Diabetes Mellitus, Permanent Neonatal, 3 (PNDM3)

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OMIM® 57 618857 OMIM Phenotypic Series 57 PS606176 MeSH 44 D003920

MedGen 41 C5394303 CN280869 SNOMED-CT via HPO 68 237598005 249902000 258211005 263681008 26544005 267258002 274783007 276610007 36815008 44913001 45154002 46635009 58593005 80394007 more

UniProtKB/Swiss-Prot : ⁷³ Diabetes mellitus, permanent neonatal 3: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance.

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, 3, is also known as permanent neonatal diabetes mellitus 3. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 3 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are muscle weakness and type i diabetes mellitus

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618857 (Updated 05-Mar-2021)

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

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