PNDM3
MCID: DBT102
MIFTS: 14

Diabetes Mellitus, Permanent Neonatal 3 (PNDM3)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal 3

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal 3:

Name: Diabetes Mellitus, Permanent Neonatal 3 56 6
Diabetes Mellitus, Permanent Neonatal 3, with or Without Neurologic Features 56
Pndm3 56

Classifications:



External Ids:

OMIM 56 618857

Summaries for Diabetes Mellitus, Permanent Neonatal 3

OMIM : 56 Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). (618857)

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal 3, is also known as diabetes mellitus, permanent neonatal 3, with or without neurologic features. An important gene associated with Diabetes Mellitus, Permanent Neonatal 3 is ABCC8 (ATP Binding Cassette Subfamily C Member 8).

Related Diseases for Diabetes Mellitus, Permanent Neonatal 3

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal 3

Clinical features from OMIM:

618857

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal 3

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal 3

Genetic Tests for Diabetes Mellitus, Permanent Neonatal 3

Anatomical Context for Diabetes Mellitus, Permanent Neonatal 3

Publications for Diabetes Mellitus, Permanent Neonatal 3

Articles related to Diabetes Mellitus, Permanent Neonatal 3:

# Title Authors PMID Year
1
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 6 56
17668386 2007
2
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 56 6
16885549 2006
3
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 6 56
16613899 2006
4
Molecular basis of neonatal diabetes in Japanese patients. 56
17635943 2007
5
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 56
17213273 2007

Variations for Diabetes Mellitus, Permanent Neonatal 3

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)SNV Pathogenic 9102 rs80356637 11:17491666-17491666 11:17470119-17470119
2 ABCC8 NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)SNV Pathogenic 9103 rs80356642 11:17483314-17483314 11:17461767-17461767
3 ABCC8 NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)SNV Pathogenic 9104 rs80356653 11:17417194-17417194 11:17395647-17395647
4 ABCC8 NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)SNV Pathogenic 9107 rs80356634 11:17496508-17496508 11:17474961-17474961
5 ABCC8 NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)SNV Pathogenic 9108 rs80356651 11:17474698-17474698 11:17453151-17453151
6 ABCC8 NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)SNV Pathogenic 9109 rs193929369 11:17426062-17426062 11:17404515-17404515
7 ABCC8 NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)SNV Pathogenic 9110 rs267606623 11:17498190-17498190 11:17476643-17476643
8 ABCC8 NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)SNV Pathogenic 9111 rs193929360 11:17496466-17496466 11:17474919-17474919
9 ABCC8 NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)SNV Likely pathogenic 35616 rs137852676 11:17417399-17417399 11:17395852-17395852

Expression for Diabetes Mellitus, Permanent Neonatal 3

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

Pathways for Diabetes Mellitus, Permanent Neonatal 3

GO Terms for Diabetes Mellitus, Permanent Neonatal 3

Sources for Diabetes Mellitus, Permanent Neonatal 3

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72 UMLS via Orphanet
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