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2,041 Possible Causes for Autosomal Recessive, X-Ray Abnormal

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] […] hepatic transaminases, or hepatomegaly) Bone marrow examination not helpful; may or may not show increased hemosiderin content X-rays show joint changes which may be confused[faculty.washington.edu] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[ncbi.nlm.nih.gov] Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.[ghr.nlm.nih.gov] Dysostosis multiplex, a combination of skeletal abnormalities on X-ray imaging, is highly concerning for MPS 1.[medicalhomeportal.org]

  • Nephrocalcinosis

    Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1-2):1-6.[zora.uzh.ch] Presentation can range from incidental detection on abdominal X-rays or ultrasounds performed for another reason, to life-threatening.[patient.info] Abstract Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure.[ncbi.nlm.nih.gov]

  • Pulmonary Alveolar Microlithiasis

    Richiery-Costa A, Gollop TR, Otto PG (1983) Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities - type Waardenburg.[doi.org] A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung[ncbi.nlm.nih.gov] Despite extensive X-ray abnormalities, tests of pulmonary interstitium involvement and exercise tests revealed normal results.[ncbi.nlm.nih.gov]

  • Shwachman Syndrome

    The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed.[ncbi.nlm.nih.gov] Skeletal abnormalities such as thoracic malformations may be present. Many bone abnormalities are only apparent on X-ray. Bone abnormalities may vary over time.[cancertherapyadvisor.com] Genetic counseling Transmission is autosomal recessive. Recurrence risk is of 25%.[orpha.net]

  • Porphyria

    Most cases are probably inherited in an autosomal dominant pattern, however, it shows autosomal recessive inheritance in a small number of families.[genome.gov] Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[web.archive.org] It is inherited in an autosomal recessive pattern. An uncommon disorder that mainly affects the skin.[genome.gov]

  • Glycogen Storage Disease

    Glycogen storage disease type I is an autosomal recessive disorder caused by the defect in the glucose-6-phosphate enzyme system.[ncbi.nlm.nih.gov] Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound[ncbi.nlm.nih.gov] Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 1

    GSD type 2 is an autosomal recessive disorder with significant heterogeneity.[emedicine.medscape.com] Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound[ncbi.nlm.nih.gov] Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a neuromuscular, autosomal recessive metabolic lysosomal storage disease caused[snpedia.com]

  • 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] He was seen in the emergency department and chest x-rays showed no abnormalities.[ncbi.nlm.nih.gov] The diagnosis of chronic pancreatitis was based on standard criteria: abnormalities on histologic analysis of biopsy specimens, visible calculi on x-ray films, unequivocally[nejm.org]

  • Mucopolysaccharidosis 6

    Also called mucopolysaccharidosis VI. mucopolysaccharidosis type 6 An autosomal recessive lysosomal storage disease (OMIM:253200) characterised by intracellular accumulation[medical-dictionary.thefreedictionary.com] Individuals with Maroteaux-Lamy syndrome may be described as having ‘dysostosis multiplex’ a group of skeletal abnormalities that can be seen on x-ray examination.[rarediseases.org] Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.[ghr.nlm.nih.gov]

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