LIPA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LIPA gene

Symptoms // Phenotype % Cases
Hepatomegaly Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases
Esophageal varix Very Common - Between 80% and 100% cases
Adrenal calcification Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Anemia
  • Diarrhea
  • Bone-marrow foam cells
  • Steatorrhea
  • Malnutrition
  • Cachexia
  • Abdominal distention
  • Fever

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIPA gene

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


CHOLESTERYL ESTER STORAGE DISEASE


Alternate names

CHOLESTERYL ESTER STORAGE DISEASE Is also known as cholesterol ester storage disease

Description

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.

Most common symptoms of CHOLESTERYL ESTER STORAGE DISEASE

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice
  • Pruritus


More info about CHOLESTERYL ESTER STORAGE DISEASE

SOURCES: ORPHANET

WOLMAN DISEASE


Description

Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

Most common symptoms of WOLMAN DISEASE

  • Global developmental delay
  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever


More info about WOLMAN DISEASE

SOURCES: ORPHANET

LYSOSOMAL ACID LIPASE DEFICIENCY


Alternate names

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency, cholesterol ester hydrolase deficiency, cholesteryl ester storage disease, lipa deficiency, cesd

Description

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

Most common symptoms of LYSOSOMAL ACID LIPASE DEFICIENCY

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


More info about LYSOSOMAL ACID LIPASE DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for LIPA gene

LIPA Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LIPA gene.

More info about this panel

LIPA Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LIPA gene.

More info about this panel

LIPA Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LIPA gene.

More info about this panel

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

Liver Diseases Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Lysosomal Storage Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

LIPA Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the LIPA gene.

More info about this panel

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9

More info about this panel

LIPA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LIPA gene.

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Wolman disease (sequence analysis of LIPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPA gene.

More info about this panel

Hypercholesterolemia, familial (NGS panel for 15 genes) Panel

Portugal.

By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Cholesteryl ester storage disease (sequence analysis of LIPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPA gene.

More info about this panel

Wolman disease (deletion/duplication analysis of LIPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Wolman disease (deletion/duplication analysis of LIPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPA gene.

More info about this panel

Cholesteryl ester storage disease (sequence analysis of LIPA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LIPA gene.

More info about this panel

Wolman Disease and Cholesteryl Ester Storage Disease via LIPA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LIPA gene.

More info about this panel

Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND

More info about this panel

Wolman disease Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Wolman disease Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Wolman disease Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal acid lipase deficiency Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal acid lipase deficiency Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal acid lipase deficiency Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LIPA gene.

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

LIPA Sequence Panel

United States.

By FirmaLab

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal acid lipase deficiency/ Wolman disease (LIPA) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the LIPA gene.

More info about this panel

Wolman disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LIPA gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Lysosomal Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Familialhypercholesterolemia Extended Panel Panel

Spain.

By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2

More info about this panel

Familial Hypercholesterolaemia Genetic Screen Panel

Australia.

By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Comprehensive Lysosomal Storage Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Invitae Lysosomal Acid Lipase Deficiency Test Panel

United States.

By Invitae

This panel specifically test the LIPA gene.

More info about this panel

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

Wolman disease: LIPA gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal Acid Lipase Deficiency: LIPA Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal Storage Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

LIPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIPA gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Hyperlipidemia Panel Panel

Finland.

By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2

More info about this panel

Congenital Hepatic Fibrosis Panel Panel

Finland.

By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7

More info about this panel

Metabolic Liver Failure Panel Panel

Finland.

By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1

More info about this panel

Wolman disease Panel

Spain.

By Bioarray

This panel specifically test the LIPA gene.

More info about this panel

Early onset lysosomal acid lipase deficiency Panel

Spain.

By Bioarray

This panel specifically test the LIPA gene.

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

WOLMAN DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LIPA gene.

More info about this panel

Wolman Disease , Sequencing LIPA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LIPA gene.

More info about this panel

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

More info about this panel

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

More info about this panel


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