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10 Possible Causes for Mutation in the Natriuretic Peptide Receptor 2 Gene

  • Acromesomelic Dysplasia Type Maroteaux

    Radiology 137:349–355 PubMed CrossRef Google Scholar Tsuji T, Kunieda T (2005) A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for[link.springer.com]

  • Tall Stature-Scoliosis-Macrodactyly of the Great Toes Syndrome

    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]

  • 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]

  • 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]

  • Strudwick 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]

  • 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]

  • 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]

  • 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]

  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

    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]

  • Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

    […] of the natriuretic peptide receptor 2 (NPR2) gene Announcements Am J Med Genet A, 164A, 156-63 Date of publication 2014 Co-researcher Miura K, Kim OH, Lee HR, Namba N, Michigami[snuh.org] , Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK and Rios JJ Education / Career Article Overgrowth syndrome associated with a gain-of-function mutation[snuh.org]

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