MCID: DBT064
MIFTS: 34

Diabetes Mellitus, Transient Neonatal, 1 malady

Genetic diseases, Rare diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 1

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Diabetes Mellitus, Transient Neonatal, 1, Aliases & Descriptions:

Name: Diabetes Mellitus, Transient Neonatal, 1 45 10 60
Transient Neonatal Diabetes Mellitus 41 47 60
Diabetes Mellitus, Transient Neonatal 45 41
Tndm 41 47
 
Chromosome 6-Associated Transient Diabetes Mellitus 41
Diabetes Mellitus, 6q24-Related Transient Neonatal 41
Tndm1 41
Dmtn 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
transient neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal


External Ids:

OMIM45 601410
Orphanet47 99886
ICD10 via Orphanet26 P70.2

Summaries for Diabetes Mellitus, Transient Neonatal, 1

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OMIM:45 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare... (601410) more...

MalaCards based summary: Diabetes Mellitus, Transient Neonatal, 1, also known as transient neonatal diabetes mellitus, is related to diabetes mellitus, 6q24-related transient neonatal and neonatal diabetes mellitus, and has symptoms including intrauterine growth retardation, severe failure to thrive and dehydration. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 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.

NIH Rare Diseases:41 Transient neonatal diabetes mellitus (tndb) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. these cases are referred to as 6q24-related tndb; most (but not all) of these cases are not inherited. other genetic causes include mutations in the kcnj11 and abcc8 genes, which usually cause permanent neonatal diabetes. treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin. last updated: 8/28/2012

Related Diseases for Diabetes Mellitus, Transient Neonatal, 1

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Diseases in the Neonatal Diabetes Mellitus family:

diabetes mellitus, transient neonatal, 1 Diabetes Mellitus, Transient Neonatal, 3
Diabetes Mellitus, Transient Neonatal 2 Diabetes Mellitus, 6q24-Related Transient Neonatal
Diabetes Mellitus, Kcnj11-Related Transient Neonatal Abcc8-Related Transient Neonatal Diabetes Mellitus 2

Diseases related to Diabetes Mellitus, Transient Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, 6q24-related transient neonatal31.3HYMAI, PLAGL1
2neonatal diabetes mellitus30.5PLAGL1, KCNJ11, ABCC8
3diabetes mellitus, permanent neonatal30.4ABCC8, KCNJ11
4beckwith-wiedemann syndrome30.2ABCC8, ZFP57, PLAGL1
5diabetes mellitus, transient neonatal 210.7
6diabetes mellitus, transient neonatal, 310.6
7macroglossia10.6
8paternal uniparental disomy of chromosome 610.6
9abcc8-related transient neonatal diabetes mellitus 210.5
10diabetes mellitus, kcnj11-related transient neonatal10.3
11duchenne muscular dystrophy10.1
12dengue hemorrhagic fever10.1
13maturity-onset diabetes of the young10.1
14diabetes mellitus, insulin-dependent10.0KCNJ11, ABCC8
15hyperinsulinemic hypoglycemia, familial, 210.0KCNJ11, ABCC8
16hyperinsulinemic hypoglycemia10.0KCNJ11, ABCC8
17hyperammonemia multi-gene panels10.0ABCC8, KCNJ11
18mody, type ii10.0KCNJ11, ABCC8
19glucose intolerance9.9KCNJ11, ABCC8
20insulinoma9.9ABCC8, KCNJ11
21hypoglycemia9.9KCNJ11, ABCC8
22hyperinsulinism9.9KCNJ11, ABCC8
23hyperglycemia9.9KCNJ11, ABCC8
24cystic fibrosis9.9KCNJ11, ABCC8
25epilepsy syndrome9.8KCNJ11, ABCC8
26diabetes mellitus, noninsulin-dependent9.7ABCC8, KCNJ11

Graphical network of the top 20 diseases related to Diabetes Mellitus, Transient Neonatal, 1:



Diseases related to diabetes mellitus, transient neonatal, 1

Symptoms for Diabetes Mellitus, Transient Neonatal, 1

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Symptoms by clinical synopsis from OMIM:

601410

Clinical features from OMIM:

601410

HPO human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

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, Transient Neonatal, 1

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Transient Neonatal, 1

Search NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 1

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 1

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Anatomical Context for Diabetes Mellitus, Transient Neonatal, 1

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Animal Models for Diabetes Mellitus, Transient Neonatal, 1 or affiliated genes

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MGI Mouse Phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4PLAGL1, ZFP57
2MP:00030128.2PLAGL1, KCNJ11, ABCC8

Publications for Diabetes Mellitus, Transient Neonatal, 1

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Variations for Diabetes Mellitus, Transient Neonatal, 1

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

62
id Symbol AA change Variation ID SNP ID
1ZFP57p.Arg166HisVAR_054771
2ZFP57p.His193AsnVAR_054772
3ZFP57p.His374AspVAR_054773

Clinvar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:

6
id Gene Variation 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, Transient Neonatal, 1

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Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.

Pathways for genes affiliated with Diabetes Mellitus, Transient Neonatal, 1

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Pathways related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1KCNJ11, ABCC8
2
Show member pathways
9.1KCNJ11, ABCC8
3
Show member pathways
9.1KCNJ11, ABCC8
4
Show member pathways
9.1KCNJ11, ABCC8
5
Show member pathways
9.1ABCC8, KCNJ11
69.1KCNJ11, ABCC8
79.1KCNJ11, ABCC8
89.1KCNJ11, ABCC8
9
Show member pathways
9.1KCNJ11, ABCC8

Compounds for genes affiliated with Diabetes Mellitus, Transient Neonatal, 1

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Compounds related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cibenzoline439.4KCNJ11, ABCC8
2nicorandil43 2810.4KCNJ11, ABCC8
3mgadp439.4KCNJ11, ABCC8
4cromakalim43 2810.4ABCC8, KCNJ11
5minoxidil43 28 1211.4KCNJ11, ABCC8
6repaglinide49 43 1211.4KCNJ11, ABCC8
7gliclazide43 49 1211.3KCNJ11, ABCC8
8glimepiride43 49 1211.3ABCC8, KCNJ11
9sulfonylurea439.3KCNJ11, ABCC8
10katp439.2KCNJ11, ABCC8
11diazoxide43 59 28 1212.2KCNJ11, ABCC8
12tolbutamide43 28 49 1212.1ABCC8, KCNJ11
13pip2439.1KCNJ11, ABCC8
14glibenclamide43 28 49 5912.0KCNJ11, ABCC8
15metformin43 49 1210.8KCNJ11, ABCC8

GO Terms for genes affiliated with Diabetes Mellitus, Transient Neonatal, 1

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Cellular components related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.1KCNJ11, ABCC8

Biological processes related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:00061129.1KCNJ11, ABCC8
2potassium ion transmembrane transportGO:00718059.0KCNJ11, ABCC8
3regulation of insulin secretionGO:00507968.8KCNJ11, ABCC8

Molecular functions related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.1KCNJ11, ABCC8

Products for genes affiliated with Diabetes Mellitus, Transient Neonatal, 1

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Diabetes Mellitus, Transient Neonatal, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet