Health topics
Genetic disorders
Explore inherited and chromosomal conditions represented in our medical library.
Overview
About genetic disorders
Genetic disorders arise from changes in genes or chromosomes, but inheritance patterns and clinical effects vary. Some are inherited within families, while others can occur through new genetic changes. The articles below include neurologic, blood, metabolic and multisystem conditions.
Chromosomal and metabolic conditions
3 references
22q11.2 deletion syndrome (DiGeorge syndrome)
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Gaucher disease
Condition→Gaucher diseaseInherited GBA1 lysosomal storage disease with splenic, hepatic, blood, skeletal and sometimes neurologic involvement.
Acrodermatitis enteropathica
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Inherited blood and iron conditions
3 references
Sickle cell disease
Condition→Sickle cell diseaseSickle cell disease genotypes, pain crises, anaemia, infection and stroke risk, diagnosis and disease-modifying care.
Von Willebrand disease
Condition→Von Willebrand diseaseInherited VWF bleeding disorder causing mucosal, menstrual and procedural bleeding with type-specific testing and hemostatic treatment.
Hemochromatosis
Explore symptoms, diagnosis, care and cited clinical information in the full condition article.
Inherited neurologic conditions
1 reference
For diagnosis, treatment information and clinical sources, see the individual condition references. This page is a topical directory, not a clinical care guide.