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1,912 Possible Causes for Autosomal Recessive, Hepatosplenomegaly

  • Hemochromatosis

    Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism resulting in toxic accumulation of iron in vital organs.[] Skin hyperpigmentation (like suntan) on both exposed and nonexposed areas; slate gray in late stages (75% of patients with hereditary hemochromatosis) Other manifestations Hepatosplenomegaly[] Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life.[]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[] In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis[] Mucopolysaccharidosis VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, cardiovascular abnormalities[]

  • Congenital Hepatic Fibrosis

    recessive polycystic kidney disease (ARPKD) is a developmental disorder that mainly affects the kidneys and the biliary tract.[] Congenital hepatic fibrosis (CHF) is probably the most common cause of non-icteric hepatosplenomegaly and is encountered mainly in children and young adults.[] OBJECTIVES: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease[]

  • Gaucher Disease

    recessive.[] We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia.[] [] Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy.[]

  • Niemann-Pick Disease Type C

    Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin[] Hepatosplenomegaly and progressive neurological symptoms are the main clinical features.[] ORPHA:646 Synonym(s): - Prevalence: 1-9 / 100 000 Inheritance: Autosomal recessive Age of onset: All ages ICD-10: E75.2 OMIM: 257220 607625 UMLS: C0220756 MeSH: D052556 GARD[]

  • Wolman Disease

    Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations[] Infant leukemia most commonly present with pallor and hepatosplenomegaly.[] Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester.[]

  • Niemann-Pick Disease

    NPD is a sphingolipidosis characterized by a deficiency in sphingomyelinase caused by an autosomal recessive gene.[] Niemann-Pick disease is a rare inherited autosomal recessive disorder, currently classified into six subtypes and characterized by the intracellular accumulation of sphingomyelin[] These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected.[]

  • Niemann-Pick Disease Type B

    Niemann-pick disease is a group of autosomal recessive disorder of lipid storage with progressive accumulation of sphingomyelin and other lipids in the lysosomes of various[] These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected.[] The parents of a child with an autosomal recessive disorder do not have the disease clinically in most cases though they carry one copy of the altered gene.[]

  • Cholesterol Ester Storage Disease

    The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.[] Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications.[] A 5-year and 4-month old Thai female with hepatosplenomegaly and hypercholesterolemia was diagnosed to have this disease by light and electron microscopic studies of the liver[]

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[] EPP is inherited in an autosomal recessive manner.[] 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[]

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