TNDM
MCID: DBT013
MIFTS: 38

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

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Diabetes Mellitus, 6q24-Related Transient Neonatal

About this section
Sources:
22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Genetics Home Reference:22 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: Diabetes Mellitus, 6q24-Related Transient Neonatal, also known as diabetes mellitus, transient neonatal, 1, is related to diabetes mellitus and neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, 6q24-Related Transient Neonatal is ZFP57 (ZFP57 zinc finger protein), and among its related pathways are Potassium Channels and Insulin secretion. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Related mouse phenotypes are other and no phenotypic analysis.

Description from OMIM:48 601410,610374,610582

GeneReviews summary for dmtn

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

About this section
Sources:
20GeneReviews, 21GeneTests, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

diabetes mellitus, 6q24-related transient neonatal 20 21
diabetes mellitus, transient neonatal, 1 48 63
tndm 20 50
chromosome 6-associated transient diabetes mellitus 20
6q24-related transient neonatal diabetes mellitus 22
transient neonatal diabetes mellitus 1 22
transient neonatal diabetes mellitus 50
tndm type 1 22
6q24-tndm 22


External Ids:

ICD10 via Orphanet27 P70.2

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

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 for Diabetes Mellitus, 6q24-Related Transient Neonatal

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

601410

Clinical features from OMIM:

601410,610374,610582

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

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

Drug clinical trials:

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

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

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

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

About this section
Sources:
21GeneTests
See all sources

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

id Genetic test Affiliating Genes
1 Diabetes Mellitus, 6q24-Related Transient Neonatal21 ZFP57

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

About this section

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

About this section
Sources:
38MGI
See all sources

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.5PLAGL1, ZFP57
2MP:00030128.5PLAGL1, KCNJ11, ABCC8

Publications for Diabetes Mellitus, 6q24-Related Transient Neonatal

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZFP57NM_001109809.2(ZFP57): c.783C> A (p.Cys261Ter)single nucleotide variantPathogenicrs61730328GRCh37Chr 6, 29641105: 29641105
2ZFP57NM_001109809.2(ZFP57): c.1372C> G (p.His458Asp)single nucleotide variantPathogenicrs79020217GRCh37Chr 6, 29640516: 29640516
3ZFP57NM_001109809.2(ZFP57): c.743G> A (p.Arg248His)single nucleotide variantPathogenicrs77625743GRCh37Chr 6, 29641145: 29641145
4ZFP57NM_001109809.2(ZFP57): c.829C> A (p.His277Asn)single nucleotide variantPathogenicrs78378398GRCh37Chr 6, 29641059: 29641059

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 56Reactome, 13EMD Millipore, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters
See all sources

Pathways related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KCNJ11, ABCC8
2
Show member pathways
9.3KCNJ11, ABCC8
3
Show member pathways
9.3KCNJ11, ABCC8
4
Show member pathways
9.3KCNJ11, ABCC8
5
Show member pathways
9.3ABCC8, KCNJ11
69.3KCNJ11, ABCC8
79.3KCNJ11, ABCC8
89.3KCNJ11, ABCC8
9
Show member pathways
9.3KCNJ11, ABCC8

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

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
See all sources

Compounds related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cibenzoline469.6KCNJ11, ABCC8
2nicorandil46 3010.6KCNJ11, ABCC8
3mgadp469.6KCNJ11, ABCC8
4cromakalim46 3010.6ABCC8, KCNJ11
5minoxidil46 30 1211.6KCNJ11, ABCC8
6repaglinide52 46 1211.6KCNJ11, ABCC8
7gliclazide46 52 1211.5KCNJ11, ABCC8
8glimepiride46 52 1211.5ABCC8, KCNJ11
9sulfonylurea469.5KCNJ11, ABCC8
10katp469.4KCNJ11, ABCC8
11diazoxide46 62 30 1212.4KCNJ11, ABCC8
12tolbutamide46 30 52 1212.3ABCC8, KCNJ11
13pip2469.3KCNJ11, ABCC8
14glibenclamide46 30 52 6212.2KCNJ11, ABCC8
15metformin46 52 1211.0KCNJ11, ABCC8

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

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.3KCNJ11, ABCC8

Biological processes related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:0061129.3KCNJ11, ABCC8
2potassium ion transmembrane transportGO:0718059.2KCNJ11, ABCC8
3regulation of insulin secretionGO:0507969.0KCNJ11, ABCC8

Molecular functions related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3KCNJ11, ABCC8

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, 6q24-Related Transient Neonatal

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet