MCID: DBT064
MIFTS: 47

Diabetes Mellitus, Transient Neonatal, 1

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases, Fetal diseases

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
Transient Neonatal Diabetes Mellitus 1 75 29 6
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
Diabetes Mellitus, Neonatal, Transient, Type 1 40
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:

Orphanet: 59  
Rare endocrine diseases


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 paternal uniparental disomy of chromosome 6 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 failure to thrive and intrauterine growth retardation

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...

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 all 43)
# Related Disease Score Top Affiliating Genes
1 paternal uniparental disomy of chromosome 6 32.6 HYMAI PLAGL1
2 diabetes mellitus 31.7 ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
3 neonatal diabetes mellitus 31.5 ABCC8 HYMAI INS KCNJ11 PLAGL1 ZFP57
4 maturity-onset diabetes of the young 29.9 ABCC8 INS KCNJ11
5 beckwith-wiedemann syndrome 28.9 ABCC8 INS KCNQ1OT1 NLRP2 PLAGL1 ZFP57
6 diabetes mellitus, transient neonatal, 2 12.4
7 diabetes mellitus, transient neonatal, 3 12.3
8 prostate cancer 11.2
9 malaria 11.1
10 hypotrichosis 11.1
11 hereditary spherocytosis 11.0
12 diabetes mellitus, 6q24-related transient neonatal 11.0
13 macroglossia 10.9
14 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
15 munchausen by proxy 10.7 ABCC8 KCNJ11
16 cardiomyopathy, dilated, 1o 10.7 ABCC8 KCNJ11
17 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.6 ABCC8 KCNJ11
18 usher syndrome, type ic 10.5 ABCC8 KCNJ11
19 factitious disorder 10.5 ABCC8 INS KCNJ11
20 hyperinsulinemic hypoglycemia, familial, 2 10.5 ABCC8 INS KCNJ11
21 fanconi-bickel syndrome 10.5 ABCC8 INS
22 acute insulin response 10.4 ABCC8 INS KCNJ11
23 monogenic diabetes 10.4 ABCC8 INS KCNJ11
24 pancreatic agenesis 10.4 ABCC8 INS KCNJ11
25 endocrine pancreas disease 10.4 ABCC8 INS KCNJ11
26 pancreas disease 10.4 ABCC8 INS KCNJ11
27 taylor's syndrome 10.4 DNMT3L KCNJ11
28 hyperinsulinemic hypoglycemia 10.4 ABCC8 INS KCNJ11
29 diabetes mellitus, permanent neonatal 10.4 ABCC8 INS KCNJ11
30 glucose metabolism disease 10.3 ABCC8 INS KCNJ11
31 hyperinsulinism 10.3 ABCC8 INS KCNJ11
32 hyperglycemia 10.3 ABCC8 INS KCNJ11
33 hypoglycemia 10.2 ABCC8 INS KCNJ11
34 neuroblastoma 10.1
35 partial hydatidiform mole 10.1 KHDC3L NLRP7
36 spastic paraplegia 17, autosomal dominant 10.1 GNAS-AS1 GRB10 KCNQ1OT1
37 arts syndrome 10.0 KCNQ1OT1 MEST
38 cantu syndrome 10.0 ABCC8 KCNJ11
39 triploidy 10.0 KHDC3L NLRP7
40 silver-russell syndrome 9.8 GRB10 KCNQ1OT1 MEST ZFP57
41 gestational trophoblastic neoplasm 9.7 KHDC3L NLRP2 NLRP7
42 hydatidiform mole, recurrent, 1 9.7 KHDC3L NLRP7
43 trophoblastic neoplasm 9.7 KHDC3L NLRP2 NLRP7

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



Diseases related to Diabetes Mellitus, Transient Neonatal, 1

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

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 MEST UROD KCNJ11
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

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 1

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

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

Genetic tests related to Diabetes Mellitus, Transient Neonatal, 1:

# Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 1 29 HYMAI PLAGL1 ZFP57

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

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

41
Heart, Pancreatic Islet, Testes

Publications for Diabetes Mellitus, Transient Neonatal, 1

Articles related to Diabetes Mellitus, Transient Neonatal, 1:

(show top 50) (show all 65)
# Title Authors Year
1
A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement. ( 29675256 )
2018
2
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation. ( 29527407 )
2018
3
Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care. ( 28764822 )
2017
4
Maternal fertility problems and risk for transient neonatal diabetes mellitus. ( 28707511 )
2017
5
Personalized precision medicine in extreme preterm infants with transient neonatal diabetes mellitus. ( 28350539 )
2017
6
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings. ( 28347637 )
2017
7
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
8
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant. ( 26315042 )
2015
9
Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico. ( 26576310 )
2015
10
Transient Neonatal Diabetes Mellitus followed by recurrent asymptomatic hypoglycaemia: a case report. ( 26631065 )
2015
11
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. ( 26322169 )
2015
12
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. ( 24569603 )
2014
13
Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. ( 24859512 )
2014
14
6q24 transient neonatal diabetes mellitus: the first case report from China. ( 25316252 )
2014
15
Treatment of transient neonatal diabetes mellitus: insulin pump or insulin glargine? Our experience. ( 25437016 )
2014
16
Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. ( 24552466 )
2014
17
Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. ( 23748067 )
2013
18
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. ( 23385738 )
2013
19
Insulin pump therapy in transient neonatal diabetes mellitus. ( 24904869 )
2013
20
Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. ( 22547676 )
2012
21
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. ( 22749773 )
2012
22
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. ( 22768014 )
2011
23
Transient neonatal diabetes mellitus caused by a de novoABCC8 gene mutation. ( 21738553 )
2011
24
A case of transient neonatal diabetes mellitus. ( 21131807 )
2010
25
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. ( 20412110 )
2010
26
Transient neonatal diabetes mellitus type 1. ( 20803656 )
2010
27
An oral sulfonylurea in the treatment of transient neonatal diabetes mellitus. ( 19446154 )
2009
28
Transient neonatal diabetes mellitus in an extremely preterm infant. ( 21686427 )
2009
29
Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus. ( 19012334 )
2008
30
Transient neonatal diabetes mellitus in extremely preterm infant. ( 18192332 )
2008
31
Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6. ( 18486206 )
2008
32
Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome. ( 17366578 )
2007
33
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24. ( 17220064 )
2006
34
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. ( 16816970 )
2006
35
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus. ( 16402210 )
2006
36
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
37
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. ( 16205880 )
2005
38
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
39
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region. ( 15924231 )
2005
40
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. ( 15286800 )
2004
41
Transient neonatal diabetes mellitus: a patient report. ( 14513885 )
2003
42
Transient neonatal diabetes mellitus, type 4, type 1 diabetes mellitus, or MODY: which disease is it, anyway? ( 12014522 )
2002
43
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. ( 11935319 )
2002
44
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. ( 11515730 )
2001
45
A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. ( 11448939 )
2001
46
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. ( 11297535 )
2001
47
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. ( 10757646 )
2000
48
An imprinted locus associated with transient neonatal diabetes mellitus. ( 10699182 )
2000
49
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. ( 10204843 )
1999
50
Transient neonatal diabetes mellitus or an exaggerated steroid response? A case study. ( 9592462 )
1998

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 GRCh37 Chromosome 6, 29640983: 29640990
14 ZFP57 NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs) deletion Pathogenic rs606231123 GRCh38 Chromosome 6, 29673206: 29673213
15 ZFP57 NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 29641164: 29641164
16 ZFP57 NM_001109809.2(ZFP57): c.724G> T (p.Asp242Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 29673387: 29673387

Expression for Diabetes Mellitus, Transient Neonatal, 1

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

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
Show member pathways
11.11 ABCC8 INS KCNJ11
2 10.44 ABCC8 INS KCNJ11

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 signaling GO:0023052 9.4 NLRP2 NLRP7
2 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.37 NLRP2 NLRP7
3 negative regulation of immune response GO:0050777 9.32 NLRP2 NLRP7
4 positive regulation of interleukin-1 beta secretion GO:0050718 9.26 NLRP2 NLRP7
5 DNA methylation involved in gamete generation GO:0043046 9.16 DNMT3L FKBP6
6 regulation of gene expression by genetic imprinting GO:0006349 8.96 DNMT3L ZFP57
7 regulation of gene expression GO:0010468 8.92 INS NLRP2 NLRP7 PEG3

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 for Diabetes Mellitus, Transient Neonatal, 1

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