X-linked disease

Introduction

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

More general terms

• genetic disease
• chronic disease

More specific terms

• 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