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Genetic Diseases, X-Linked (X-Linked Genetic Diseases)

Genetic diseases that are linked to gene mutations on the x chromosome in humans (x chromosome, HUMAN) or the x chromosome in other species. Included here are animal models of human X-linked diseases.


Images

The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201

Focal dermal hypoplasia

Kaposi's sarcoma is a part of 'AIDS-related complex'

Focal dermal hypoplasia

Captopril, the prototypical ACE inhibitor

Emery–Dreifuss muscular dystrophy

Emery–Dreifuss muscular dystrophy

Emery–Dreifuss muscular dystrophy

LNS is inherited in an X-linked recessive fashion. LNS is due to mutations in the 'HPRT1' gene,[http://ghr.nlm.nih.gov/condition=leschnyhansyndrome Lesch-Nyhan syndrome.] Genetics Home Reference. Retrieved on 2007-05-24.[http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.298 Lesch-Nyhan syndrome.] NCBI Genes and disease. Retrieved on 2007-04-12 so named because it codes for the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT or HGPRT, ). This enzyme is involved in the biochemical pathways the body uses to produce purines, one of the components of DNA and RNA. Defects of this enzyme lead to increased production of uric acid. Since the 'HPRT' gene is located on the X chromosome, LNS is an X-linked inherited disease.

Emery–Dreifuss muscular dystrophy

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Wikipedia

Oculocerebrorenal syndrome - WikipediaPartial androgen insensitivity syndrome - WikipediaMild androgen insensitivity syndrome - Wikipedia

More information

Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors

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