GenTIGSA Gene Database on Rare Genetic Disorders

Explore information by Inheritance Mode 

Autosomal dominant,Autosomal recessive

Monogenic disorders list based on single and multiple genes


Disorder Name (Total=1) Aliases Category Gene Indian Reports Link
Homozygous familial hypercholesterolemia • HoFH
• Familial homozygous hypercholesterolemia
• Familial hypercholesterolemia - homozygous
• Hypercholesterolemias, Homozygous Familial
Metabolic disorders LDLR low density lipoprotein receptor
Reports
Updated as of Aug 17, 2026
PubMed