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51 Possible Causes for Congenital Proteinuria Type 2

  • Neuraminidase 1 Deficiency

    Professor Kenneth BM Reid FRS, is Director at the MRC Immunochemistry Unit, Department of Biochemistry at the University of Oxford. Professor Reid is also a Fellow of the European Molecular Biology Organisation and is a Founder member of the Academy of Medical Sciences. In addition to being a member of many[…][books.google.com]

  • Megaloblastic Anemia

    Megaloblastic anemia type 1 (MGA1) is characterized by megaloblastic anemia due to congenital selective vitamin B(12) malabsorption and proteinuria.[ncbi.nlm.nih.gov] In the present study, we describe 2 Israeli Jewish patients with MGA1 and isolated proteinuria.[ncbi.nlm.nih.gov]

  • Denys-Drash Syndrome

    Angiotensin converting enzyme inhibitor does not reduce proteinuria in an infant with congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 1995;9:400-10.[saripediatri.org] J Pediatr 1995;126: -2. Birnbacher R, Forster E, Aufricht C.[saripediatri.org]

  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

  • Oculocerebrorenal Syndrome

    Differential diagnosis Differential diagnosis includes Dent disease type 2 which is allelic to OCRL, congenital infections (such as congenital rubella syndrome), Nance-Horan[orpha.net] Perinatal diagnosis may be achieved by detection of low molecular weight proteinuria. Diagnosis is confirmed by genetic screening of OCRL.[orpha.net]

  • Warburg Micro Syndrome 3

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

  • Schwartz-Lelek Syndrome

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

  • Osteoglophonic Dwarfism

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

  • Parastremmatic Dwarfism

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

  • 3M Syndrome Type 1

    , Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL1A2 Ehlers-Danlos[genda.com.ar] , megaconial CLCN5 Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis COL1A1 Caffey disease[genda.com.ar] Ehlers-Danlos syndrome, progeroid form BMP1 Osteogenesis imperfecta CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CFL2 Nemaline myopathy CHKB Muscular dystrophy, congenital[genda.com.ar]

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