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LPL gene related symptoms and diseases

All the information presented here about the LPL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to LPL gene

Symptoms // Phenotype % Cases
Increased VLDL cholesterol concentration Common - Between 50% and 80% cases
Decreased LDL cholesterol concentration Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Fat malabsorption Uncommon - Between 30% and 50% cases
Hypocholesterolemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LPL gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Abetalipoproteinemia
  • Diabetes mellitus
  • Decreased HDL cholesterol concentration
  • Increased circulating chylomicron concentration
  • Abnormality of blood and blood-forming tissues
  • Confusion
  • Abnormality of the cardiovascular system
  • Hypercholesterolemia

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LPL gene

Here you will find a list of rare diseases related to the LPL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Alternate names

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency, anderson disease, andd, lipid transport defect of intestine, hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Description

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

Most common symptoms of FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

SOURCES: ORPHANET OMIM

HYPERLIPOPROTEINEMIA TYPE 5

Alternate names

HYPERLIPOPROTEINEMIA TYPE 5 Is also known as major hyperlipidemia, hyperlipemia, combined fat and carbohydrate-induced, hyperlipidemia, type v, hyperchylomicronemia, late-onset, hyperlipemia, mixed, hlp type 5, hyperchylomicronemia with hyperprebetalipoproteinemia, familial

Description

A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .

Most common symptoms of HYPERLIPOPROTEINEMIA TYPE 5

  • Diabetes mellitus
  • Decreased HDL cholesterol concentration
  • Decreased LDL cholesterol concentration
  • Increased VLDL cholesterol concentration
  • Increased circulating chylomicron concentration


More info about HYPERLIPOPROTEINEMIA TYPE 5

SOURCES: MESH ORPHANET OMIM

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

Alternate names

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B Is also known as apolipoprotein b-100, familial ligand-defective, apolipoprotein b-100, familial defective, hypercholesterolemia, familial, due to ligand-defective apolipoprotein b

Most common symptoms of HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

  • Confusion
  • Abnormality of the cardiovascular system
  • Hypercholesterolemia
  • Coronary artery atherosclerosis
  • Hyperlipoproteinemia


More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

SOURCES: OMIM



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