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483 Possible Causes for Autosomal Recessive, Heat Intolerance

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[jmg.bmj.com] EPP is inherited in an autosomal recessive manner.[ncbi.nlm.nih.gov] Register Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental[academic.oup.com]

  • Autonomic Neuropathy

    Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves[ncbi.nlm.nih.gov] The symptoms depend upon what organs are affected and may include abdominal swelling, heat intolerance, nausea, vomiting, impotence, diarrhea , constipation , dizziness with[medicinenet.com] recessive sensory neuropathy, and emphasize the clinical heterogeneity of HSAN.[ncbi.nlm.nih.gov]

  • 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.[wikidata.org] High-flow, heated, humidified air via nasal cannula treats CPAP-intolerant children with obstructive sleep apnea. J Clin Sleep Med 2017 ;13: 981 – 989.[doi.org] Abstract Cystic fibrosis is an autosomal recessive disease with a prognosis determined by the extent of pulmonary lesions.[ncbi.nlm.nih.gov]

  • Peripheral Neuropathy

    Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected[ncbi.nlm.nih.gov] intolerance Excessive sweating or not being able to sweat Bowel, bladder or digestive problems Changes in blood pressure, causing dizziness or lightheadedness Peripheral[mayoclinic.org] The patient was found to have autosomal recessively inherited double heterozygous LAMA2 mutations.[ncbi.nlm.nih.gov]

  • Lamellar Ichthyosis

    242300 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B 601277 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE[ncbi.nlm.nih.gov] We report a 42-year-old man with generalized thick brownish scales and severe thermodysregulation leading to heat intolerance.[ncbi.nlm.nih.gov] […] days to weeks of life Child/Adult Generalized large, dark, platelike scale increased in flexures; erythroderma; ectropion; palmoplantar keratoderma; decreased sweating with heat[cram.com]

  • Obesity

    There are many patients from consanguineous families in whom severe obesity segregates in an autosomal recessive manner and in whom mutations in the known obesity genes have[doi.org] The disorder is autosomal recessive and manifested by severe obesity and hyperphagia accompanied by metabolic, neuroendocrine, and immune dysfunction. [53] It is exquisitely[emedicine.medscape.com]

  • Ectodermal Dysplasia

    Abstract We report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations[oadoi.org] intolerance.[slideshare.net] intolerance and may cause recurrent, potentially life-threatening hyperthermic episodes.[orpha.net]

  • Anxiety Disorder

    Ornithine transcarbamylase (OTC) deficiency is the most common as it is an X-linked recessive condition, while the other deficiencies have an autosomal recessive pattern of[ncbi.nlm.nih.gov] Cerebrotendinous xanthomatosis (CTX) The CTX is an autosomal recessive pathology altering the synthesis of bile acid.[ncbi.nlm.nih.gov] Wilson's disease Wilson's disease is a rare genetic disease (prevalence 1/30,000) with autosomal recessive inheritance [ 18 ].[dx.doi.org]

  • Congestive Heart Failure

    Mulibrey nanism (MUL) is a rare autosomal recessive disorder with severe primordial growth retardation and multiorgan involvement, caused by mutations in TRIM37.[ncbi.nlm.nih.gov] recessive disorder, is the most common hereditary disease of Northern Europeans, with a prevalence of approximately 5 per 1000.[doi.org] […] common genetic disorders such as primary hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal[doi.org]

  • Heart Failure

    recessive disorder, is the most common hereditary disease of Northern Europeans, with a prevalence of approximately 5 per 1000.[doi.org] […] common genetic disorders such as primary hemochromatosis or with lifetime transfusion requirements as seen in beta-thalassemia major. 176 Hereditary hemochromatosis, an autosomal[doi.org]

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