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5,027 Possible Causes for 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] 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] Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion.[ncbi.nlm.nih.gov]

  • Lafora Disease

    It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure.[ncbi.nlm.nih.gov] Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration.[ncbi.nlm.nih.gov] Abstract Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative disorder that manifests with myoclonus epilepsy.[ncbi.nlm.nih.gov]

  • Unverricht-Lundborg Syndrome

    Genetics It carries an autosomal recessive inheritance and is caused due to a mutation in the cystatin B gene ( CSTB ).[radiopaedia.org] Unverricht disease, Unverricht syndrome (oon′fĕr-ikt″) [Heinrich Unverricht, Ger. physician, 1853–1912] A rare, fatal disease inherited as an autosomal recessive trait.[medical-dictionary.thefreedictionary.com] ORPHA:308 Synonym(s): PME type 1 Progressive myoclonic epilepsy type 1 Progressive myoclonus epilepsy type 1 ULD Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive[orpha.net]

  • Retinitis Pigmentosa

    The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.[ncbi.nlm.nih.gov] KEYWORDS: RP1; autosomal recessive retinitis pigmentosa; targeted NGS[ncbi.nlm.nih.gov] This study reports the ophthalmic and genetic findings of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by retinitis pigmentosa 1 (RP1) mutations[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] 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] EPP was therefore inherited as an autosomal recessive trait in the family. This study confirms the association between palmar keratoderma and autosomal recessive EPP.[ncbi.nlm.nih.gov]

  • Wolfram Syndrome

    Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome[ncbi.nlm.nih.gov] The Wolfram syndrome (WS) is an autosomal recessive disorder beginning in childhood that consists of four clinical features: diabetes insipidus, diabetes mellitus, optic atrophy[ncbi.nlm.nih.gov] This is a case of two siblings with the autosomal recessive Wolfram syndrome who both have documented atrioventricular nodal reentrant tachycardia (AVNRT).[ncbi.nlm.nih.gov]

  • Kostmann Syndrome

    Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells, yet the underlying[ncbi.nlm.nih.gov] Abstract Autosomal recessive severe congenital neutropenia (SCN) 1 constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells 2,[doi.org] The ailment that Kostmann described is autosomal recessive.[symptoma.com]

  • Kohlschütter-Tönz Syndrome

    ORPHA:1946 Synonym(s): Epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschutter-Tonz syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy[orpha.net] This report confirms the autosomal recessive inheritance of the disorder.[ncbi.nlm.nih.gov] recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.[orpha.net]

  • Winchester Syndrome

    Winchester syndrome is a genetic disorder inherited in an autosomal recessive pattern.[symptoma.com] Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis.[ncbi.nlm.nih.gov] Winchester syndrome was one of the first recognized autosomal-recessive, multicentric forms of the disorder.[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 autosomal recessive distal spinal muscular atrophy type 1 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1[wikidata.org] ORPHA:98920 Synonym(s): Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive spinal muscular atrophy with respiratory distress Diaphragmatic spinal[orpha.net] Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic[ncbi.nlm.nih.gov]

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