PLIN1 gene related symptoms and diseases
All the information presented here about the PLIN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLIN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertension | Very Common - Between 80% and 100% cases |
Skeletal muscle hypertrophy | Very Common - Between 80% and 100% cases |
Insulin-resistant diabetes mellitus at puberty | Very Common - Between 80% and 100% cases |
Loss of gluteal subcutaneous adipose tissue | Very Common - Between 80% and 100% cases |
Loss of subcutaneous adipose tissue in limbs | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLIN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Oligomenorrhea
- Insulin-resistant diabetes mellitus
- Lipoatrophy
- Reduced subcutaneous adipose tissue
- Calf muscle hypertrophy
- Lipodystrophy
- Diabetes mellitus
- Hyperinsulinemia
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLIN1 gene
Here you will find a list of rare diseases related to the PLIN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Alternate names
PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld4, plin1-related fpld, lipodystrophy, familial partial, associated with plin1 mutations
Description
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).
Most common symptoms of PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
- Hypertension
- Diabetes mellitus
- Infertility
- Hepatic steatosis
- Epidermal acanthosis
More info about PLIN1-RELATED FAMILIAL PARTIAL LIPODYSTROPHY
Search interest in PLIN1
Potential gene panels for PLIN1 gene
Partial 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 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 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 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 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 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 panelPLIN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLIN1 gene.
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 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 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 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
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