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22 Possible Causes for Allelic Disorder to Autosomal Dominant Form

  • Hereditary Late-Onset Parkinson Disease

    Why is only one mutation sufficient to cause an autosomal-dominant disorder, whereas in recessive forms both alleles have to be altered?[ncbi.nlm.nih.gov] All of the currently known monogenic PD forms are autosomal (dominant or recessive), which means that they are linked with regions on autosomes (chromosomes other than sex[ncbi.nlm.nih.gov] In autosomal-dominant disorders, one mutated allele of the gene is enough to cause the disease.[ncbi.nlm.nih.gov]

  • Long QT Syndrome

    AS is an autosomal dominant disorder, and affected individuals possess one normal and one mutant KCNJ2 allele.[ncbi.nlm.nih.gov] To assess the ability of mutant Kir2.1 subunits to form functional heteromultimeric channels with WT subunits, we coinjected oocytes with mutant and WT KCNJ2 cRNA (0.8 ng[ncbi.nlm.nih.gov]

  • Ventricular Arrhythmia

    AS is an autosomal dominant disorder, and affected individuals possess one normal and one mutant KCNJ2 allele.[dx.doi.org] To assess the ability of mutant Kir2.1 subunits to form functional heteromultimeric channels with WT subunits, we coinjected oocytes with mutant and WT KCNJ2 cRNA (0.8 ng[dx.doi.org]

  • Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Type 10B

    Home Genes EDAR full name ectodysplasin A receptor synonyms DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, EDAR, ENSG00000135960 HGNC HGNC:2895 Entrez Gene Gene:10913 ENSEMBL ENSG00000135960 location chr: 2 start: 109510927 stop: 109605828 strand: - OMIM OMIM:604095 : EDAR (Autosomal dominant[…][warehouse.cmh.edu]

  • Pallister-Hall Syndrome

    The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome.[ojrd.biomedcentral.com] GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.[ojrd.biomedcentral.com]

  • Paramyotonia Congenita

    This is a disorder allelic to hyperkalemic periodic paralysis. There is a variant autosomal dominant form [MIM*168350] in which cold is not a provoking factor.[medigoo.com] dominant inheritance caused by mutation in the sodium channel gene (SCN4A) on chromosome 17q.[medigoo.com] Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles).[medigoo.com]

  • Aarskog Syndrome

    The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome.[ojrd.biomedcentral.com] GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.[ojrd.biomedcentral.com]

  • Hereditary Spastic Paraplegia

    We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP).[ncbi.nlm.nih.gov] Our study demonstrates further allelic heterogeneity of SPG6. (c) 2006 Movement Disorder Society.[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    " genotype - 8 autosomal dominant and recessive forms exist - 1 in 30,000 to 1 in 60,000 Osteogenesis Imperfecta Etiology - Inherited and caused by defective collagen formation[quizlet.com] - Some Conditions Become Evident Later in Life: Allele for disorder may have been passed on to next generation before diagnosis of disease in parent; Termed "delayed lethal[quizlet.com] […] years Autosomal Dominant Disorders - Inheritance of one allele causes disorder, only one parent needs to carry allele - No Carriers: Unaffected persons do not transmit the disorder[quizlet.com]

  • Weissenbacher-Zweymuller Syndrome

    WZS is an autosomal dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED.[mybiosource.com] Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13) [MIM:601868]. DFNA13 is a form of sensorineural hearing loss.[abcam.com] Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13). DFNA13 is a form of sensorineural hearing loss.[mybiosource.com]

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