{"id":6493,"date":"2023-08-27T09:44:54","date_gmt":"2023-08-27T09:44:54","guid":{"rendered":"https:\/\/neuropediaclinic.com\/?p=6493"},"modified":"2023-08-27T09:46:03","modified_gmt":"2023-08-27T09:46:03","slug":"enfermedades-ligadas-al-x-de-especial-relevancia-neurogenetica","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/enfermedades-ligadas-al-x-de-especial-relevancia-neurogenetica\/","title":{"rendered":"Disease linked to the X of special relevance neurogenetics."},"content":{"rendered":"<p>Recessive X-linked inheritance pattern:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>The frequency of sick individuals is much higher among men than among women.<\/li>\n\n\n\n<li>Men pass the diseased allele to all their daughters, but all daughters will be healthy.<\/li>\n\n\n\n<li>A heterozygous carrier will transmit the allele to 50% of her sons (who will be sick) as well as 50% of her daughters (who will be healthy carriers).<\/li>\n\n\n\n<li>There is no transmission of the disease from parents to children.<\/li>\n<\/ul>\n\n\n\n<p>Dominant X-linked inheritance pattern:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Both men and women transmit the disease, and it is expressed in both sexes.<\/li>\n\n\n\n<li>The disease is twice as common in women as in men.<\/li>\n\n\n\n<li>An affected man transmits the disease to all his daughters, but to none of his sons.<\/li>\n\n\n\n<li>An affected woman transmits the disease to half of her sons and daughters.<\/li>\n\n\n\n<li>Women usually have a milder form of the disease than men.<\/li>\n<\/ul>\n\n\n\n<p>Hollandric or Y-linked inheritance.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Only men express and transmit the genes linked to the y chromosome, and they pass them on to all their male children.<\/li>\n<\/ul>\n\n\n\n<p>Pseudoautosomal inheritance or \u201cpartial sex linkage\u201d.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Women transmit the genes of the X\/Y homologous segment in the same way to their children of both sexes, but men transmit them predominantly to children of the same sex. For example, this inheritance model occurs in X-linked ichthyosis due to steroid sulfatase deficiency.<\/li>\n<\/ul>\n\n\n\n<p>Since X-linked diseases are more limited in number than autosomal diseases, it is a better strategy to know and learn about them. An extensive list can be consulted at <a href=\"https:\/\/www.omim.org\/search?index=entry&amp;search=chromosome%3AX&amp;start=1&amp;limit=10&amp;retrieve=geneMap&amp;genemap_exists=true\">OMIM<\/a>. <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"490\" height=\"540\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/08\/imagen-10.png\" alt=\"\" class=\"wp-image-6494\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/08\/imagen-10.png 490w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/08\/imagen-10-272x300.png 272w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/08\/imagen-10-11x12.png 11w\" sizes=\"(max-width: 490px) 100vw, 490px\" \/><\/figure>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-a873797e\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Metabolic diseases are linked to X. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-table\"><table><tbody><tr><td>Disease<\/td><td>OMIM<\/td><td>gene<\/td><td>Inheritance<\/td><td>Metabolic diseases group<\/td><\/tr><tr><td>Pyruvate dehydrogenase 1 deficiency<\/td><td>312170<\/td><td>PDHA1<\/td><td>XLD<\/td><td>Energy metabolism<\/td><\/tr><tr><td>Glucose-6-phosphate dehydrogenase deficiency<\/td><td>305900<\/td><td>G6PD<\/td><td>XLD<\/td><td>Glycolysis<\/td><\/tr><tr><td>Lesch-Nyhan disease<\/td><td>300322<\/td><td>HPRT1<\/td><td>XLR<\/td><td>Purines and pyrimidines<\/td><\/tr><tr><td>OTC deficit<\/td><td>311250<\/td><td>OTC<\/td><td>XL(D\/R)<\/td><td>urea cycle<\/td><\/tr><tr><td>Arts syndrome (phosphoribosyl-pyrophosphate synthase deficiency)<\/td><td>301835<\/td><td>PRPS1<\/td><td>XLR<\/td><td>Purines and pyrimidines<\/td><\/tr><tr><td>Epsilon-N-trimethyllysine hydroxylase deficiency<\/td><td>300777<\/td><td>TMLHE<\/td><td>XLR<\/td><td>Fatty acids and ketones<\/td><\/tr><tr><td>CHILD syndrome<\/td><td>308050<\/td><td>NSDHL<\/td><td>XLD<\/td><td>Sterols<\/td><\/tr><tr><td>Hunter's disease<\/td><td>309900<\/td><td>IDS<\/td><td>XLR<\/td><td>Lysosomal<\/td><\/tr><tr><td>Fabry disease<\/td><td>301500<\/td><td>GLA<\/td><td>XL(D\/R)<\/td><td>Lysosomal<\/td><\/tr><tr><td>Danon disease<\/td><td>300257<\/td><td>LAMP2<\/td><td>XLD<\/td><td>Lysosomal<\/td><\/tr><tr><td>Chondrodysplasia punctata (Conradi-H\u00fcnermann)<\/td><td>302950<\/td><td>ARSE<\/td><td>XLR<\/td><td>Lysosomal<\/td><\/tr><tr><td>X-linked adrenoleukodystrophy<\/td><td>300100<\/td><td>ABCD1<\/td><td>XLR<\/td><td>Peroxisomal<\/td><\/tr><tr><td>Menkes disease<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Copper metabolism<\/td><\/tr><tr><td>Occipital horns syndrome<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Copper metabolism<\/td><\/tr><tr><td>PIGA-CDG<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Protein glycosylation disorder<\/td><\/tr><tr><td>SLC35A2-CDG<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Protein glycosylation disorder<\/td><\/tr><\/tbody><\/table><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>X-linked diseases of special neurological relevance. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-table\"><table><tbody><tr><td>&nbsp;<\/td><td>OMIM<\/td><td>gene<\/td><td>Inheritance<\/td><td>Disease group<\/td><\/tr><tr><td>Lowe's disease (oculocerebrorenal syndrome)<\/td><td>309000<\/td><td>OCRL<\/td><td>XLR<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Allan-Herndon-Dudley syndrome (MCT8 deficiency, brain thyroid hormone transporter)<\/td><td>300523<\/td><td>SLC16A2<\/td><td>XL(D\/R)<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Coffin-Lowry syndrome<\/td><td>303600<\/td><td>RPS6KA3<\/td><td>XLD<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Aarskog-Scott syndrome (Faciogenital syndrome, x-linked syndromic intellectual disability type 16)<\/td><td>305400<\/td><td>FGD1<\/td><td>XLD<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Kabuki syndrome type 2 (Kabuki makeup syndrome)<\/td><td>300867<\/td><td>KDM6A<\/td><td>XLD<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Fragile X syndrome (FRAXA)<\/td><td>300624<\/td><td>FMR1<\/td><td>XLD<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Fragile X syndrome (FRAXE)<\/td><td>309548<\/td><td>AFF2<\/td><td>XLR<\/td><td>Syndromic intellectual disability<\/td><\/tr><tr><td>Rett syndrome<\/td><td>312750<\/td><td>MECP2<\/td><td>XLD<\/td><td>Autism spectrum disorder<\/td><\/tr><tr><td>Duchenne\/Becker disease<\/td><td>310200<\/td><td>DMD<\/td><td>XLD<\/td><td>Neuromuscular<\/td><\/tr><tr><td>Kennedy disease (X-linked spinobulbar muscular atrophy; SMAX1)<\/td><td>313200<\/td><td>AR<\/td><td>XLR<\/td><td>Neuromuscular<\/td><\/tr><tr><td>X-linked spinal muscular atrophy (SMAX2)<\/td><td>301830<\/td><td>UBA2<\/td><td>XLR<\/td><td>Neuromuscular<\/td><\/tr><tr><td>X-linked distal muscular atrophy (SMAX3)<\/td><td>300489<\/td><td>ATP7A<\/td><td>XLR<\/td><td>Neuromuscular<\/td><\/tr><tr><td>CMTX<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neuromuscular<\/td><\/tr><tr><td>X-linked myotubular myopathy<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neuromuscular<\/td><\/tr><tr><td>centronuclear myopathy<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neuromuscular<\/td><\/tr><tr><td>X-linked ichthyosis<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neurocutaneous<\/td><\/tr><tr><td>Barth syndrome<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><\/tr><tr><td>X-linked oculocutaneous albinism<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neurocutaneous<\/td><\/tr><tr><td>Incontinentia pigmenti<\/td><td>&nbsp;<\/td><td>NEMO<\/td><td>&nbsp;<\/td><td>Neurocutaneous<\/td><\/tr><tr><td>Goltz syndrome<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>Neurocutaneous<\/td><\/tr><tr><td>Aicardi syndrome<\/td><td>304050<\/td><td>&nbsp;<\/td><td>&nbsp;<\/td><td>brain malformation<\/td><\/tr><\/tbody><\/table><\/figure>\n<\/div><\/details>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Recessive X-linked inheritance pattern: Dominant X-linked inheritance pattern: Hollandric or Y-linked inheritance. Pseudoautosomal inheritance or \u201cpartial sex linkage.\u201d Since X-linked diseases are more limited in number than autosomal diseases, it is a better strategy to know and learn about them. You can consult an extensive list\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/enfermedades-ligadas-al-x-de-especial-relevancia-neurogenetica\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \"X-linked diseases of special neurogenetic relevance.\"<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":6495,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-6493","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/6493","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=6493"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/6493\/revisions"}],"predecessor-version":[{"id":6497,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/6493\/revisions\/6497"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/6495"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=6493"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=6493"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=6493"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}