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2,115 Possible Causes for Asymptomatic Hyperammonemia (2- to 5-fold Increase), Osteogenesis Imperfecta

Did you mean: Asymptomatic Hyperammonemia (2- to 5-fold Increase, Osteogenesis Imperfecta

  • Coxa Vara

    Abstract The purpose of this study was to determine the incidence and clinical presentation of coxa vara in 283 patients with osteogenesis imperfecta (OI).[ncbi.nlm.nih.gov] Abstract In osteogenesis imperfecta (OI) because of bone fragility, deformities in load bearing regions of the body such as femoral neck and proximal femur are expected.[online.boneandjoint.org.uk] Abstract Fractures of the proximal femur frequently occur in children with osteogenesis imperfecta or fibrous dyplasia and may lead to progressive coxa vara and a "shepherds[ncbi.nlm.nih.gov]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Osteoporosis

    Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I.[ncbi.nlm.nih.gov] Considering the lack of other osteogenesis imperfecta (OI) symptoms and signs, the patient's illness can be classified as mild.[ncbi.nlm.nih.gov] Apart from greyish-tinged sclera, no other extraskeletal features of osteogenesis imperfecta were identified.[ncbi.nlm.nih.gov]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Skeletal Dysplasia

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by fragile bones.[ncbi.nlm.nih.gov] IMPERFECTA, TYPE I; OI1 166210 OSTEOGENESIS IMPERFECTA, TYPE II; OI2 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 259420 OSTEOGENESIS IMPERFECTA, TYPE III; OI3 Molecular[ncbi.nlm.nih.gov] Osteogenesis imperfecta is characterized by low bone mineral density and fragile bone.[ncbi.nlm.nih.gov]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Cleidocranial Dysplasia

    imperfecta, hypophosphatasia, hypothyroidism, progeeria and Yunis-Varon syndrome.[mirc.luriechildrens.org] Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.Treatment includes[en.wikipedia.org] […] seen with osteopetrosis, Paget disease and with Thorotrast administration Wormian bones can bee seen with hypothyroidism, Down Syndrome, cretinism, pyknodysostosis, and osteogenesis[learningradiology.com]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • X-Linked Osteoporosis with Fractures

    Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121)[ncbi.nlm.nih.gov] Classification The first classification of osteogenesis imperfecta was by Looser, in 1906 who divided the condition into two forms, osteogenesis imperfecta congenita (also[radiopaedia.org] Clinical utility gene card for: osteogenesis imperfecta. Eur J Hum Genet 2013 ;21: 698 - 699 8. Sillence DO.[nejm.org]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Hyperuricemia

    Keywords Gout Osteogenesis Imperfecta Hyperuricemia Osteogenesis Imperfecta Type Japanese Family These keywords were added by machine and not by the authors.[doi.org] Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2.[ncbi.nlm.nih.gov] Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencingA ketogenic diet impairs the ability[en.wikipedia.org]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Osteogenesis Imperfecta

    Reviewed November 2007 What is osteogenesis imperfecta? Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones.[web.archive.org] Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term " osteogenesis imperfecta " means imperfect bone formation.[web.archive.org] There is no cure available yet for osteogenesis imperfecta.[symptoma.com]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Osteopenia and Osteoporosis

    The young baby who has a history of multiple fractures may have a genetic disease commonly classified as Osteogenesis Imperfecta.[complexchild.org] imperfecta are other entities that present with osteoporosis during their course.[rad.washington.edu] imperfecta, renal osteodystrophia, and Paget disease).[joomr.org]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Bruck Syndrome

    Abstract We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia.[doi.org] Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex.[ncbi.nlm.nih.gov] Abstract Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex.[doi.org]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)
  • Kuskokwim Disease

    Abstract We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia.[doi.org] Abstract Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex.[doi.org] Deborah Krakow and Yasemin Alanay, FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome, Osteogenesis Imperfecta, 10.1016/B978-0-12-397165-4.00015-0, (151-157[doi.org]

    Missing: Asymptomatic Hyperammonemia (2- to 5-fold Increase)

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