MCID: DBT013
MIFTS: 23

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 24
Transient Neonatal Diabetes Mellitus 1 25 29 6
6q24-Related Transient Neonatal Diabetes Mellitus 25 72
6q24-Tndm 24 25
Tndm Type 1 25

Characteristics:

GeneReviews:

24
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 72 C3711391

Summaries for Diabetes Mellitus, 6q24-Related Transient Neonatal

Genetics Home Reference : 25 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 paternal uniparental disomy of chromosome 6 and diabetes mellitus. An important gene associated with Diabetes Mellitus, 6q24-Related Transient Neonatal is ZFP57 (ZFP57 Zinc Finger Protein). Affiliated tissues include heart, brain and kidney.

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:

41
Heart, Brain, Kidney, 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
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. 38 4
23150280 2013
2
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. 4
23385738 2013
3
Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. 4
22768014 2011
4
Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. 4
20668833 2010
5
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. 4
19496964 2010
6
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. 4
18622393 2008
7
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. 4
18197189 2008
8
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 4
17446535 2007
9
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 4
17213273 2007
10
Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. 4
17341487 2007
11
Neonatal diabetes mellitus: a disease linked to multiple mechanisms. 4
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. 4
16971482 2007
13
Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. 4
17084362 2006
14
ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. 4
15888726 2005
15
Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. 4
15451908 2004
16
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. 4
15286800 2004
17
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. 4
15210671 2004
18
Neonatal and very-early-onset diabetes mellitus. 4
15013476 2004
19
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. 4
12378186 2002
20
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. 4
11935319 2002
21
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. 4
11297535 2001
22
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. 4
10923638 2000
23
Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. 4
10615957 2000
24
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. 4
9450188 1997
25
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. 4
8842729 1996
26
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome? 4
8071961 1994
27
A case of agenesis of the dorsal pancreas with interventricular septal defect in an infant. 4
5493568 1970
28
Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. 38
27075368 2016
29
Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. 38
26322169 2015
30
Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. 38
25809823 2015
31
Diabetes Mellitus, 6q24-Related Transient Neonatal 38
20301706 2005

Variations for Diabetes Mellitus, 6q24-Related Transient Neonatal

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZFP57 NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter) single nucleotide variant Pathogenic rs61730328 6:29641105-29641105 6:29673328-29673328
2 ZFP57 NM_001109809.4(ZFP57): c.313_314AG[2] (p.Glu106fs) short repeat Pathogenic rs606231121 6:29643197-29643198 6:29675420-29675421
3 ZFP57 NM_001109809.4(ZFP57): c.1383del (p.Tyr462fs) deletion Pathogenic rs606231122 6:29640505-29640505 6:29672728-29672728
4 ZFP57 NM_001109809.4(ZFP57): c.1372C> G (p.His458Asp) single nucleotide variant Pathogenic rs79020217 6:29640516-29640516 6:29672739-29672739
5 ZFP57 NM_001109809.4(ZFP57): c.743G> A (p.Arg248His) single nucleotide variant Pathogenic rs77625743 6:29641145-29641145 6:29673368-29673368
6 ZFP57 NM_001109809.4(ZFP57): c.829C> A (p.His277Asn) single nucleotide variant Pathogenic rs78378398 6:29641059-29641059 6:29673282-29673282
7 ZFP57 NM_001109809.4(ZFP57): c.898_905del (p.Gly299_Thr300insTer) deletion Pathogenic rs606231123 6:29640983-29640990 6:29673206-29673213
8 ZFP57 NM_001109809.4(ZFP57): c.724G> T (p.Asp242Tyr) single nucleotide variant Uncertain significance rs1554211826 6:29641164-29641164 6:29673387-29673387

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

Sources for Diabetes Mellitus, 6q24-Related Transient Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....