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145 Possible Causes for Autosomal Recessive Inheritance Reported in One Case

  • Gitelman Syndrome

    Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings.[ncbi.nlm.nih.gov]

  • Amyotrophic Lateral Sclerosis Type 1

    Most cases of SOD1-related familial ALS follow autosomal dominant inheritance; rare cases of autosomal recessive inheritance have been reported.[flybase.org] There is one high-scoring fly ortholog of SOD1, Sod1, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis[flybase.org]

  • Stiff Skin Syndrome

    Infantile myofibromatosis: report of two cases in one family. Br J Dermatol 1987;117:255–9. 8 Narchi H.[plasticsurgerykey.com] Four half-siblings with infantile myofibromatosis: a case for autosomal recessive inheritance. Clin Genet 2001;59:134–5. 9 Fukasawa Y, Ishikura H, Takada A et al.[plasticsurgerykey.com]

  • Hallervorden-Spatz Syndrome

    A heredo-familial syndrome, inherited as an autosomal recessive trait; some unrelated cases reported The original description concerned a sibship of 12 in which 5 sisters[whonamedit.com] Aetiology unknown; considered one form of iron storage disease.[whonamedit.com]

  • Emery-Dreifuss Muscular Dystrophy

    Only one case of autosomal recessive inheritance of EDMD has been reported.[mda.org.au] As of early 2001 only one case of autosomal recessive inheritance of EDMD has been reported.[encyclopedia.com] Most commonly EDMD is inherited in an X-linked recessive manner. Autosomal dominant inheritance of EDMD is also well characterized.[mda.org.au]

  • Gaucher Disease

    Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele[ncbi.nlm.nih.gov] Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline[ncbi.nlm.nih.gov]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    Only one case of autosomal recessive inheritance of EDMD has been reported.[mda.org.au] Most commonly EDMD is inherited in an X-linked recessive manner. Autosomal dominant inheritance of EDMD is also well characterized.[mda.org.au]

  • GLUT1 Deficiency Syndrome

    The disease is primarily inherited in an autosomal dominant manner, although rare cases of autosomal recessive transmission have been reported.[invitae.com] Inheritance The vast majority of identified GLUT1DS patients have one de novo pathogenic variant in the SLC2A1 gene.[invitae.com]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    Only one case of autosomal recessive inheritance of EDMD has been reported.[mda.org.au] Most commonly EDMD is inherited in an X-linked recessive manner. Autosomal dominant inheritance of EDMD is also well characterized.[mda.org.au]

  • Combined Oxidative Phosphorylation Defect Type 8

    Of note, there is one reported case of a patient with an autosomal dominant CPT-2 mutation [ 96 ] ( Table 2 ).[bioscirep.org] FAO DISEASE FAO disorders present as a variety of clinical phenotypes and almost always demonstrate an autosomal recessive inheritance pattern.[bioscirep.org]

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