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4,369 Possible Causes for Autosomal Dominant, Pediatric Disorder

  • Familial Adenomatous Polyposis

    Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[emedicine.medscape.com] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[wikidata.org] In conclusion, FAP is a systemic disorder with significant implications for affected patients and family members.[journals.lww.com]

  • Hereditary Spherocytosis

    The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com] Hans-Christoph Rossbach, THE RULE OF FOUR: A SYSTEMATIC APPROACH TO DIAGNOSIS OF COMMON PEDIATRIC HEMATOLOGIC AND ONCOLOGIC DISORDERS, Fetal and Pediatric Pathology, 24, 6[doi.org]

  • Blue Rubber Bleb Nevus Syndrome

    Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric[floatinghospital.org] "Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency[ncbi.nlm.nih.gov] The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern.[ncbi.nlm.nih.gov]

  • Gardner Syndrome

    Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[scielo.br] Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps[ncbi.nlm.nih.gov] Pediatr Int 2003;45:472-4. [ PUBMED ] 5. Campbell AN, Freedman MH, McClure PD. Autoerythrocyte sensitization. J Pediatr 1983;103:157-60. [ PUBMED ] 6.[ijpm.info]

  • Juvenile Polyp

    Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial . Clin Gastroenterol Hepatol 2005; 3 :264–270. 21.[nature.com] Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of[ncbi.nlm.nih.gov] Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr . 1975 Jan. 86(1):84-8. [Medline] .[emedicine.medscape.com]

  • Cryopyrin-Associated Periodic Syndrome

    Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France. 5 Translational Autoinflammatory Disease Section, NIAMS[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com] Genetic counseling Acute hepatic porphyrias are monogenic hereditary disorders that are transmitted in an autosomal dominant manner (except the hereditary deficit of delta-aminolevulinic[orpha.net]

  • Familial Neutropenia

    […] physician involved in the diagnosis of pediatric bone marrow disorders.[books.google.de] Pedigrees of four of these families were also studied, which pointed to an autosomal dominant form of inheritance.[cags.org.ae] […] suspected pediatric age Corneal disorders ICD9CM Coronary artery disease unstable Cough chronic Creatine kinase elevation Cushings syndrome Cutaneous microvascular occlusion[books.google.com]

  • Pseudohypoparathyroidism

    Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism . 4th ed.[pedsinreview.aappublications.org] PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an[ncbi.nlm.nih.gov] Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders. J Pediatr. 2013;163(4):1202–7. doi: 10.1016/j.jpeds.2013.05.017.[clinicalepigeneticsjournal.biomedcentral.com]

  • Kallmann Syndrome

    Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations.[ncbi.nlm.nih.gov] Kallmann syndrome characterised by hypogonadotropic hypogonadism (HH) and anosmia is genetically heterogeneous with X-linked, autosomal dominant and autosomal recessive forms[ncbi.nlm.nih.gov] Michael Freemark, Obesity and the Endocrine System, Part I: Pathogenesis of Weight Gain in Endocrine and Metabolic Disorders, Pediatric Obesity, 10.1007/978-3-319-68192-4_[doi.org]

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