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hypercholesterolemia, autosomal dominant, 3 | RareConnect | RareConnect.io

/familial hypercholesterolemia

/hypercholesterolemia, autosomal dominant, 3

hypercholesterolemia, autosomal dominant, 3

Rare Disease

MONDO:0011369

Also Known As

PCSK9 familial hypercholesterolemiafamilial hypercholesterolemia caused by mutation in PCSK9hypercholesterolemia, autosomal dominant, 3hypercholesterolemia, autosomal dominant, type 3hypercholesterolemia, familial, 3low density lipoprotein cholesterol level QTL 1Fh3HCHOLA3low density lipoprotein cholesterol level quantitative trait locus 1

Definition

Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:603776 ↗

Related Diseases

hypercholesterolemia, familial, 1

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hypercholesterolemia, autosomal dominant, type B

MONDO:0007751

hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

MONDO:0016203

homozygous familial hypercholesterolemia

MONDO:0018328

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