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.

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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). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

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


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

AGPAT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGPAT2 gene.

More info about this panel

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

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

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

Congenital lipodystrophy type 2 Panel

Spain.

By Bioarray

This panel specifically test the AGPAT2 gene.

More info about this panel

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

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

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

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

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


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