PNPLA2 gene related symptoms and diseases
All the information presented here about the PNPLA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PNPLA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Insulin resistance | Very Common - Between 80% and 100% cases |
| Obesity | Very Common - Between 80% and 100% cases |
| Diabetes mellitus | Very Common - Between 80% and 100% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Proximal muscle weakness | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PNPLA2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Elevated hepatic transaminase
- Difficulty walking
- Elevated serum creatine phosphokinase
- Areflexia
- Recurrent infections
- Congestive heart failure
- Distal muscle weakness
- Myopathy
And 54 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PNPLA2 gene
Here you will find a list of rare diseases related to the PNPLA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
NEUTRAL LIPID STORAGE MYOPATHY
Alternate names
NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis, nlsdm, triglyceride deposit cardiomyovasculopathy, neutral lipid storage disease without ichthyosis
Description
Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).
Most common symptoms of NEUTRAL LIPID STORAGE MYOPATHY
- Short stature
- Generalized hypotonia
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
More info about NEUTRAL LIPID STORAGE MYOPATHY
Search interest in PNPLA2
Potential gene panels for PNPLA2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel United States.
PNPLA2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PNPLA2 gene.
More info about this panel Germany.
PNPLA2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PNPLA2 gene.
More info about this panel Spain.
Neutral lipid storage disease with myopathy (sequence analysis of PNPLA2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PNPLA2 gene.
More info about this panel Portugal.
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6
More info about this panel United States.
Neutral Lipid Storage Disease with Myopathy via PNPLA2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PNPLA2 gene.
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this panel United States.
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis Panel
Germany.
By MGZ Medical Genetics Center Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 FKRP ABHD5 CPT2 ANO5 DMD ISCU FDX2
More info about this panel Germany.
Neutral Lipid Storage Disease with Myopathy Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PNPLA2 gene.
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Mitochondrial Diseases Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panel Germany.
Muscle Disease with Distal Myopathy Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2
More info about this panel Germany.
Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK
More info about this panel Germany.
Episodic Ataxia and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1
More info about this panel Germany.
Neutral lipid storage disease with myopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PNPLA2 gene.
More info about this panel Germany.
Metabolic myopathies panel Panel
Germany.
By Centogene AG - the Rare Disease Company Metabolic myopathies panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Metabolic Myopathies Panel Panel
Germany.
By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Metabolic Myopathy and Rhabdomyolysis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panel Estonia.
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 Spain.
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 Spain.
Primary familial hypertriglyceridemias Panel
Spain.
By Health in Code Primary familial hypertriglyceridemias that also includes the following genes: LMF1 PCDH15 TRIB1 APOA5 GPIHBP1 SLC25A40 PNPLA2 GPD1 APOC2 APOC3
More info about this panel Spain.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Comprehensive Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
Invitae Limb-Girdle Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
METABOLIC MYOPATHIES Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases METABOLIC MYOPATHIES that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Spain.
Limb-Girdle Muscular Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Limb-Girdle Muscular Dystrophy NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel United States.
PNPLA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PNPLA2 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
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 Finland.
Lipid Myopathies , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Lipid Myopathies , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SLC22A5 ABHD5 PNPLA2 ETFA ETFB ETFDH
More info about this panel Spain.
Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA
More info about this panel Spain.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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