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104 Possible Causes for Altered Bowel Function, 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.[] 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[] In conclusion, FAP is a systemic disorder with significant implications for affected patients and family members.[]

  • Gardner Syndrome

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

  • Depression

    [Pediatr Ann. 2018;47(7):e261-e265.]. Copyright 2018, SLACK Incorporated.[] Neuroimaging of her brain suggested pathological changes out of keeping with her age, leading to further investigations including genetic testing for cerebral autosomal dominant[] This includes serious adult psychiatric illnesses such as major depressive disorder, anxiety disorders, and substance abuse.[]

  • Ehlers-Danlos Syndrome

    The paucity of patients described so far makes this disorder poorly defined at clinical level.[] […] blood pressure responses (neurally mediated hypotension or postural orthostatic tachycardia) Functional bowel disorders High, narrow palate Dental crowding Laboratory Tests[] DOMINANT EHLERS-DANLOS SYNDROME, TYPE V EHLERS-DANLOS SYNDROME, TYPE VI EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE[]

  • Hereditary ATTR Amyloidosis

    The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics[] Familial amyloid polyneuropathy Other names FAP Familial amyloid polyneuropathy has an autosomal dominant pattern of inheritance.[] Two modes have been described so far - autosomal dominant type, divided into familial amyloidotic polyneuropathy (FAP) and familial amyloidotic cardiomyopathy, in which two[]

  • Common Variable Immunodeficiency

    Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009; 154(6): 888-94. PubMed Wilmott RW.[] "The biological mechanisms that cause disease symptoms in CVID are still unclear," added Hakonarson, "but this study may suggest that altered function in CLEC16A and its associated[] Autosomal dominant CVID has been linked to chromosome 4q. [24] One study supports the existence of a disease-causing gene for autosomal dominant CVID/IgA deficiency on chromosome[]

  • Amyloidosis

    Abstract Apolipoprotein A-I amyloidosis is a rare, autosomal dominant disorder of APOA-1 gene characterized by the deposition of apolipoprotein A-I in various organs and can[] dominant hereditary polyneuropathy related to the organ deposition of mutant forms of the transthyretin protein (encoded by mutated TTR ) over time.[] Orthopedics Technical Orthopedics Transplantation Kidney and Liver Transplantation (Living Donor) Stem Cell Transplantation Pregnancy and gynecological diseases Fertility Disorders[]

  • Food Allergy

    BACKGROUND/AIMS: We evaluated our 16-year single-center experience of pediatric post-transplant lymphoproliferative disorder (PTLD) cases who underwent liver transplantation[] Frank Austen, Brigham and Women's Hospital, Boston, MA, and approved October 29, 2009 (received for review June 8, 2009) Abstract Altered intestinal barrier function is postulated[] People with autosomal dominant hyper-immunoglobulin E syndrome (HIES) have recurrent bacterial infections of the skin and lungs.[]

  • Diabetes Mellitus

    , The Journal of Pediatrics, 174, (146), (2016).[] In autosomal dominant inheritance, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. Autosomal recessive.[] Most pediatric patients with diabetes have type 1 diabetes mellitus (T1DM) and a lifetime dependence on exogenous insulin.[]

  • Hirschsprung's Disease

    […] of variable length; see Behrman [Nelson textbook of pediatrics, 1992:954-956].[] We conclude that regular follow-up is required to identify HD patients with persistent alterations of bowel function after surgery.[] An autosomal dominant gene causing this disease was recently mapped to chromosome 10q11.2 (refs 1,2), using an interstitial deletion of this region isolated in a cell hybrid[]

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