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X-Linked Genetic Diseases

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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.

Also Known As:

Genetic Diseases, X-Linked; Genetic Diseases, X-Chromosome Linked; Disease, X-Linked Genetic; Diseases, X-Linked Genetic; Genetic Disease, X-Linked; Genetic Diseases, X Chromosome Linked; Genetic Diseases, X Linked; X Linked Genetic Diseases; X-Linked Genetic Disease

Networked: 20 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Inborn Genetic Diseases: 842
  - X-Linked Genetic Diseases: 20

Related Diseases

1.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
2.	Barth Syndrome
3.	Cardiomyopathies (Cardiomyopathy)
4.	Muscular Dystrophies (Muscular Dystrophy)
5.	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)

Experts

1.	Henríquez-Olguín, Carlos: 2 articles (07/2015 - 01/2013)
2.	Valladares, Denisse: 2 articles (07/2015 - 01/2013)
3.	Altamirano, Francisco: 2 articles (07/2015 - 01/2013)
4.	Jaimovich, Enrique: 2 articles (07/2015 - 01/2013)
5.	Allen, Paul D: 2 articles (07/2015 - 01/2013)
6.	Tremblay, Jacques P: 2 articles (01/2012 - 11/2010)
7.	López, José R: 1 article (07/2015)
8.	Pelosi, Laura: 1 article (01/2015)
9.	Coggi, Angela: 1 article (01/2015)
10.	Forcina, Laura: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked Genetic Diseases:

1.	DystrophinIBA 08/01/2007 - "The dystrophinopathies comprise a group of X-linked genetic diseases that feature dystrophin deficiency. " 07/01/2015 - "Duchenne muscular dystrophy is a fatal X-linked genetic disease, caused by mutations in the dystrophin gene, which cause functional loss of this protein. " 01/01/2015 - "Duchenne muscular dystrophy (DMD) is a X-linked genetic disease in which the absence of dystrophin leads to progressive lethal skeletal muscle degeneration. " 11/01/2013 - "Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. " 01/01/2013 - "Duchenne Muscular Dystrophy (DMD) is a recessive X-linked genetic disease, caused by mutations in the gene encoding dystrophin. "
2.	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 01/01/2004 - "Lesch-Nyhan syndrome (LSN, McKusick 300322) is an X-linked genetic disease due, in its typical form, to the complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) enzyme activity. " 11/01/2006 - "Lesch-Nyhan disease (LND), an X-linked genetic disease caused by complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), is characterized by hyperuricemia and psychiatric disturbance, mainly self-aggressiveness. "
3.	CD40 Ligand (CD40L)IBA 07/01/2008 - "The genetic disease X-linked hypergammaglobulinemia (HIGM1, XHIGM or XHIM) is caused by mutations in the CD40L gene. "
4.	Cytokine Receptors (Cytokine Receptor)IBA 08/21/1998 - "The common cytokine receptor gammac, shared by interleukin 2, 4, 7, 9, and 15 receptors, has a major role in lymphocyte proliferation and differentiation, leading, when mutated, to a genetic disease, X-linked severe combined immunodeficiency. "
5.	Interleukin-2 (IL2)IBA 08/21/1998 - "The common cytokine receptor gammac, shared by interleukin 2, 4, 7, 9, and 15 receptors, has a major role in lymphocyte proliferation and differentiation, leading, when mutated, to a genetic disease, X-linked severe combined immunodeficiency. "
6.	GlycosphingolipidsIBA 06/01/2008 - "Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. "
7.	Factor IX (PTC)FDA LinkGeneric 01/01/2014 - "Hemophilia B is an X-linked genetic disease caused by mutation of the gene for coagulation protein factor IX (FIX), with an incidence of approximately once every 30,000 male births in all populations and ethnic groups. "
8.	Cardiolipins (Cardiolipin)IBA 02/01/2004 - "In addition, reduction in the specific mitochondrial phospholipid cardiolipin is an underlying biochemical cause of Barth Syndrome, a rare and often fatal X-linked genetic disease that is associated with cardiomyopathy. "
9.	alpha-Galactosidase (Beano)IBA 06/01/2008 - "Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. "
10.	HyperglycerolemiaIBA 11/01/1987 - "Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 12/01/1989 - "This suggests that the biotinylated Y probe can be applied to the determination of X-linked genetic diseases and sex abnormality, forensic analysis, sex determination of sportsmen and women, heterosexual transplantation of bone marrow, etc. It could become a convenient means for genetic diagnosis."