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3,181 Possible Causes for Abdominal Pain, Autosomal Recessive

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure.[] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[]

  • Lactose Intolerance

    It is observed in nearly 75% of the world population and is an inherited autosomal recessive trait with incomplete penetrance.[] Fifty percent of RP-G28 subjects with abdominal pain at baseline reported no abdominal pain at the end of treatment and 30 days post treatment (p   0.0190).[] Abstract Acquired delayed-onset hypolactasia is a common autosomal recessive condition.[]

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[] On the third hospital day, the intensity of the upper abdominal pain increased, concomitantly with elevated levels of serum amylase.[] He had been suffering from abdominal pain attacks and liver dysfunction since 18 years of age.[]

  • Cystic Kidney

    It is inherited as an autosomal recessive trait. It was first described by Guido Fanconi and his colleagues in 1951.[] A patient with end-stage renal disease on maintenance hemodialysis developed sudden severe abdominal pain and distension.[] Autosomal Recessive PKD Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1 .[]

  • Porphyria

    Most cases are probably inherited in an autosomal dominant pattern, however, it shows autosomal recessive inheritance in a small number of families.[] Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia.[] Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[]

  • Hereditary Spherocytosis

    […] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive[] pain, splenomegaly and sometimes cholelithiasis.[] This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[]

  • MUTYH-Related Attenuated Familial Adenomatous Polyposis

    MAP is inherited in an autosomal recessive manner.[] pain, anemia, and/or mucosal discharge 4.[] Nonspecific symptoms, such as rectal bleeding, diarrhea and abdominal pain in young people may suggest the presence of one of these syndromes.[]

  • Familial Mediterranean Fever

    Primary ciliary dyskinesia (PCD) is a rare disease, predominantly inherited as an autosomal recessive, with ciliary dysfunction leading to impaired mucociliary clearance,[] Chronic abdominal pain sometimes constitute a major challenge, specially when a patient has two diseases with dominant features of abdominal pain in both.[] […] usually autosomal recessive inherited inflammatory disorder caused by mutations in the mefv gene.[]

  • Familial Adenomatous Polyposis

    People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type.[] A 38-year-old lady presented with abdominal pain, diarrhoea and iron deficiency anemia. There was no history of colorectal cancer in the family.[] Other non-specific complaints such as change in bowel habits, constipation, diarrhea and abdominal pain may occur. 75 to 80% of affected individuals have a family history[]

  • Hyper IgD Syndrome

    Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes[] The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers and varying degree of skin involvement.[] pain and diarrhoea.[]

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