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16 Possible Causes for Coxa Valga Deformity with Epiphyseal Dysplasia, Mutation in the Natriuretic Peptide Receptor 2 Gene

  • Epiphyseal Chondrodysplasia Type Miura

    An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.[web.expasy.org] […] with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.[web.expasy.org] Type Positions Description Chain 23 – 1047 Atrial natriuretic peptide receptor 2 Topological domain 479 – 1047 Cytoplasmic Domain 861 – 991 Guanylate cyclase Literature citations[web.expasy.org]

  • Growth Failure

    Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 ( NPR2 ) gene.[frontiersin.org]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Panayiotopoulos Syndrome

    […] of the natriuretic peptide receptor 2 (NPR2) gene.[med.osaka-u.ac.jp] 取得年月日:2014年3月25日 3.三浦弘司 An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.[med.osaka-u.ac.jp] Fujiwara M,Ohata Y,Miyoshi Y,Yamamoto K※,Takeyari S※,Yamamoto T※,Namba N,Ozono K Horm Res Paediatr,81(4):251-257,2014. 26.Overgrowth syndrome associated with a gain-of-function mutation[med.osaka-u.ac.jp]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Macrocephaly

    An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.[invitae.com] Am J Med Genet C Semin Med Genet. 2013; 163C(2):122-30. PMID: 23592320 Miura, K, et al.[invitae.com] Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr. Res. 2015; :None. PMID: 26200704 Miura, K, et al.[invitae.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Juxtacortical Osteosarcoma

    Smooth undulating cortex of long bone metaphysis and pelvis, coxa valga.[radnotes.co.nz] Madelung deformity (epiphyseal arrest volar ulnar distal radius with correponding tilt) DDx dyschondroesteosis (type of dwarfism), Ollier’s disease, multiple epiphyseal dysplasia[radnotes.co.nz]

    Missing: Mutation in the Natriuretic Peptide Receptor 2 Gene
  • Baller-Gerold Syndrome

    […] the natriuretic peptide receptor 2 gene.[karger.com] Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, et al: An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of[karger.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    […] the natriuretic peptide receptor 2 gene.[karger.com] Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, et al: An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of[karger.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Acromesomelic Dysplasia

    Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux , BMC Medical Genetics, 2012, 44, DOI: 10.1186/1471-2350-13-44[paperity.org] […] disorder associated with excessive production of CGMP due to a gain‐of‐function mutation of the natriuretic peptide receptor 2 gene Miura, Miura; Namba, Namba; Fujiwara,[deepdyve.com] Acromesomelic dysplasia, Maroteaux type ( AMDM ; MIM 602875) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in the natriuretic peptide receptor[ctgt.net]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Macrocephaly-Developmental Delay Syndrome

    An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.[invitae.com] Am J Med Genet C Semin Med Genet. 2013; 163C(2):122-30. PMID: 23592320 Miura, K, et al.[invitae.com] Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr. Res. 2015; :None. PMID: 26200704 Miura, K, et al.[invitae.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy

    An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.[invitae.com] Am J Med Genet C Semin Med Genet. 2013; 163C(2):122-30. PMID: 23592320 Miura, K, et al.[invitae.com] Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Pediatr. Res. 2015; :None. PMID: 26200704 Miura, K, et al.[invitae.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia

Further symptoms