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122 Possible Causes for Proprotein Convertase 1 Deficiency

  • Obesity

    1 deficiency.[doi.org] N Engl J Med 333 : 1386 – 1390 42 1997 Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.[doi.org] Nat Genet 16 : 303 – 306 43 , , , , , , , , , , , , , , , , , , , , , 2003 Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase[doi.org]

  • Diabetes Mellitus

    Abstract Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and[ncbi.nlm.nih.gov]

  • Familial Hypercholesterolemia

    2 Propionic Acidemia 6 Proprotein Convertase 1/3 Deficiency 7 Prostate Cancer 9 Prothrombin Deficiency, Congenital 3 Protoporphyria, Erythropoietic, X-Linked 3 Proud Levine[preventiongenetics.com] Progressive Osseous Heteroplasia 2 Progressive Sclerosing Poliodystrophy 7 Prolactinoma, Familial 1 Prolonged Electroretinal Response Suppression 2 Proopiomelanocortin Deficiency[preventiongenetics.com] 4 Progressive Familial Heart Block Type 1A 2 Progressive Familial Heart Block Type 1B 2 Progressive Intrahepatic Cholestasis 3 Progressive Myoclonus Epilepsy With Ataxia 1[preventiongenetics.com]

  • Diabetic Ketoacidosis

    Abstract Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy Type 2B

    2 Propionic Acidemia 6 Proprotein Convertase 1/3 Deficiency 7 Prostate Cancer 9 Prothrombin Deficiency, Congenital 3 Protoporphyria, Erythropoietic, X-Linked 3 Proud Levine[preventiongenetics.com] Progressive Osseous Heteroplasia 2 Progressive Sclerosing Poliodystrophy 7 Prolactinoma, Familial 1 Prolonged Electroretinal Response Suppression 2 Proopiomelanocortin Deficiency[preventiongenetics.com] 4 Progressive Familial Heart Block Type 1A 2 Progressive Familial Heart Block Type 1B 2 Progressive Intrahepatic Cholestasis 3 Progressive Myoclonus Epilepsy With Ataxia 1[preventiongenetics.com]

  • Kallmann Syndrome

    Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.[ncbi.nlm.nih.gov]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    2 Propionic Acidemia 6 Proprotein Convertase 1/3 Deficiency 7 Prostate Cancer 9 Prothrombin Deficiency, Congenital 3 Protoporphyria, Erythropoietic, X-Linked 3 Proud Levine[preventiongenetics.com] Progressive Osseous Heteroplasia 2 Progressive Sclerosing Poliodystrophy 7 Prolactinoma, Familial 1 Prolonged Electroretinal Response Suppression 2 Proopiomelanocortin Deficiency[preventiongenetics.com] 4 Progressive Familial Heart Block Type 1A 2 Progressive Familial Heart Block Type 1B 2 Progressive Intrahepatic Cholestasis 3 Progressive Myoclonus Epilepsy With Ataxia 1[preventiongenetics.com]

  • Combined Oxidative Phosphorylation Defect Type 14

    2 Propionic Acidemia 6 Proprotein Convertase 1/3 Deficiency 7 Prostate Cancer 9 Prothrombin Deficiency, Congenital 3 Protoporphyria, Erythropoietic, X-Linked 3 Proud Levine[preventiongenetics.com] Progressive Osseous Heteroplasia 2 Progressive Sclerosing Poliodystrophy 7 Prolactinoma, Familial 1 Prolonged Electroretinal Response Suppression 2 Proopiomelanocortin Deficiency[preventiongenetics.com] 4 Progressive Familial Heart Block Type 1A 2 Progressive Familial Heart Block Type 1B 2 Progressive Intrahepatic Cholestasis 3 Progressive Myoclonus Epilepsy With Ataxia 1[preventiongenetics.com]

  • Laron Syndrome with Immunodeficiency

    3 Properdin Deficiency, X-Linked 1 Propionic Acidemia 6 Proprotein Convertase 1/3 Deficiency 9 Prostate Cancer 10 Proteasome-associated autoinflammatory syndrome 2 1 Prothrombin[preventiongenetics.com] Prolidase Deficiency 1 Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome 2 Prolonged Electroretinal Response Suppression 3 Proopiomelanocortin Deficiency[preventiongenetics.com] Intrahepatic Cholestasis 4 Progressive Myoclonus Epilepsy With Ataxia 2 Progressive Osseous Heteroplasia 3 Progressive Sclerosing Poliodystrophy 12 Prolactinoma, Familial 1[preventiongenetics.com]

  • Proprotein Convertase 1 Deficiency

    SNP ID Clin Chr 05 pos Sequence Context AA Info Type rs137852821 Pathogenic, Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955] 96,399,020(-) CTAAT(A/G)GAGAA[genecards.org] From NCBI Gene : Body mass index quantitative trait locus 12 Proprotein convertase 1/3 deficiency From UniProt : Proprotein convertase 1 deficiency (PC1 deficiency): Characterized[ghr.nlm.nih.gov] convertase 1 deficiency (PC1 deficiency) The disease is caused by mutations affecting the gene represented in this entry.[uniprot.org]

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