Genetic Diseases, X-Linked
Research News and Information

Sunday, November 22, 2009

Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.

29 Nov 2009 X-linked lymphoproliferative disease (XLP) is an immunodeficiency caused by defects in the adaptor molecule SAP. The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, ... Read more...

X-linked thrombophilia with a mutant factor IX (factor IX Padua).

20 Oct 2009 We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L). The level of the mutant factor IX protein in plasma was normal, but the clotting ... Read more...

X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.

29 Sep 2009 X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-lXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the alpha-subunit of ... Read more...

Latest indexed articles for 'Genetic Diseases, X-Linked'

These are the very latest articles for this heading:

• Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. 29 Nov 2009
• X-linked thrombophilia with a mutant factor IX (factor IX Padua). 20 Oct 2009
• X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males. 29 Sep 2009
• X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. 20 Sep 2009
• Sustained virologic response following HCV eradication in two brothers with X-linked agammaglobulinaemia. 19 Aug 2009
• Consequences of mutations within the C terminus of the FHL1 gene. 16 Aug 2009
• Alport syndrome. Molecular genetic aspects. 30 Jul 2009
• GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 30 Jul 2009
• Prenatal identification of a novel R937P L1CAM missense mutation. 30 Jul 2009
• The gene of Bloom's syndrome: an autosomal recessive disorder with male dominance. 30 Jul 2009
• Epigenetic mechanisms of regulation of Foxp3 expression. 27 Jul 2009
• Muscular dystrophy in Cavalier King Charles spaniels. 9 Jul 2009
• Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. 5 Jul 2009
• The monogenic primary dystonias. Jul 2009
• Evidence for X-chromosomal schizophrenia associated with microRNA alterations. 29 Jun 2009
• Pleiotropic genetic syndromes with developmental abnormalities associated with obesity. 29 Jun 2009
• Mining the x-chromosome for disease genes by deep resequencing. 29 Jun 2009
• Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. 29 Jun 2009
• Ataxias with autosomal, X-chromosomal or maternal inheritance. 29 Jun 2009
• X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene. 29 Jun 2009

See a longer list of these articles.

Technical information about 'Genetic Diseases, X-Linked'

Definition: 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.

Descriptor UI: D040181

Alternative terms: Genetic Diseases, X-Linked; Disease, X-Linked Genetic; Diseases, X-Linked Genetic; Genetic Disease, X-Linked; Genetic Diseases, X Linked; X-Linked Genetic Disease; X-Linked Genetic Diseases; X Linked Genetic Diseases; Genetic Diseases, X-Chromosome Linked; Genetic Diseases, X Chromosome Linked;

Related Mesh Headings: Sex Chromosome Aberrations; Sex Chromosome Disorders; Chromosomes, Human, X; Genes, X-Linked;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C16.320.322;

History Note: 2003