PPARG gene related symptoms and diseases
All the information presented here about the PPARG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PPARG gene
Symptoms // Phenotype | % Cases |
---|---|
Diabetes mellitus | Uncommon - Between 30% and 50% cases |
Insulin resistance | Uncommon - Between 30% and 50% cases |
Epidermal acanthosis | Uncommon - Between 30% and 50% cases |
Hyperinsulinemia | Uncommon - Between 30% and 50% cases |
Acanthosis nigricans | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PPARG gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hepatic steatosis
- Polycystic ovaries
Rarely - Less than 30% cases
- Lipoatrophy
- Generalized hirsutism
- Hypertriglyceridemia
- Myocardial infarction
- Glucose intolerance
- Type II diabetes mellitus
And 144 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PPARG gene
Here you will find a list of rare diseases related to the PPARG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADENOCARCINOMA OF THE ESOPHAGUS
Alternate names
ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia
Description
Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.
Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS
- Dysphagia
- Obesity
- Gastroesophageal reflux
- Feeding difficulties in infancy
- Cough
More info about ADENOCARCINOMA OF THE ESOPHAGUS
PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Alternate names
PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3, fpld3, pparg-related fpld, lipodystrophy, familial partial, associated with pparg mutations
Description
This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.
Most common symptoms of PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
- Hypertension
- Hepatomegaly
- Myopathy
- Congestive heart failure
- Splenomegaly
More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
GLIOSARCOMA
GIANT CELL GLIOBLASTOMA
DIFFERENTIATED THYROID CARCINOMA
Alternate names
DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc
Description
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Most common symptoms of DIFFERENTIATED THYROID CARCINOMA
- Neoplasm
- Pain
- Carcinoma
- Hoarse voice
- Goiter
More info about DIFFERENTIATED THYROID CARCINOMA
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
Alternate names
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes, generalized congenital lipodystrophy, gcl, brunzell syndrome, bscl, beradinelli-seip syndrome
Description
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).
Most common symptoms of BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
- Intellectual disability
- Global developmental delay
- Short stature
- Scoliosis
- Growth delay
More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY
SOURCES: ORPHANET
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
Alternate names
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d
Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
- Diabetes mellitus
- Type II diabetes mellitus
- Insulin resistance
- Type I diabetes mellitus
- Hyperinsulinemia
More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
OBESITY
Description
excessively high accumulation of body fat or adipose tissue in relation to lean body mass; the amount of body fat (or adiposity) includes concern for both the distribution of fat throughout the body and the size of the adipose tissue deposits; individuals are usually at high clinical risk because of excess amount of body fat (BMI greater than 30).
Most common symptoms of OBESITY
- Hypertension
- Obesity
- Hypogonadism
- Diabetes mellitus
- Weight loss
More info about OBESITY
SOURCES: OMIM
CAROTID INTIMAL MEDIAL THICKNESS 1
Alternate names
CAROTID INTIMAL MEDIAL THICKNESS 1 Is also known as intimal medial thickness of internal carotid artery, cimt1
Most common symptoms of CAROTID INTIMAL MEDIAL THICKNESS 1
- Increased carotid artery intimal medial thickness
More info about CAROTID INTIMAL MEDIAL THICKNESS 1
SOURCES: OMIM
Search interest in PPARG
Potential gene panels for PPARG gene
MitoMet®Plus aCGH Analysis Panel
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 panelMetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panelPPARG Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PPARG gene.
More info about this panelMetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH HADH
More info about this panelPPARG Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the PPARG gene.
More info about this panelPartial Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelComprehensive Lipodystrophy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelComprehensive Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panelPartial Lipodystrophy Panel Panel
By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1
More info about this panelObesity, PPARG-Related Panel
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the PPARG gene.
More info about this panelObesity (sequence analysis of PPARG gene) Panel
By CGC Genetics
This panel specifically test the PPARG gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelFamilial partial lipodystrophy (sequence analysis of PPARG gene) Panel
By CGC Genetics
This panel specifically test the PPARG gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelLipodystrophies (NGS panel for 17 genes) Panel
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panelFamilial partial lipodystrophy (sequence analysis of PPARG gene) Panel
By CGC Genetics
This panel specifically test the PPARG gene.
More info about this panelLipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panelCarotid intimal medial thickness 1 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PPARG gene.
More info about this panelDiabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PPARG gene.
More info about this panelFamilial partial lipodystrophy type 3 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the PPARG gene.
More info about this panelFamilial Partial Lipodystrophy Type 3 Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the PPARG gene.
More info about this panelDisorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1
More info about this panelComprehensive Monogenic Obesity Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panelLipodystrophy Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Lipodystrophy that also includes the following genes: LMNA PPARG
More info about this panelLipodystrophy - panel diagnostics Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Lipodystrophy - panel diagnostics that also includes the following genes: CIDEC AKT2 LMNA PLIN1 PPARG
More info about this panelCarotid intimal medial thickness type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PPARG gene.
More info about this panelObesity, severe Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PPARG gene.
More info about this panelLipodystrophy, familial partial, type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PPARG gene.
More info about this panelFamilial Partial Lipodystrophy type 3 Panel
By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology
This panel specifically test the PPARG gene.
More info about this panelFatty Acid Oxidation Disorder Panel
By Asper Biogene Asper Biogene LLC Fatty Acid Oxidation Disorder that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panelMixed hyperlipidemias Panel
By Health in Code Mixed hyperlipidemias that also includes the following genes: ZMPSTE24 CAV1 BSCL2 INSIG2 CIDEC AGPAT2 AKT2 INSR LEP LMNA
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelDyslipidemias / Early atherosclerosis Panel
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 panelCarotid intimal medial thickness 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PPARG gene.
More info about this panelInsulin resistance, severe, digenic Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PPARG gene.
More info about this panelLipodystrophy, familial partial, 3 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PPARG gene.
More info about this panelObesity, severe, susceptibility to, Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PPARG gene.
More info about this panelCarotid intimal medial thickness 1 Panel
By MedGene
This panel specifically test the PPARG gene.
More info about this panelInsulin resistance, severe, digenic Panel
By MedGene
This panel specifically test the PPARG gene.
More info about this panelLipodystrophy, familial partial, 3 Panel
By MedGene
This panel specifically test the PPARG gene.
More info about this panelObesity, severe, susceptibility to, Panel
By MedGene
This panel specifically test the PPARG gene.
More info about this panelLipodystrophy, familial partial Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Lipodystrophy, familial partial that also includes the following genes: CIDEC LIPE LMNA PLIN1 PPARG
More info about this panelEndocrine Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelEndocrine Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24
More info about this panelLipodystrophy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lipodystrophy NGS Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 AKT2 LMNA PPARG CAVIN1
More info about this panelPPARG Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPARG gene.
More info about this panelMonogenic Obesity Panel Panel
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panelComprehensive Monogenic Diabetes Panel Panel
By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57
More info about this panelComprehensive Metabolism Panel Panel
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 panelFatty Acid Oxidation Syndrome Panel Panel
By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB
More info about this panelCongenital and Familial Lipodystrophy Panel Panel
By Blueprint Genetics Congenital and Familial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 AGPAT2 AKT2 LIPE LMNA PLIN1 PPARG
More info about this panelSolid Tumor Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panelGenitourinary Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1
More info about this panelMonogenic Diabetes NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Monogenic Diabetes NGS and Deletion/Duplication Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 CEL
More info about this panelPPARG Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PPARG gene.
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panelLIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE
More info about this panelLIPODYSTROPHY, FAMILIAL PARTIAL Panel
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL that also includes the following genes: LMNA PPARG
More info about this panelSolid Tumor Targeted Mutation and Fusion Panel Panel
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelFatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel
By Reference Laboratory Genetics Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1
More info about this panelLipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: ZMPSTE24 CAV1 BSCL2 CIDEC AGPAT2 LMNA LMNB2 PLIN1 PPARG CAVIN1
More info about this panelSevere Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDC3 SIM1 UCP1 UCP3 GHRL CARTPT ADRB3 PPARGC1B AGRP ENPP1
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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