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75 Possible Causes for Pancreatic Agenesis or Hypoplasia

  • Diabetes Mellitus

    The fetus also demonstrated severe pancreatic hypoplasia, gallbladder agenesis and intestinal rotation abnormalities.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] A second pregnancy was terminated due to tetralogy of Fallot and pulmonary hypoplasia secondary to congenital diaphragmatic hernia.[ncbi.nlm.nih.gov]

  • Renal Cysts and Diabetes Syndrome

    hypoplasia / aplasia of kidneys - Anomaly of pancreatic hormones - Arthritis / synovitis / synovial proliferation - Congenital absence / agenesis / aplasia / hypoplasia[csbg.cnb.csic.es] hypoplasia ; Phenotypic variability ; Proteinuria ; Reduced sperm motility ; Renal cyst ; Renal hypoplasia ; Stage 5 chronic kidney disease ; Unilateral renal agenesis ;[mousephenotype.org] 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.[nature.com]

  • Generalized Epilepsy with Febrile Seizures Plus

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

  • Pancreatic Insufficiency

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

  • 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[malacards.org] agenesis and hypoplasia of the dorsal pancreas and accessory pancreatic lobe.[kjronline.org] 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[radiologykey.com]

  • Protein Losing Enteropathy

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

  • 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[icdlist.com] Diabetes mellitus associated with pancreatic disease Diabetes mellitus associated with receptor abnormality Diabetes mellitus due to genetic defect in beta cell function[icdlist.com] […] of cerebellum Atypical diabetes mellitus Congenital hypoplasia of pancreas Diabetes mellitus associated with genetic syndrome Diabetes mellitus associated with hormonal etiology[icdlist.com]

  • 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.[nature.com] Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from[nature.com]

  • Congenital Absence of Ductus Arteriosus

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

  • 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[docplayer.net] Palmoplantar keratoderma - amyotrophy Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar porokeratosis of Mantoux Pancreas agenesis[docplayer.net]

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