Create issue ticket

75 Possible Causes for Pancreatic Agenesis or Hypoplasia

  • Diabetes Mellitus

    The fetus also demonstrated severe pancreatic hypoplasia, gallbladder agenesis and intestinal rotation abnormalities.[] Mutations in GATA6 should be strongly considered in cases of diabetes due to pancreatic hypoplasia or agenesis, and potentially affected family members should be tested regardless[] A second pregnancy was terminated due to tetralogy of Fallot and pulmonary hypoplasia secondary to congenital diaphragmatic hernia.[]

  • Renal Cysts and Diabetes Syndrome

    hypoplasia / aplasia of kidneys - Anomaly of pancreatic hormones - Arthritis / synovitis / synovial proliferation - Congenital absence / agenesis / aplasia / hypoplasia[] hypoplasia ; Phenotypic variability ; Proteinuria ; Reduced sperm motility ; Renal cyst ; Renal hypoplasia ; Stage 5 chronic kidney disease ; Unilateral renal agenesis ;[] TCF2/HNF-1β mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. Prenat. Diagn. 34, 90–93 (2014). 79. Tjora, E. et al.[]

  • Generalized Epilepsy with Febrile Seizures Plus

    Agenesis, Velocardiofacial Syndrome, Partial Atrioventricular Canal, Tetrology Of Fallot, Familial Atrial Fibrillation, Complete Atrioventricular Canal - Ventricle Hypoplasia[] Heart Defects, Ovarian Germ Cell Tumor, Atrioventricular Septal Defect, Tetralogy Of Fallot, Persistent Truncus Arteriosus, Patent Foramen Ovale, Atrial Septal Defect 2, Pancreatic[]

  • Pancreatic Insufficiency

    agenesis.[] CONCLUSIONS: This study demonstrates that recessive PDX1 mutations are a rare but important cause of isolated permanent neonatal diabetes in patients without pancreatic hypoplasia[]

  • Partial Pancreatic Agenesis

    agenesis: Case report and review of literature. ( 25024525 ) Thakur S....Thakur C.S. 2014 15 TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia[] agenesis and hypoplasia of the dorsal pancreas and accessory pancreatic lobe.[] Federle, MD, FACR Key Facts Terminology Complete or partial pancreatic agenesis, aplasia, or hypoplasia Imaging Absence of pancreatic tissue in the expected location of neck[]

  • Protein Losing Enteropathy

    The combination of neonatal diabetes and pancreatic agenesis/hypoplasia should alert the clinician to the possibility of a GATA6 gene abnormality.[] Less frequently, mutations of the GATA6 gene, located on chromosome 18 cause a form of permanent neonatal diabetes resulting from pancreatic hypoplasia or agenesis.[]

  • Maturity-Onset Diabetes of the Young

    hypoplasia, diabetes mellitus, congenital heart disease syndrome Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome[] Diabetes mellitus associated with pancreatic disease Diabetes mellitus associated with receptor abnormality Diabetes mellitus due to genetic defect in beta cell function[] […] of cerebellum Atypical diabetes mellitus Congenital hypoplasia of pancreas Diabetes mellitus associated with genetic syndrome Diabetes mellitus associated with hormonal etiology[]

  • Central Nervous System Cyst

    TCF2/HNF-1β mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia . Prenat. Diagn. 34 , 90–93 (2014). 79.[] Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from[]

  • Congenital Absence of Ductus Arteriosus

    agenesis and hypoplasia of the dorsal pancreas and accessory pancreatic lobe.[] Hypoplasia (partial agenesis) results from the absence of the ventral or dorsal pancreatic anlage.[] Pancreatic Agenesis and Hypoplasia of the Dorsal Pancreas Total agenesis of the pancreas is extremely rare and is incompatible with life.[]

  • Infantile Choroidocerebral Calcification Syndrome

    Pancreatic and cerebellar agenesis Pancreatic hypoplasia - diabetes - heart disease Pancreatic lipomatosis - duodenal stenosis 9 families 20 families 20 2 Pancreatitis, hereditary[] Palmoplantar keratoderma - amyotrophy Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar porokeratosis of Mantoux Pancreas agenesis[]

Further symptoms