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198 Possible Causes for Pancreatic Dysgenesis

  • Familial Isolated Dilated Cardiomyopathy

    […] cell liposarcoma Neuroblastoma Non-polyposis Turcot syndrome Papillary or follicular thyroid carcinoma Partial acquired lipodystrophy Reducing body myopathy Renal tubular dysgenesis[] Sjögren-Larsson syndrome TARP syndrome Williams syndrome Wolfram syndrome X-linked myopathy with postural muscle atrophy X-linked non-syndromic intellectual deficit Familial pancreatic[]

  • Cystic Kidney

    […] fibrosis, intrahepatic biliary dysgenesis and total situs inversus with normal cytogenetics ( Hum Pathol 1988;19:871 ) Gross description Enlarged kidney distorted by variably[] Segmental dysplasia is seen in children with duplex (duplicated) kidney (incomplete fusion of upper and lower poles) Case reports Newborn with bilateral renal dysplasia, severe pancreatic[]

  • Familial Neutropenia

    Reticular dysgenesis 5. Cyclic neutropenia 6. Neutropenia associated with agammaglobulinemia and dysgammaglobulinemia 7.[] Neutropenia associated with pancreatic insufficiency [Shwachman-Diamond syndrome (see page 221) and Pearson syndrome (see page 126); (Chapter 6; Table 6-24)] 9.[]

  • Hereditary Hyperekplexia

    PS233300 Pachyonychia congenita PS167200 Paget disease of bone PS167250 Pancreatic agenesis PS260370 Paragangliomas PS168000 Parietal foramina PS168500 Parkinson disease[] […] dominant PS607634 Osteopetrosis, autosomal recessive PS259700 Otofaciocervical syndrome PS166780 Otosclerosis PS166800 Otospondylmegaepiphyseal dysplasia PS184840 Ovarian dysgenesis[]

  • Congenital Hepatic Fibrosis

    Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, et al. (2008) Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol 172: 417–429.[]

  • Solitary Renal Cyst

    Autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) affects renal and hepatic development (dysgenesis of the portal triad),[] Other clinical associations include cardiac valve disease (particularly mitral valve prolapse 25%), diverticulosis, cerebral aneurysms (5-10%), pancreatic cysts, and seminal[]

  • Laron Syndrome with Immunodeficiency

    8 Renal-Hepatic-Pancreatic Dysplasia 1 Renpenning Syndrome 1 7 Restrictive Dermopathy, Lethal 4 Reticular Dysgenesis 1 Reticulate Acropigmentation Of Kitamura 2 Retinal arteries[] dysgenesis 3 0 Resistance to thyrotropin-releasing hormone syndrome 1 0 Restenosis and angiogenesis 1 0 Reticulate acropigmentation of Kitamura; RAK 1 0 Retinal cone dystrophy[] Autosomal Recessive 4 Renal Tubular Acidosis, Distal, With Hemolytic Anemia 3 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 4 Renal Tubular Dysgenesis[]

  • Neuronal Ceroid Lipofuscinosis

    […] of genetic origin Renal tubulopathy - encephalopathy - liver failure Renal-ear-anal-radial syndrome Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia[] Renal pseudohypoaldosteronism type 1 Renal tubular acidosis type 1a Renal tubular acidosis type 1b Renal tubular acidosis type 1c Renal tubular acidosis type 3 Renal tubular dysgenesis[] […] restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial osteochondritis dissecans Familial osteoectasia Familial osteonecrosis of the femoral head Familial pancreatic[]

  • Pancreatic Cyst

    Pancreatic cystic dysplasia (dysgenesis) presenting as a surgical pathology specimen in a patient with multiple malformations and familial ear pits.[] Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts. Am J Med Genet 2000; 90 :185–187. 238. Drut R, Drut M.[]

  • Pseudohypoaldosteronism of Infancy

    Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Renal-hepatic-pancreatic dysplasia Rheumatoid factor-negative juvenile idiopathic[] […] unilateral Renal hypoplasia Renal hypoplasia, bilateral Renal hypoplasia, unilateral Renal or urinary tract malformation Renal pseudohypoaldosteronism type 1 Renal tubular dysgenesis[]

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