LIPI gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LIPI gene

Symptoms // Phenotype % Cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Abnormality of the cardiovascular system Very Common - Between 80% and 100% cases
Hypertriglyceridemia Very Common - Between 80% and 100% cases
Hypocalcemia Very Common - Between 80% and 100% cases
Hyperlipidemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LIPI gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pancreatitis
  • Shock
  • Hypopituitarism
  • Precocious atherosclerosis
  • Decreased HDL cholesterol concentration
  • Hyperlipoproteinemia
  • Acute pancreatitis
  • Abnormal glucose tolerance

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIPI gene

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


HYPERTRIGLYCERIDEMIA, FAMILIAL


Description

Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (OMIM ) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. Genetic Heterogeneity of HypertriglyceridemiaHypertriglyceridemia has many causes but, whatever its cause, there is evidence for its role as a coronary heart disease risk factor. Hypertriglyceridemia is commonly found in individuals with type II diabetes mellitus (OMIM ). Several genetic bases for hypertriglyceridemia have been identified. Familial combined hyperlipidemia (HYPLIP1 ) is due to variation in the USF1 gene (OMIM ) on chromosome 1q21-q23. Some mutations in the ABCA1 gene (OMIM ) caused Tangier disease (OMIM ), whereas others caused a mild disorder called type II familial high density lipoprotein deficiency, or hypoalphalipoproteinemia (OMIM ). Both disorders are associated with hypertriglyceridemia.

Most common symptoms of HYPERTRIGLYCERIDEMIA, FAMILIAL

  • Diabetes mellitus
  • Abnormality of the cardiovascular system
  • Hypertriglyceridemia
  • Hypocalcemia
  • Hyperlipidemia


More info about HYPERTRIGLYCERIDEMIA, FAMILIAL

SOURCES: OMIM


Potential gene panels for LIPI gene

LIPI. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LIPI gene.

More info about this panel

Hyperlipoproteinemia type 4 (sequence analysis of LIPI gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPI gene.

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MAJOR HYPERTRIGLYCERIDEMIA that also includes the following genes: LMF1 APOA5 LIPI CREB3L3 GPIHBP1 APOC2

More info about this panel

LIPI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIPI gene.

More info about this panel

Familial hypertriglyceridemia Panel

Spain.

By Bioarray

This panel specifically test the LIPI gene.

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL MAJOR HYPERTRIGLYCERIDEMIA that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2

More info about this panel

HYPERLIPOPROTEINEMIA TYPE 4 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LIPI gene.

More info about this panel

MAJOR HYPERTRIGLYCERIDEMIA SANGER PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MAJOR HYPERTRIGLYCERIDEMIA SANGER PANEL that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2

More info about this panel

Major Hypertriglyceridemia, Sequencing LIPI Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LIPI gene.

More info about this panel

Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: LMF1 APOA5 LIPI GPIHBP1 APOC2 APOE

More info about this panel


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