X-linked disease

Genetic disease resulting from chromosomal aberration on the X-chromosome.

Specific

Aarskog-Scott syndrome; faciogenital dysplasia; faciodigitogenital syndrome Barth syndrome Becker muscular dystrophy Bruton type agammaglobulinemia choroideremia; progressive choroidal atrophy; progressive tapetochoroidal dystrophy chronic granulomatous disease Conradi-Hunermann syndrome (chondrodysplasia punctata-2, Happle syndrome) craniofrontonasal syndrome (craniofrontonasal dysplasia) double cortex/X-linked lissencephaly syndrome; X-linked subcortical laminar heterotopia/lissencephaly syndrome; subcortical band heterotopia X-linked Duchenne muscular dystrophy (pseudohypertrophic) Fabry's disease; angiokeratoma corporis diffusum fragile X syndrome glucose-6-phosphate dehydrogenase [G6PD] deficiency; chronic non-spherocytic hemolytic anemia (CNSHA) hemophilia A; factor VIII deficiency hemophilia B; factor IX deficiency ; Christmas disease Lesch-Nyhan syndrome; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency McLeod syndrome; McLeod neuroacanthocytosis syndrome monocarboxylate transporter 8 deficiency (MCT8 deficiency) ocular albinism ovarian dysgenesis 2; X-linked hypergonadotropic ovarian dysgenesis; hypergonadotropic ovarian failure due to ovarian dysgenesis partial androgen insensitivity (Reifenstein syndrome) Pelizaeus-Merzbacher disease reducing body myopathy sideroblastic anemia with spinocerebellar ataxia Simpson-Golabi-Behmel syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome VEXAS syndrome Wiskott-Aldrich syndrome (eczema-thrombocytopenia-immunodeficiency syndrome) X-linked adrenal hypoplasia congenital X-linked adrenoleukodystrophy; Siemerling-Creutzfeldt disease; Bronze-Schilders disease; melanodermic leukodystrophy X-linked agammaglobulinemia X-linked bulbospinal muscular atrophy (Kennedy's disease) X-linked color blindness X-linked creatine deficiency syndrome X-linked dyserythropoietic anemia & thrombocytopenia X-linked heterotaxy X-linked lymphoproliferative syndrome (Duncan disease) X-linked mental retardation; X-linked intellectual disability (XLID) X-linked myopathy with postural muscle atrophy (XMPMA) X-linked severe congenital neutropenia X-linked sideroblastic anemia X-linked thrombocytopenia X-linked thrombocytopenia with beta-thalassemia; thrombocytopenia, platelet dysfunction, hemolysis, & imbalanced globin synthesis X-linked torsion dystonia

General

chronic disease genetic disease