TNDM
MCID: DBT013
MIFTS: 23

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

Genetic diseases, Metabolic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Diabetes Mellitus, 6q24-Related Transient Neonatal

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Genetics Home Reference:21 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 neonatal diabetes mellitus and beckwith-wiedemann syndrome, and has symptoms including An important gene associated with Diabetes Mellitus, 6q24-Related Transient Neonatal is ZFP57 (ZFP57 zinc finger protein). Related mouse phenotype other.

Description from OMIM:46 601410

GeneReviews summary for dmtn

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

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

Name: Diabetes Mellitus, 6q24-Related Transient Neonatal 19 20
6q24-Related Transient Neonatal Diabetes Mellitus 21 62
Diabetes Mellitus, Transient Neonatal, 1 46 62
Chromosome 6-Associated Transient Diabetes Mellitus 19
 
Transient Neonatal Diabetes Mellitus 1 21
Tndm Type 1 21
6q24-Tndm 21
Tndm 19


Classifications:



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

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



Diseases related to diabetes mellitus, 6q24-related transient neonatal

Symptoms for Diabetes Mellitus, 6q24-Related Transient Neonatal

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Symptoms by clinical synopsis from OMIM:

601410

Clinical features from OMIM:

601410

HPO human phenotypes related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

id Description Frequency HPO Source Accession
1 intrauterine growth retardation HP:0001511
2 severe failure to thrive HP:0001525
3 dehydration HP:0001944
4 hyperglycemia HP:0003074
5 transient neonatal diabetes mellitus HP:0008255

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

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, 6q24-Related Transient Neonatal

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

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

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

id Genetic test Affiliating Genes
1 Diabetes Mellitus, 6q24-Related Transient Neonatal20 ZFP57

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

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Animal Models for Diabetes Mellitus, 6q24-Related Transient Neonatal or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0PLAGL1, ZFP57

Publications for Diabetes Mellitus, 6q24-Related Transient Neonatal

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

idTitleAuthorsYear
1
Diabetes Mellitus, 6q24-Related Transient Neonatal (20301706)
1993

Variations for Diabetes Mellitus, 6q24-Related Transient Neonatal

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, 6q24-Related Transient Neonatal:

64
id Symbol AA change Variation ID SNP ID
1ZFP57p.Arg166HisVAR_054771
2ZFP57p.His193AsnVAR_054772
3ZFP57p.His374AspVAR_054773

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

6
id Gene Name Type Significance SNP ID Assembly Location
1ZFP57NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)single nucleotide variantPathogenicrs61730328GRCh37Chr 6, 29641105: 29641105
2ZFP57ZFP57, 2-BP DEL, 257AGdeletionPathogenic
3ZFP57ZFP57, 1-BP DEL, 1323CdeletionPathogenic
4ZFP57NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)single nucleotide variantPathogenicrs79020217GRCh37Chr 6, 29640516: 29640516
5ZFP57NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)single nucleotide variantPathogenicrs77625743GRCh37Chr 6, 29641145: 29641145
6ZFP57NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)single nucleotide variantPathogenicrs78378398GRCh37Chr 6, 29641059: 29641059
7ZFP57ZFP57, 8-BP DEL, NT838deletionPathogenic

Expression for genes affiliated with Diabetes Mellitus, 6q24-Related Transient Neonatal

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Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, 6q24-Related Transient Neonatal

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

Pathways for genes affiliated with Diabetes Mellitus, 6q24-Related Transient Neonatal

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Compounds for genes affiliated with Diabetes Mellitus, 6q24-Related Transient Neonatal

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

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Products for genes affiliated with Diabetes Mellitus, 6q24-Related Transient Neonatal

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  • Antibodies
  • Proteins
  • Lysates

Sources for Diabetes Mellitus, 6q24-Related Transient Neonatal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet