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Rare Diseases Genes

Rare diseases are often caused by inherited genetic changes that can affect multiple body systems. Understanding your genetic profile can help identify disease-associated variants, support early diagnosis, guide personalized care, and provide valuable insights for you and your family.

Categories

Neurological and Neurodevelopmental Disorders

Neuromuscular and Musculoskeletal Disorders

Metabolic and Peroxisomal/Lysosomal Storage Defects

Connective Tissue, Skeletal, and Vascular Disorders

Ciliopathies (Defects in Cellular Antennae)

Epithelial, Glandular, and Respiratory Disorders

Cell Signaling and Endocrine Disruptions

Pages

A4GALT →
ACVRL1 →
ALDH3A2 : aldehyde dehydrogenase 3 family member A2 →
ALMS1P →
AMBN →
BBS1 : Bardet-Biedl syndrome 1 →
BMPR1A →
CFTR →
COL6A3 : collagen type VI alpha 3 chain →
COQ8B : coenzyme Q8B →
DHCR7 : 7-dehydrocholesterol reductase →
DMD →
EPM2A : EPM2A glucan phosphatase, laforin →
FAT1 →
FBN1 →

Disclaimer

The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.