TNDM1
MCID: DBT013
MIFTS: 15

Diabetes Mellitus, 6q24-Related Transient Neonatal (TNDM1) malady

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

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

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

Name: Diabetes Mellitus, 6q24-Related Transient Neonatal 23 24
6q24-Related Transient Neonatal Diabetes Mellitus 25 69
Transient Neonatal Diabetes Mellitus 1 24 25
6q24-Tndm 23 25
Chromosome 6-Associated Transient Diabetes Mellitus 24
Neonatal Diabetes Mellitus, 6q24-Related Transient 24
Diabetes Mellitus, Transient Neonatal, 1 69
Tndm Type 1 25
Tndm1 24

Characteristics:

GeneReviews:

23
Penetrance Reduced penetrance of the 6q24-tndm phenotype is rare but has been noted when siblings of affected individuals were found to have an identical paternal duplication of 6q24 but no history of neonatal diabetes mellitus [valerio et al 2004]...

Classifications:



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.

MalaCards based summary : Diabetes Mellitus, 6q24-Related Transient Neonatal, also known as 6q24-related transient neonatal diabetes mellitus, is related to diabetes mellitus, transient neonatal, 1 and neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, 6q24-Related Transient Neonatal is ZFP57 (ZFP57 Zinc Finger Protein).

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:

id Genetic test Affiliating Genes
1 Diabetes Mellitus, 6q24-Related Transient Neonatal 24 ZFP57

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

Publications for Diabetes Mellitus, 6q24-Related Transient Neonatal

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

id Title Authors Year
1
Diabetes Mellitus, 6q24-Related Transient Neonatal ( 20301706 )
1993

Variations for Diabetes Mellitus, 6q24-Related Transient Neonatal

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

6
id 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.317_318delAG (p.Glu106Valfs) deletion Pathogenic rs606231121 GRCh38 Chromosome 6, 29675420: 29675421
3 ZFP57 NM_001109809.2(ZFP57): c.1383delC (p.Tyr462Ilefs) deletion Pathogenic rs606231122 GRCh38 Chromosome 6, 29672728: 29672728
4 ZFP57 NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp) single nucleotide variant Pathogenic rs79020217 GRCh37 Chromosome 6, 29640516: 29640516
5 ZFP57 NM_001109809.2(ZFP57): c.743G> A (p.Arg248His) single nucleotide variant Pathogenic rs77625743 GRCh37 Chromosome 6, 29641145: 29641145
6 ZFP57 NM_001109809.2(ZFP57): c.829C> A (p.His277Asn) single nucleotide variant Pathogenic rs78378398 GRCh37 Chromosome 6, 29641059: 29641059
7 ZFP57 NM_001109809.2(ZFP57): c.898_905delACCCAGGC (p.Thr300Terfs) deletion Pathogenic rs606231123 GRCh37 Chromosome 6, 29640983: 29640990

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

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10 dbSNP
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16 ExPASy
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34 ICD10 via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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