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1,353 Possible Causes for Autosomal Recessive, Pruritus

  • Erythropoietic Protoporphyria

    […] effect from the mutant FECH allele. 25 The prevalence of autosomal recessive EPP has not been established.[jmg.bmj.com] EPP usually presents in early childhood or infancy, with painful burning and pruritus within minutes of light exposure.[ncbi.nlm.nih.gov] A few minutes of exposure to the sun induces pruritus, erythema, swelling and pain. Longer periods of exposure may induce second degree burns.[en.wikipedia.org]

  • Progressive Familial Intrahepatic Cholestasis

    METHODS: Because of common ancestry, and an autosomal recessive mode of inheritance, it was hypothesized that all affected and no unaffected individuals would be homozygous[ncbi.nlm.nih.gov] Biliary diversion offers a potential option for intractable pruritus in children with chronic cholestatic disorders.[ncbi.nlm.nih.gov] Severe pruritus and high serum bile acid concentrations are the most important diagnostic criteria of this autosomal recessive inherited disease.[ncbi.nlm.nih.gov]

  • Hereditary Spherocytosis

    […] spherocytosis on repeated blood films, Coombs-negative hemolytic jaundice and normal MCHC and MCV measurements, where SDS-PAGE revealed alpha-spectrin deficiency, a rare autosomal-recessive[ncbi.nlm.nih.gov] A 18 year old Turkish patient with hereditary spherocytosis was admitted to hospital with pruritus and severe jaundice.[ncbi.nlm.nih.gov] This condition can also be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[ghr.nlm.nih.gov]

  • Donohue Syndrome

    Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe[ncbi.nlm.nih.gov] Donohue syndrome is a rare autosomal recessive condition caused by severe loss-of-function mutations in the insulin receptor (INSR) gene.[ncbi.nlm.nih.gov] Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births.[ncbi.nlm.nih.gov]

  • Epidermolysis Bullosa Pruriginosa

    DEB can be inherited by autosomal dominant or autosomal recessive pattern, based on the mutation mode.[globethesis.com] Pruritus is an important factor in the development of epidermolysis bullosa pruriginosa and is the focus of management.[ncbi.nlm.nih.gov] […] dominant inheritance ; Autosomal recessive inheritance ; Fragile skin ; Milia ; Nail dysplasia ; Nail dystrophy Associated Genes COL7A1 (Withdrawn symbols: EBD1, EBDCT, EBR1[mousephenotype.org]

  • Xeroderma

    This results from a single-gene autosomal recessive disorder. xeroderma a mild form of ichthyosis; excessive dryness of the skin.[medical-dictionary.thefreedictionary.com] Add to cart 41% Add to wishlist URIAGE Pruriced Creme Apaisante, 100ml Available 14,70 8,71 Face & Body Lotion for treating pruritus of atopic dermatitis, dermatititda by[ofarmakopoiosmou.gr] Abstract Xeroderma pigmentosa is a rare inherited autosomal recessive disease with the inability to repair DNA damage caused by UV light.[ncbi.nlm.nih.gov]

  • Sjögren-Larsson Syndrome

    Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth. Sjögren–Larsson syndrome is a rare autosomal, recessive, neurocutaneous disease.[en.wikipedia.org] Title: Zileuton for Pruritus in Sjogren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial Author(s): Fuijkschot, J. ; Seyger, M.M.B. ; Bastiaans[repository.ubn.ru.nl] The findings reported here, point to a crucial role for leukotriene B4 in the pathogenesis of pruritus.[ncbi.nlm.nih.gov]

  • Intrahepatic Cholestasis

    AGC2 deficiency is an autosomal recessive disorder with two age related phenotypes: neonatal intrahepatic cholestasis (NICCD, OMIM#605814) and adult-onset type II citrullinemia[ncbi.nlm.nih.gov] We present two cases of pregnancy after IVF treatment diagnosed with ICP following the development of OHSS, deteriorating liver function tests and severe pruritus.[ncbi.nlm.nih.gov] Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by the dysfunction of citrin, an aspartate/glutamate carrier[ncbi.nlm.nih.gov]

  • Pretibial Dystrophic Epidermolysis Bullosa

    Genetic counseling The disease follows an autosomal dominant (pretibial DDEB) or an autosomal recessive (pretibial RDEB) pattern of inheritance.[orpha.net] The intense pruritus contributes to the formation of lesions.[ncbi.nlm.nih.gov] Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner.[malacards.org]

  • Alpha-1 Antitrypsin Deficiency

    ORPHA:60 Synonym(s): - Prevalence: 1-5 / 10 000 Inheritance: Autosomal recessive Age of onset: All ages ICD-10: E88.0 OMIM: 613490 UMLS: C0221757 C3501835 MeSH: C531610 D019896[orpha.net] […] children, the signs of alpha-1 antitrypsin deficiency do not become apparent until early childhood or adolescence when they may develop hepatitis, enlarged spleen, ascites, pruritus[en.wikibooks.org] As for all autosomal recessive conditions liver donation from anonymous cadaveric sources is preferred to living related parental donors, due to their presumed heterozygous[ncbi.nlm.nih.gov]

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