acute insulin response	10.2	ABCC8 INS KCNJ11
26	taylor's syndrome	10.2	DNMT3L KCNJ11
27	maturity-onset diabetes of the young, type 13	10.2	ABCC8 INS KCNJ11
28	maturity-onset diabetes of the young, type 1	10.2	ABCC8 INS KCNJ11
29	endocrine pancreas disease	10.2	ABCC8 INS KCNJ11
30	pancreas disease	10.2	ABCC8 INS KCNJ11
31	pancreatic agenesis	10.1	ABCC8 INS KCNJ11
32	monogenic diabetes	10.1	ABCC8 INS KCNJ11
33	thiamine-responsive megaloblastic anemia syndrome	10.1	ABCC8 INS KCNJ11
34	hyperinsulinemic hypoglycemia	10.1	ABCC8 INS KCNJ11
35	hypoglycemia	10.1	ABCC8 INS KCNJ11
36	cantu syndrome	10.1	ABCC8 KCNJ11
37	colorectal cancer	10.1
38	glucose metabolism disease	10.1	ABCC8 INS KCNJ11
39	acquired metabolic disease	10.1	ABCC8 INS KCNJ11
40	hyperinsulinism	10.1	ABCC8 INS KCNJ11
41	arts syndrome	10.1	KCNQ1OT1 MEST
42	usher syndrome, type ic	10.1	ABCC8 KCNJ11
43	spastic paraplegia 17, autosomal dominant	10.0	GRB10 KCNQ1OT1
44	partial hydatidiform mole	10.0	KHDC3L NLRP7
45	triploidy	9.9	KHDC3L NLRP7
46	nondisjunction	9.9
47	silver-russell syndrome	9.9	GRB10 KCNQ1OT1 MEST ZFP57
48	gestational trophoblastic neoplasm	9.8	KHDC3L NLRP2 NLRP7
49	trophoblastic neoplasm	9.8	KHDC3L NLRP2 NLRP7
50	hydatidiform mole, recurrent, 1	9.8	KHDC3L NLRP7

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 1:

Sources

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Metabolic:
dehydration
insulin therapy usually required

Lab:
hyperglycemia

Misc:
usual resolution within 6 months
late predisposition to type 2 (insulin resistant) diabetes

Growth:
intrauterine growth retardation
severe failure to thrive

Endocrine:
transient neonatal diabetes mellitus (tndm)

Clinical features from OMIM:

601410

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

⁵⁹ ³² (show all 32)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001249
2	muscular hypotonia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001252
3	failure to thrive ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001508
4	hearing impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000365
5	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
6	renal tubular dysfunction ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000124
7	dehydration ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001944
8	weight loss ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001824
9	generalized myoclonic seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002123
10	intrauterine growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001511
11	generalized tonic-clonic seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002069
12	arthrogryposis multiplex congenita ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002804
13	motor delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001270
14	apraxia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002186
15	downturned corners of mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002714
16	coma ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001259
17	prominent metopic ridge ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005487
18	hypovolemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011106
19	glycosuria ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003076
20	steatorrhea ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002570
21	abnormal heart morphology ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001627
22	bilateral ptosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001488
23	ketonuria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002919
24	hyperglycemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003074
25	transient neonatal diabetes mellitus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008255
26	abnormality of the pancreatic islet cells ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006476
27	contractures of the joints of the lower limbs ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0005750
28	seizures ⁵⁹		Occasional (29-5%)
29	neurodevelopmental delay ⁵⁹		Frequent (79-30%)
30	abnormality of the upper urinary tract ⁵⁹		Occasional (29-5%)
31	severe failure to thrive ³²			HP:0001525
32	autoimmune antibody positivity ⁵⁹		Excluded (0%)

GenomeRNAi Phenotypes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

²⁶ (show all 20)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.66	UROD
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.66	KCNJ11
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	9.66	KCNJ11
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	9.66	KCNJ11 MEST UROD
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	9.66	MEST
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.66	KCNJ11
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.66	MEST
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.66	MEST
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	9.66	UROD
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.66	KCNJ11
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	9.66	MEST
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.66	MEST
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.66	MEST
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	9.66	UROD
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.66	UROD
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-45	9.66	KCNJ11
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-51	9.66	KCNJ11
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.66	UROD
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.66	UROD
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	9.66	MEST

Sources

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 1

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 1

Sources

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

Sources

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

MalaCards organs/tissues related to Diabetes Mellitus, Transient Neonatal, 1:

⁴¹

Heart, Pancreatic Islet, Testes, Prostate, Pancreas

Sources

Publications for Diabetes Mellitus, Transient Neonatal, 1

Articles related to Diabetes Mellitus, Transient Neonatal, 1:

(show top 50) (show all 67)

#	Title	Authors	Year
1	A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ( 29675256 )	Ando A....Ishibashi S.	2018
2	Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ( 29527407 )		2018
3	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	2018
4	Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )	Zammit M.A....Calleja-Agius J.	2017
5	Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )	Hargreave M....Jensen A.	2017
6	Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )	Kylat R.I....Bader M.Y.	2017
7	Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )	Kamoun T....Hachicha M.	2017
8	Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation. ( 28804207 )		2017
9	Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )	Anderson de la Llana S....Schwitzgebel V.M.	2015
10	Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )	Fargas-BerrA-os N....ValcA!rcel M.	2015
11	Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )		2015
12	Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )		2015
13	Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. ( 24569603 )	Mackay D....Temple I.K.	2014
14	Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. ( 24859512 )	Kalaivanan P....Hussain K.	2014
15	6q24 transient neonatal diabetes mellitus: the first case report from China. ( 25316252 )		2014
16	Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience. ( 25437016 )		2014
17	Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. ( 24552466 )	Yorifuji T...Fujii M	2014
18	Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. ( 23748067 )	Boyraz M....Mackay D.J.	2013
19	Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. ( 23385738 )	Docherty L.E....Temple I.K.	2013
20	Insulin pump therapy in transient neonatal diabetes mellitus. ( 24904869 )		2013
21	Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. ( 22547676 )		2012
22	Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. ( 22749773 )		2012
23	Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. ( 22768014 )	Barone J.V....Ferry R.J.	2011
24	Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. ( 21738553 )	Kong J.H....Kim J.B.	2011
25	A case of transient neonatal diabetes mellitus. ( 21131807 )	Hewes H.A....Adelgais K.M.	2010
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	An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. ( 19446154 )	Loomba-Albrecht L.A....Bremer A.A.	2009
29	Transient neonatal diabetes mellitus in an extremely preterm infant. ( 21686427 )		2009
30	Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. ( 19012334 )	Martin-Subero J.I....Siebert R.	2008
31	Transient neonatal diabetes mellitus in extremely preterm infant. ( 18192332 )		2008
32	Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. ( 18486206 )		2008
33	Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )	FAclix T.M....Dagle J.M.	2007
34	Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. ( 17220064 )	Milenkovic T....Zdravkovic D.	2006
35	A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. ( 16816970 )	Mackay D.J....Temple I.K.	2006
36	Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. ( 16402210 )	Mackay D.J....Temple I.K.	2006
37	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 )		2006
38	Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. ( 16205880 )		2005
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 )		2005
40	Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. ( 15924231 )		2005
41	Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. ( 15286800 )	Ma D....Kelsey G.	2004
42	Transient neonatal diabetes mellitus: a patient report. ( 14513885 )	TA1rkmen M....Inan G.	2003
43	Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? ( 12014522 )	AvRuskin T.W....Juan C.S.	2002
44	Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. ( 11935319 )	Mackay D.J....Robinson D.O.	2002
45	Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. ( 11515730 )	Milenkovic T....Jankovic B.	2001
46	A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. ( 11448939 )	Arima T....Surani M.A.	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	Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. ( 10757646 )	Marquis E....Diatloff-Zito C.	2000
49	An imprinted locus associated with transient neonatal diabetes mellitus. ( 10699182 )	Gardner R.J....Robinson D.O.	2000
50	Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. ( 10204843 )	Gardner RJ...Robinson DO	1999

Sources

Genes for Diabetes Mellitus, Transient Neonatal, 1

Genes related to Diabetes Mellitus, Transient Neonatal, 1 (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	1568.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ DISEASES inferred ¹⁵	18197189 18622393 20301706 (more) 10699182
2	HYMAI	Hydatidiform Mole Associated And Imprinted	RNA Gene	508.8	Causative germline mutation ⁵⁹ Experimental evidence: Expression ³⁹ DISEASES inferred ¹⁵	11935319
3	PLAGL1	PLAG1 Like Zinc Finger 1	Protein Coding	418.68	Causative germline mutation ⁵⁹ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁵
4	KCNJ11	Potassium Voltage-Gated Channel Subfamily J Member 11	Protein Coding	367.54	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
5	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	367.11	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
6	GNAS-AS1	GNAS Antisense RNA 1	RNA Gene	166.1	Experimental evidence ³⁹ DISEASES inferred ¹⁵	19092779
7	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	16.52	DISEASES inferred ¹⁵
8	INS	Insulin	Protein Coding	16.12	DISEASES inferred ¹⁵
9	KCNQ1OT1	KCNQ1 Opposite Strand/Antisense Transcript 1	RNA Gene	15.92	DISEASES inferred ¹⁵
10	MEST	Mesoderm Specific Transcript	Protein Coding	15.79	DISEASES inferred ¹⁵
11	NLRP2	NLR Family Pyrin Domain Containing 2	Protein Coding	15.37	DISEASES inferred ¹⁵
12	DNMT3L	DNA Methyltransferase 3 Like	Protein Coding	15.22	DISEASES inferred ¹⁵
13	FKBP6	FKBP Prolyl Isomerase 6	Protein Coding	15.02	DISEASES inferred ¹⁵
14	NLRP7	NLR Family Pyrin Domain Containing 7	Protein Coding	15	DISEASES inferred ¹⁵
15	PEG3	Paternally Expressed 3	Protein Coding	14.94	DISEASES inferred ¹⁵
16	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	14.88	DISEASES inferred ¹⁵
17	KHDC3L	KH Domain Containing 3 Like, Subcortical Maternal Complex Member	Protein Coding	14.73	DISEASES inferred ¹⁵
18	ZC2HC1B	Zinc Finger C2HC-Type Containing 1B	Protein Coding	6.07	DISEASES inferred ¹⁵

Sources

Variations for Diabetes Mellitus, Transient Neonatal, 1

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ZFP57	p.Arg166His	VAR_054771	rs199589695
2	ZFP57	p.His193Asn	VAR_054772	rs78378398
3	ZFP57	p.His374Asp	VAR_054773	rs79020217

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

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		GRCh38	Chromosome 6, 29673387: 29673387
16	ZFP57	NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 6, 29641164: 29641164

Sources

Expression for Diabetes Mellitus, Transient Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.

Sources

Pathways for Diabetes Mellitus, Transient Neonatal, 1

Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Type II diabetes mellitus	hsa04930

Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Type II diabetes mellitus ³⁷ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶¹	11.11	ABCC8 INS KCNJ11
2	FOXA2 and FOXA3 transcription factor networks ¹	10.44	ABCC8 INS KCNJ11

Sources

GO Terms for Diabetes Mellitus, Transient Neonatal, 1

Cellular components related to Diabetes Mellitus, Transient Neonatal, 1 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 Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of insulin secretion	GO:0046676	9.26	ABCC8 KCNJ11
2	positive regulation of interleukin-1 beta secretion	GO:0050718	9.16	NLRP2 NLRP7
3	DNA methylation involved in gamete generation	GO:0043046	8.96	DNMT3L FKBP6
4	regulation of gene expression by genetic imprinting	GO:0006349	8.62	DNMT3L ZFP57

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin receptor binding	GO:0005158	8.96	GRB10 INS
2	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.62	ABCC8 KCNJ11

Sources

Sources for Diabetes Mellitus, Transient Neonatal, 1

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Diabetes Mellitus, Transient Neonatal, 1 (TNDM1)

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 1

MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

Classifications:

External Ids:

Summaries for Diabetes Mellitus, Transient Neonatal, 1

Related Diseases for Diabetes Mellitus, Transient Neonatal, 1

Diseases in the Neonatal Diabetes Mellitus family:

Diseases related to Diabetes Mellitus, Transient Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 1:

Symptoms & Phenotypes for Diabetes Mellitus, Transient Neonatal, 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

GenomeRNAi Phenotypes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 1

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

MalaCards organs/tissues related to Diabetes Mellitus, Transient Neonatal, 1:

Publications for Diabetes Mellitus, Transient Neonatal, 1

Articles related to Diabetes Mellitus, Transient Neonatal, 1:

Genes for Diabetes Mellitus, Transient Neonatal, 1

Genes related to Diabetes Mellitus, Transient Neonatal, 1 (5 elite genes):

Variations for Diabetes Mellitus, Transient Neonatal, 1

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

Expression for Diabetes Mellitus, Transient Neonatal, 1

Pathways for Diabetes Mellitus, Transient Neonatal, 1

Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to KEGG:

Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

GO Terms for Diabetes Mellitus, Transient Neonatal, 1

Cellular components related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

Biological processes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

Sources for Diabetes Mellitus, Transient Neonatal, 1