TNDM
MCID: DBT044
MIFTS: 31

Diabetes Mellitus, Transient Neonatal, 3 (TNDM) malady

Genetic diseases, Endocrine diseases, Rare diseases, Metabolic diseases categories
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Summaries for Diabetes Mellitus, Transient Neonatal, 3

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MalaCards based summary: Diabetes Mellitus, Transient Neonatal, 3, also known as transient neonatal diabetes mellitus, is related to diabetes mellitus and permanent neonatal diabetes mellitus, and has symptoms including An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), 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.

Descriptions from OMIM:46 610582,601410,610374

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
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Diabetes Mellitus, Transient Neonatal, 3, Aliases & Descriptions:

Name: Diabetes Mellitus, Transient Neonatal, 3 46
Transient Neonatal Diabetes Mellitus 48 62
 
Tndm 48 62


Classifications:



External Ids:

ICD10 via Orphanet26 P70.2

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

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Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 3:



Diseases related to diabetes mellitus, transient neonatal, 3

Symptoms for Diabetes Mellitus, Transient Neonatal, 3

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Clinical features from OMIM:

610582,601410,610374

HPO human phenotypes related to Diabetes Mellitus, Transient Neonatal, 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 transient neonatal diabetes mellitus HP:0008255

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 3

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Transient Neonatal, 3

Search NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 3

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 3

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Anatomical Context for Diabetes Mellitus, Transient Neonatal, 3

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Animal Models for Diabetes Mellitus, Transient Neonatal, 3 or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Transient Neonatal, 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.0PLAGL1, ZFP57
2MP:00030128.6PLAGL1, KCNJ11, ABCC8

Publications for Diabetes Mellitus, Transient Neonatal, 3

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Variations for Diabetes Mellitus, Transient Neonatal, 3

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

64
id Symbol AA change Variation ID SNP ID
1KCNJ11p.Gly53ArgVAR_026502
2KCNJ11p.Gly53SerVAR_026503
3KCNJ11p.Ile182ValVAR_026510
4KCNJ11p.Cys42ArgVAR_031331

Clinvar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
2KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
3KCNJ11NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482
4KCNJ11NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482

Expression for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 3.

Pathways for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Pathways related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5KCNJ11, ABCC8
2
Show member pathways
9.5KCNJ11, ABCC8
3
Show member pathways
9.5KCNJ11, ABCC8
4
Show member pathways
9.5KCNJ11, ABCC8
5
Show member pathways
9.5ABCC8, KCNJ11
69.5KCNJ11, ABCC8
79.5KCNJ11, ABCC8
89.5KCNJ11, ABCC8
9
Show member pathways
9.5KCNJ11, ABCC8

Compounds for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Compounds related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cibenzoline449.8KCNJ11, ABCC8
2nicorandil44 2810.8KCNJ11, ABCC8
3mgadp449.8KCNJ11, ABCC8
4cromakalim44 2810.8ABCC8, KCNJ11
5minoxidil44 28 1111.7KCNJ11, ABCC8
6repaglinide50 44 1111.7KCNJ11, ABCC8
7gliclazide44 50 1111.7KCNJ11, ABCC8
8glimepiride44 50 1111.7ABCC8, KCNJ11
9sulfonylurea449.6KCNJ11, ABCC8
10katp449.6KCNJ11, ABCC8
11diazoxide44 61 28 1112.6KCNJ11, ABCC8
12tolbutamide44 28 50 1112.5ABCC8, KCNJ11
13pip2449.5KCNJ11, ABCC8
14glibenclamide44 28 50 6112.4KCNJ11, ABCC8
15metformin44 50 1111.2KCNJ11, ABCC8

GO Terms for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Cellular components related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.5KCNJ11, ABCC8

Biological processes related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:0061129.5KCNJ11, ABCC8
2potassium ion transmembrane transportGO:0718059.4KCNJ11, ABCC8
3regulation of insulin secretionGO:0507969.2KCNJ11, ABCC8

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.5KCNJ11, ABCC8

Products for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Diabetes Mellitus, Transient Neonatal, 3

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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