LIPE gene related symptoms and diseases

All the information presented here about the LIPE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIPE gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Abnormality of lipid metabolism Very Common - Between 80% and 100% cases
Decreased adiponectin level Very Common - Between 80% and 100% cases
Marked muscular hypertrophy Very Common - Between 80% and 100% cases
Increased intraabdominal fat Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LIPE gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Loss of gluteal subcutaneous adipose tissue
  • Increased adipose tissue around the neck
  • Decreased serum leptin
  • Proximal muscle weakness in upper limbs
  • Loss of subcutaneous adipose tissue in limbs
  • Abdominal obesity
  • Proximal muscle weakness in lower limbs
  • Menstrual irregularities

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIPE gene

Here you will find a list of rare diseases related to the LIPE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


Alternate names

LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld6, lipe-related fpld, lipodystrophy, familial partial, associated with lipe mutations

Description

Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

Most common symptoms of LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

  • Muscle weakness
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase


More info about LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

SOURCES: OMIM ORPHANET


Potential gene panels for LIPE gene

Partial Lipodystrophy Deletion/Duplication Panel Panel

United States.

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 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

Partial Lipodystrophy Panel Panel

United States.

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 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

Lipodystrophy, familial partial Panel

Spain.

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 panel

LIPE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LIPE gene.

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

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


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