AGPAT2 gene related symptoms and diseases
All the information presented here about the AGPAT2 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 AGPAT2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Polycystic ovaries | Very Common - Between 80% and 100% cases |
| Hepatic steatosis | Very Common - Between 80% and 100% cases |
| Nephropathy | Very Common - Between 80% and 100% cases |
| Epidermal acanthosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AGPAT2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypertriglyceridemia
- Insulin resistance
- Accelerated skeletal maturation
- Acanthosis nigricans
- Lipodystrophy
- Cirrhosis
- Large hands
- Skeletal muscle hypertrophy
And 105 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AGPAT2 gene
Here you will find a list of rare diseases related to the AGPAT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
Alternate names
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1, lipodystrophy, berardinelli-seip congenital, type 1, brunzell syndrome, agpat2-related, bscl1
Description
Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004).
Most common symptoms of LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
- Intellectual disability
- Cognitive impairment
- Hypertension
- Peripheral neuropathy
- Hepatomegaly
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
SOURCES: OMIM
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
Search interest in AGPAT2
Potential gene panels for AGPAT2 gene
Congenital Generalized Lipodystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Deletion/Duplication Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panel United States.
Comprehensive Lipodystrophy Deletion/Duplication Panel Panel
United States.
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 panel United States.
Comprehensive Lipodystrophy Panel Panel
United States.
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 panel United States.
Congenital Generalized Lipodystrophy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panel United States.
AGPAT2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AGPAT2 gene.
More info about this panel Spain.
AGPAT2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AGPAT2 gene.
More info about this panel Spain.
Congenital lipodystrophy type 1 (sequence analysis of AGPAT2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AGPAT2 gene.
More info about this panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
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 panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
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 panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
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 panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
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 panel Portugal.
Berardinelli-Seip Congenital Lipodystrophy Type 1 Panel
Belgium.
By Centre de Genetique Humaine Institut de Pathologie et de Genetique
This panel specifically test the AGPAT2 gene.
More info about this panel Belgium.
Congenital Generalised Lipodystrophy Type 1 Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the AGPAT2 gene.
More info about this panel United Kingdom.
Congenital Generalized Lipodystrophy (CGL) via AGPAT2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the AGPAT2 gene.
More info about this panel United States.
Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Generalized Lipodystrophy (CGL) Sequencing Panel with CNV Detection that also includes the following genes: CAV1 BSCL2 AGPAT2 CAVIN1
More info about this panel United States.
Progeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Hypertrophic cardiomyopathy - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
More info about this panel Germany.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Congenital Generalized Lipodystrophy Sequential Panel Panel
United States.
By FirmaLab Congenital Generalized Lipodystrophy Sequential Panel that also includes the following genes: BSCL2 AGPAT2
More info about this panel United States.
Lipodystrophy congenital generalized type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AGPAT2 gene.
More info about this panel Germany.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Hypertrophic Cardiomyopathy Extended Panel Panel
Spain.
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panel Spain.
Mixed hyperlipidemias Panel
Spain.
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 panel Spain.
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.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Hypertrophic cardiomyopathy extended panel Panel
Spain.
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Berardinelli-Seip congenital lipodystrophy: AGPAT2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AGPAT2 gene.
More info about this panel Spain.
Endocrine Disorders: Sequencing Panel Panel
United States.
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 panel United States.
Endocrine Disorders: Deletion/Duplication Panel Panel
United States.
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 panel United States.
Lipodystrophy NGS Panel Panel
United States.
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 panel United States.
Congenital Generalized Lipodystrophy Type 1/2 NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Generalized Lipodystrophy Type 1/2 NGS Panel that also includes the following genes: BSCL2 AGPAT2
More info about this panel United States.
AGPAT2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AGPAT2 gene.
More info about this panel United States.
Progeria and Progeroid Syndromes Panel Panel
Finland.
By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5
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.
Congenital and Familial Lipodystrophy Panel Panel
Finland.
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 panel Finland.
Congenital lipodystrophy type 2 Panel
Spain.
By Bioarray
This panel specifically test the AGPAT2 gene.
More info about this panel Spain.
LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel
Spain.
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 panel Spain.
LIPODYSTROPHY, CONGENITAL GENERALIZED (BERARDINELLI-SEIP) Panel
Spain.
By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, CONGENITAL GENERALIZED (BERARDINELLI-SEIP) that also includes the following genes: BSCL2 AGPAT2
More info about this panel Spain.
Berardinelli-Seip Congenital Lipodystrophy Type 1 , Sequencing AGPAT2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the AGPAT2 gene.
More info about this panel Spain.
Lipodystrophy Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
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 panel Spain.
Berardinelli-Seip Congenital Lipodystrophy: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Berardinelli-Seip Congenital Lipodystrophy: gene sequencing panel that also includes the following genes: BSCL2 AGPAT2
More info about this panel Canada.
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