Diabetes Mellitus, Permanent Neonatal malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Metabolic diseases
Aliases & Descriptions for Diabetes Mellitus, Permanent Neonatal:
Orphanet epidemiological data:53
developmental delay-epilepsy-neonatal diabetes syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
permanent neonatal diabetes mellitus:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (Poland),1-9/1000000 (Netherlands),1-9/1000000 (Slovakia),1-9/1000000 (United States); Age of onset: Antenatal,Infancy,Neonatal
diabetes mellitus, permanent neonatal:
Inheritance: autosomal dominant inheritance
Penetrance: reduced penetrance has been seen in pndm caused by pathogenic variants in kcnj11 and abcc8 [flanagan et al 2007]...
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Endocrine diseases
OMIM:51 Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a... (606176) more...
MalaCards based summary: Diabetes Mellitus, Permanent Neonatal, also known as permanent neonatal diabetes mellitus, is related to neonatal diabetes mellitus and abcc8-related permanent neonatal diabetes mellitus, and has symptoms including Array, Array and Array. An important gene associated with Diabetes Mellitus, Permanent Neonatal is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include pancreas and heart, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.
Disease Ontology:11 A neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene.
Genetics Home Reference:25 Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. 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.
NIH Rare Diseases:47 Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases). Last updated: 8/24/2012
UniProtKB/Swiss-Prot:69 Diabetes mellitus, permanent neonatal: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.
GeneReviews for NBK1447
Human phenotypes related to Diabetes Mellitus, Permanent Neonatal:53 63 (show all 52)
UMLS symptoms related to Diabetes Mellitus, Permanent Neonatal:seizures, muscle weakness
Drugs for Diabetes Mellitus, Permanent Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal
MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal:35
MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal:40
UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal:69 (show all 60)
Clinvar genetic disease variations for Diabetes Mellitus, Permanent Neonatal:5 (show all 67)
Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal.
Pathways related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:(show all 11)
Cellular components related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:
Biological processes related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Diabetes Mellitus, Permanent Neonatal according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet