Create issue ticket

1,914 Possible Causes for Autosomal Dominant, Dyspnea, Pediatric Disorder

  • 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] […] formation of cAMP normal appearance Presentation Symptom symptoms of hypocalcemia paresthesia fingertip, toes, perioral abdominal pain, biliary colic muscle cramps, tetany dyspnea[orthobullets.com]

  • Hereditary Hemorrhagic Telangiectasia

    The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[ncbi.nlm.nih.gov] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[ncbi.nlm.nih.gov] He has not experienced worsening hypoxemia or dyspnea and has not developed PAVMs.[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]

  • Tuberous Sclerosis

    Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010.[pediatrics.aappublications.org] In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child.[sharecare.com] The patient was hospitalized 3 months earlier for dyspnea at the Department of Cardiology, where she was diagnosed with heart failure (left ventricle injection fraction: 25[ncbi.nlm.nih.gov]

  • Anemia

    One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[childrenshospital.org] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[orpha.net] Acute anemia presents with symptoms owing to acute blood loss; chronic anemia may present with worsening fatigue, dyspnea, lightheadedness, or chest pain.[ncbi.nlm.nih.gov]

  • Iron Deficiency Anemia

    Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital.[childrenshospital.org] The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload.[ncbi.nlm.nih.gov] Patients may complain of: Fatigue Pallor Weakness Headache Palpitations Dizziness Dyspnea Irritability Poor concentration, impaired development Hair loss Impaired temperature[symptoma.com]

  • Acute Myelocytic Leukemia

    Typical symptoms are spongy and bleeding gums, anemia, fatigue, fever, dyspnea, moderate splenomegaly, joint and bone pain, and repeated infections.[medical-dictionary.thefreedictionary.com] Hasle H: Myelodysplastic and myeloproliferative disorders in children. Curr Opin Pediatr 19 (1): 1-8, 2007.[northshore.org] dominant mode of genetic transmission.[ncbi.nlm.nih.gov]

  • Allergic Asthma

    The most wellknown and best-characterized HIES are the autosomal dominant hyper-IgE syndrome (AD-HIES), which is due to STAT3 mutations, and autosomal recessive HIES cause[primaryimmune.org] As a result of diffuse alveolar hemorrhage, respiratory symptoms such as cough attacks, hemoptysis, dyspnea, and recurrent and refractory iron-deficiency anemia (IDA) are[ncbi.nlm.nih.gov] Typically, an attack of asthma is characterized by dyspnea and a wheezing type of respiration.[medical-dictionary.thefreedictionary.com]

  • 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] He then developed acute abdominal pain and dyspnea, dying in a few hours due to sudden cardiac arrest.[ncbi.nlm.nih.gov]

  • Hypertrophic Cardiomyopathy

    Turk J Pediatr 2018; 60: 315-318.[ncbi.nlm.nih.gov] This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM).[ncbi.nlm.nih.gov] AHCM can occur with varied presentations such as chest pain, palpitations, dyspnea, syncope, atrial fibrillation, myocardial infarction, embolic events, ventricular fibrillation[ncbi.nlm.nih.gov]

Similar symptoms