MCID: DBT013
MIFTS: 25

Diabetes Mellitus, 6q24-Related Transient Neonatal

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

Aliases & Classifications for Diabetes Mellitus, 6q24-Related Transient Neonatal

MalaCards integrated aliases for Diabetes Mellitus, 6q24-Related Transient Neonatal:

Name: Diabetes Mellitus, 6q24-Related Transient Neonatal 25
Transient Neonatal Diabetes Mellitus 1 43 29 6
6q24-Related Transient Neonatal Diabetes Mellitus 43 70
6q24-Tndm 25 43
Tndm Type 1 43

Characteristics:

GeneReviews:

25
Penetrance Reduced penetrance of the 6q24-tndm has rarely been described, but has been noted in sibs of affected individuals. the sibs reported did not have a history of neonatal diabetes mellitus but were found to have either a paternal duplication of 6q24 or biallelic zfp57 pathogenic variants [valerio et al 2004, boonen et al 2013].

Classifications:



External Ids:

UMLS 70 C3711391

Summaries for Diabetes Mellitus, 6q24-Related Transient Neonatal

MedlinePlus Genetics : 43 6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life.Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.

MalaCards based summary : Diabetes Mellitus, 6q24-Related Transient Neonatal, also known as transient neonatal diabetes mellitus 1, is related to transient neonatal diabetes mellitus and paternal uniparental disomy of chromosome 6. An important gene associated with Diabetes Mellitus, 6q24-Related Transient Neonatal is ZFP57 (ZFP57 Zinc Finger Protein). Affiliated tissues include tongue and pancreas.

GeneReviews: NBK1534

Related Diseases for Diabetes Mellitus, 6q24-Related Transient Neonatal

Graphical network of the top 20 diseases related to Diabetes Mellitus, 6q24-Related Transient Neonatal:



Diseases related to Diabetes Mellitus, 6q24-Related Transient Neonatal

Symptoms & Phenotypes for Diabetes Mellitus, 6q24-Related Transient Neonatal

Drugs & Therapeutics for Diabetes Mellitus, 6q24-Related Transient Neonatal

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, 6q24-Related Transient Neonatal

Genetic Tests for Diabetes Mellitus, 6q24-Related Transient Neonatal

Genetic tests related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

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

Anatomical Context for Diabetes Mellitus, 6q24-Related Transient Neonatal

MalaCards organs/tissues related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

40
Tongue, Pancreas

Publications for Diabetes Mellitus, 6q24-Related Transient Neonatal

Articles related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

(show all 31)
# Title Authors PMID Year
1
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 25 6
18622393 2008
2
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. 25 6
18197189 2008
3
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 25 61
23150280 2013
4
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. 25
23385738 2013
5
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. 25
22768014 2011
6
Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. 25
20668833 2010
7
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. 25
19496964 2010
8
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 25
17446535 2007
9
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 25
17213273 2007
10
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. 25
17341487 2007
11
Neonatal diabetes mellitus: a disease linked to multiple mechanisms. 25
17349054 2007
12
Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region. 25
16971482 2007
13
Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. 25
17084362 2006
14
ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. 25
15888726 2005
15
Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. 25
15451908 2004
16
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. 25
15286800 2004
17
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. 25
15210671 2004
18
Neonatal and very-early-onset diabetes mellitus. 25
15013476 2004
19
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. 25
12378186 2002
20
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. 25
11935319 2002
21
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. 25
11297535 2001
22
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. 25
10923638 2000
23
Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. 25
10615957 2000
24
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. 25
9450188 1997
25
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. 25
8842729 1996
26
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? 25
8071961 1994
27
A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. 25
5493568 1970
28
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. 61
27075368 2016
29
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. 61
26322169 2015
30
Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. 61
25809823 2015
31
Diabetes Mellitus, 6q24-Related Transient Neonatal 61
20301706 2005

Variations for Diabetes Mellitus, 6q24-Related Transient Neonatal

ClinVar genetic disease variations for Diabetes Mellitus, 6q24-Related Transient Neonatal:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFP57 NM_001109809.4(ZFP57):c.1383del (p.Tyr462fs) Deletion Pathogenic 717 rs606231122 GRCh37: 6:29640505-29640505
GRCh38: 6:29672728-29672728
2 ZFP57 NM_001109809.4(ZFP57):c.1372C>G (p.His458Asp) SNV Pathogenic 718 rs79020217 GRCh37: 6:29640516-29640516
GRCh38: 6:29672739-29672739
3 ZFP57 NM_001109809.4(ZFP57):c.743G>A (p.Arg248His) SNV Pathogenic 719 rs77625743 GRCh37: 6:29641145-29641145
GRCh38: 6:29673368-29673368
4 ZFP57 NM_001109809.4(ZFP57):c.829C>A (p.His277Asn) SNV Pathogenic 720 rs78378398 GRCh37: 6:29641059-29641059
GRCh38: 6:29673282-29673282
5 ZFP57 NM_001109809.4(ZFP57):c.898_905del (p.Gly299_Thr300insTer) Deletion Pathogenic 721 rs606231123 GRCh37: 6:29640983-29640990
GRCh38: 6:29673206-29673213
6 ZFP57 NM_001109809.4(ZFP57):c.313_314AG[2] (p.Glu106fs) Microsatellite Pathogenic 716 rs606231121 GRCh37: 6:29643197-29643198
GRCh38: 6:29675420-29675421
7 ZFP57 NM_001109809.5(ZFP57):c.458del (p.Leu153fs) Deletion Pathogenic 998241 GRCh37: 6:29641430-29641430
GRCh38: 6:29673653-29673653
8 ZFP57 NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) SNV Pathogenic 715 rs61730328 GRCh37: 6:29641105-29641105
GRCh38: 6:29673328-29673328
9 ZFP57 NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro) SNV Uncertain significance 904449 GRCh37: 6:29640855-29640855
GRCh38: 6:29673078-29673078
10 ZFP57 NM_001109809.5(ZFP57):c.826C>T (p.Arg276Cys) SNV Uncertain significance 904452 GRCh37: 6:29641062-29641062
GRCh38: 6:29673285-29673285
11 ZFP57 NM_001109809.5(ZFP57):c.1230G>A (p.Pro410=) SNV Uncertain significance 907777 GRCh37: 6:29640658-29640658
GRCh38: 6:29672881-29672881
12 ZFP57 NM_001109809.4(ZFP57):c.724G>T (p.Asp242Tyr) SNV Uncertain significance 522540 rs1554211826 GRCh37: 6:29641164-29641164
GRCh38: 6:29673387-29673387
13 ZFP57 NM_001109809.4(ZFP57):c.495G>A (p.Val165=) SNV Uncertain significance 356217 rs771387494 GRCh37: 6:29641393-29641393
GRCh38: 6:29673616-29673616
14 ZFP57 NM_001109809.4(ZFP57):c.752G>A (p.Arg251His) SNV Uncertain significance 356214 rs774050037 GRCh37: 6:29641136-29641136
GRCh38: 6:29673359-29673359
15 ZFP57 NM_001109809.4(ZFP57):c.285C>T (p.Thr95=) SNV Uncertain significance 356220 rs373253380 GRCh37: 6:29643230-29643230
GRCh38: 6:29675453-29675453
16 ZFP57 NM_001109809.4(ZFP57):c.749G>A (p.Arg250His) SNV Uncertain significance 356215 rs199589695 GRCh37: 6:29641139-29641139
GRCh38: 6:29673362-29673362
17 ZFP57 NM_001109809.4(ZFP57):c.857C>T (p.Pro286Leu) SNV Uncertain significance 356212 rs753928819 GRCh37: 6:29641031-29641031
GRCh38: 6:29673254-29673254
18 ZFP57 NM_001109809.4(ZFP57):c.553A>G (p.Ser185Gly) SNV Uncertain significance 356216 rs755902229 GRCh37: 6:29641335-29641335
GRCh38: 6:29673558-29673558
19 ZFP57 NM_001109809.4(ZFP57):c.277C>G (p.Leu93Val) SNV Uncertain significance 356221 rs369213004 GRCh37: 6:29643238-29643238
GRCh38: 6:29675461-29675461
20 ZFP57 NM_001109809.4(ZFP57):c.798G>A (p.Lys266=) SNV Uncertain significance 356213 rs886061285 GRCh37: 6:29641090-29641090
GRCh38: 6:29673313-29673313
21 ZFP57 NM_001109809.5(ZFP57):c.843C>T (p.His281=) SNV Likely benign 904451 GRCh37: 6:29641045-29641045
GRCh38: 6:29673268-29673268
22 ZFP57 NM_001109809.4(ZFP57):c.1118C>G (p.Ser373Cys) SNV Likely benign 130769 rs193232883 GRCh37: 6:29640770-29640770
GRCh38: 6:29672993-29672993
23 ZFP57 NM_001109809.5(ZFP57):c.732T>C (p.Ser244=) SNV Likely benign 905243 GRCh37: 6:29641156-29641156
GRCh38: 6:29673379-29673379
24 ZFP57 NM_001109809.4(ZFP57):c.113G>A (p.Arg38Gln) SNV Likely benign 130770 rs142917604 GRCh37: 6:29644668-29644668
GRCh38: 6:29676891-29676891
25 ZFP57 NM_001109809.4(ZFP57):c.1086T>C (p.Thr362=) SNV Likely benign 130768 rs61730326 GRCh37: 6:29640802-29640802
GRCh38: 6:29673025-29673025
26 ZFP57 NM_001109809.4(ZFP57):c.1472C>G (p.Thr491Ser) SNV Likely benign 356211 rs184974475 GRCh37: 6:29640416-29640416
GRCh38: 6:29672639-29672639
27 ZFP57 NM_001109809.4(ZFP57):c.475A>T (p.Thr159Ser) SNV Likely benign 356219 rs201703858 GRCh37: 6:29641413-29641413
GRCh38: 6:29673636-29673636
28 ZFP57 NM_001109809.4(ZFP57):c.491G>A (p.Arg164Gln) SNV Likely benign 356218 rs200541066 GRCh37: 6:29641397-29641397
GRCh38: 6:29673620-29673620
29 ZFP57 NM_001109809.5(ZFP57):c.532T>C (p.Tyr178His) SNV Likely benign 905244 GRCh37: 6:29641356-29641356
GRCh38: 6:29673579-29673579
30 ZFP57 NM_001109809.4(ZFP57):c.112C>T (p.Arg38Trp) SNV Benign 356222 rs114772002 GRCh37: 6:29644669-29644669
GRCh38: 6:29676892-29676892
31 ZFP57 NM_001109809.4(ZFP57):c.374G>A (p.Arg125Gln) SNV Benign 130774 rs114591600 GRCh37: 6:29641514-29641514
GRCh38: 6:29673737-29673737
32 ZFP57 NM_001109809.4(ZFP57):c.593A>G (p.Asn198Ser) SNV Benign 130771 rs9461544 GRCh37: 6:29641295-29641295
GRCh38: 6:29673518-29673518
33 ZFP57 NM_001109809.5(ZFP57):c.937A>G (p.Arg313Gly) SNV Benign 904450 GRCh37: 6:29640951-29640951
GRCh38: 6:29673174-29673174
34 ZFP57 NM_001109809.4(ZFP57):c.559C>T (p.Arg187Cys) SNV Benign 130775 rs61730330 GRCh37: 6:29641329-29641329
GRCh38: 6:29673552-29673552
35 ZFP57 NM_001109809.4(ZFP57):c.1103A>T (p.Asp368Val) SNV Benign 130773 rs2535241 GRCh37: 6:29640785-29640785
GRCh38: 6:29673008-29673008
36 ZFP57 NM_001109809.4(ZFP57):c.783C>T (p.Cys261=) SNV Benign 130772 rs61730328 GRCh37: 6:29641105-29641105
GRCh38: 6:29673328-29673328

Expression for Diabetes Mellitus, 6q24-Related Transient Neonatal

Search GEO for disease gene expression data for Diabetes Mellitus, 6q24-Related Transient Neonatal.

Pathways for Diabetes Mellitus, 6q24-Related Transient Neonatal

GO Terms for Diabetes Mellitus, 6q24-Related Transient Neonatal

Molecular functions related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.96 ZFP57 PLAGL1
2 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.62 ZFP57 PLAGL1

Sources for Diabetes Mellitus, 6q24-Related Transient Neonatal

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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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