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774 Possible Causes for Autosomal Recessive, Exertional Dyspnea

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] A woman in her 70s was admitted with progressive dyspnea on exertion.[] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[]

  • 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[] This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[] The transmission is autosomal dominant in 75% of cases and autosomal recessive in the remaining 25%.[]

  • Cystic Fibrosis

    From Wikidata Jump to navigation Jump to search autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.[] Dyspnea on exertion, history of chest pain, recurrent sinusitis, nasal polyps, and hemoptysis may also occur.[] . • For patients with cystic fibrosis who have both mild chronic hypoxemia and dyspnea on exertion, we suggest that home oxygen therapy be prescribed (conditional recommendation[]

  • Thalassemia

    Abstract β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide.[] Patients may claim frequent headaches, dizziness, exertional dyspnea and palpitations.[] Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis.[]

  • Dilated Cardiomyopathy

    Mucolipidosis III alpha/beta (ML III alpha/beta) is an autosomal recessive lysosomal storage disorder caused by N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase[] Left ventricular dysfunction causes exertional dyspnea and fatigue due to elevated left ventricular diastolic pressure and low cardiac output.[] We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia.[]

  • Hemochromatosis-related Cardiomyopathy

    Etiology Two types of the disease have been described, both being transmitted in an autosomal recessive way.[] Important items in the review of systems: angina, dyspnea, dyspnea on exertion, palpitations, lower extremity edema, diarrhea, flushing, dysphagia, urinary frequency, change[] Type 3 hemochromatosis is inherited as an autosomal recessive disorder.[]

  • Iron Deficiency

    Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation[] Typical anemia symptoms include: Fatigue, weakness Irritability Exercise/feeding intolerance Exertional dyspnea Headache, vertigo Pale skin Symptoms of iron deficiency include[] These signs and symptoms, including lethargy, malaise, headaches, pallor, decreased activity tolerance, tachycardia, palpitations, and dyspnea on exertion may result from[]

  • Alpha-1 Antitrypsin Deficiency

    ORPHA:60 Synonym(s): - Prevalence: 1-5 / 10 000 Inheritance: Autosomal recessive Age of onset: All ages ICD-10: E88.0 OMIM: 613490 UMLS: C0221757 C3501835 MeSH: C531610 D019896[] […] on exertion and shortness of breath.[] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[]

  • Iron Deficiency Anemia

    Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance.[] Treatment Transfusion should be considered for patients of any age with IDA complaining of symptoms such as fatigue or dyspnea on exertion.[] Abstract Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation[]

  • Sickle Cell Disease

    Abstract Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels.[] He presented with progressive severe dyspnea on exertion and lower extremity edema.[] Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal hemoglobin S and is associated with high morbidity and mortality.[]

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