TNDM
MCID: DBT013
MIFTS: 38

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

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

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Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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: 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:47 601410,610374,610582

GeneReviews summary for dmtn

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

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Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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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 19 20
diabetes mellitus, transient neonatal, 1 47 62
tndm 19 49
chromosome 6-associated transient diabetes mellitus 19
6q24-related transient neonatal diabetes mellitus 21
transient neonatal diabetes mellitus 1 21
transient neonatal diabetes mellitus 49
tndm type 1 21
6q24-tndm 21


External Ids:

ICD10 via Orphanet26 P70.2

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

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17GeneCards, 18GeneDecks
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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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

601410

Clinical features from OMIM:

601410,610374,610582

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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Sources:
37MGI
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MGI Mouse Phenotypes related to Diabetes Mellitus, 6q24-Related Transient Neonatal:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.5PLAGL1, ZFP57
2MP:00030128.5PLAGL1, KCNJ11, ABCC8

Publications for Diabetes Mellitus, 6q24-Related Transient Neonatal

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Sources:
52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

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

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 55Reactome, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters
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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

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Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience
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Compounds related to Diabetes Mellitus, 6q24-Related Transient Neonatal according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cibenzoline459.6KCNJ11, ABCC8
2nicorandil45 2910.6KCNJ11, ABCC8
3mgadp459.6KCNJ11, ABCC8
4cromakalim45 2910.6ABCC8, KCNJ11
5minoxidil45 29 1111.6KCNJ11, ABCC8
6repaglinide51 45 1111.6KCNJ11, ABCC8
7gliclazide45 51 1111.5KCNJ11, ABCC8
8glimepiride45 51 1111.5ABCC8, KCNJ11
9sulfonylurea459.5KCNJ11, ABCC8
10katp459.4KCNJ11, ABCC8
11diazoxide45 61 29 1112.4KCNJ11, ABCC8
12tolbutamide45 29 51 1112.3ABCC8, KCNJ11
13pip2459.3KCNJ11, ABCC8
14glibenclamide45 29 51 6112.2KCNJ11, ABCC8
15metformin45 51 1111.0KCNJ11, ABCC8

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

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, 6q24-Related Transient Neonatal

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet