LIPE-AS1 gene related symptoms and diseases

All the information presented here about the LIPE-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIPE-AS1 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-AS1 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-AS1 gene

Here you will find a list of rare diseases related to the LIPE-AS1. 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




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