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1,407 Possible Causes for Ascites, Autosomal Recessive

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[ncbi.nlm.nih.gov] […] accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and liver failure (ascites[emedicine.com] 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]

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[jmg.bmj.com] Runyon, Management of adult patients with ascites due to cirrhosis, Hepatology, 39, 3, (841), (2004). Grzegorz Nowak, Ulf G.[doi.org] 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]

  • 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,[ncbi.nlm.nih.gov] A rare cause of ascites: Familial Mediterranean fever.[ncbi.nlm.nih.gov] […] usually autosomal recessive inherited inflammatory disorder caused by mutations in the mefv gene.[icd9data.com]

  • Glycogen Storage Disease Type 4

    recessive manner, in which two copies of the defective gene must be inherited for an individual to develop the disease Autosomal recessive: Autosomal recessive conditions[dovemed.com] However, ascitic granulocyte counts were normal and cultures of ascitic fluid were negative.[adc.bmj.com] Carriers typically do not have signs or symptoms of an autosomal recessive condition.[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[ncbi.nlm.nih.gov] Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme a-N-acetylglucosaminidase.[ncbi.nlm.nih.gov] Abstract Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase[ncbi.nlm.nih.gov]

  • Wilson Disease

    Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2 ) transporting polypeptide[ncbi.nlm.nih.gov] For patients presenting with ascites, diuretics are the treatment of choice.[ncbi.nlm.nih.gov] Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain.[ncbi.nlm.nih.gov]

  • Gaucher Disease, Collodion Type

    Abstract Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common[ncbi.nlm.nih.gov] There was marked fetal hydrops with a pericardial effusion, a small amount of ascites, marked hepatosplenomegaly and an enlarged, dilated, flabby heart weighing 13.8 g (expected[doi.org] Gaucher disease is an autosomal recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal hydrolase, acid beta-glucosidase.[ncbi.nlm.nih.gov]

  • Tyrosinemia Type 1

    The autosomal recessive disorder, hereditary tyrosinemia type 1 (HT1), is caused by a defective fumarylacetoacetate hydrolase enzyme.[ncbi.nlm.nih.gov] In the acute type, manifestations of hepatic failure predominate (bleeding diathesis, hypoglycemia, ascites etc) with frequent sepsis and rapid deterioration.[orpha.net] Hereditary tyrosinemia type 1, an autosomal recessive disorder caused by deficiency of fumarylace-toacetate hydrolase (FAH), manifests in either an acute or a chronic form[ncbi.nlm.nih.gov]

  • Galactosemia

    Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.[en.wikipedia.org] […] the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites[ncbi.nlm.nih.gov] Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait[ncbi.nlm.nih.gov]

  • Indian Childhood Cirrhosis

    The pattern of transmission is consistent with an autosomal recessive mode of inheritance.[ncbi.nlm.nih.gov] Among children admitted to a further double blind trial who had ICC but who had not yet developed jaundice or ascites 10 treated with penicillamine and 10 treated with penicillamine[ncbi.nlm.nih.gov] By the time jaundice appears, the liver function is severely compromised and events like hepatocellular failure, ascites, bleeding due to esophageal varices leading to anemia[symptoma.com]

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