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  2. Rare Disease Genes
  3. PLCE1-AS1

PLCE1-AS1 gene related symptoms and diseases

All the information presented here about the PLCE1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PLCE1-AS1 gene

Symptoms // Phenotype % Cases
Edema Very Common - Between 80% and 100% cases
Renal insufficiency Very Common - Between 80% and 100% cases
Proteinuria Very Common - Between 80% and 100% cases
Abnormality of the kidney Very Common - Between 80% and 100% cases
Stage 5 chronic kidney disease Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PLCE1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Nephrotic syndrome
  • Hypoalbuminemia
  • Glomerulosclerosis
  • Focal segmental glomerulosclerosis
  • Diffuse mesangial sclerosis
  • Steroid-resistant nephrotic syndrome
  • Mesangial hypercellularity

Rare diseases associated to PLCE1-AS1 gene

Here you will find a list of rare diseases related to the PLCE1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEPHROTIC SYNDROME, TYPE 3; NPHS3

Alternate names

NEPHROTIC SYNDROME, TYPE 3; NPHS3 Is also known as nephrotic syndrome, early-onset, type 3

Description

Nephrotic syndrome, a malfunction of the glomerular filter, is characterized clinically by proteinuria, edema, and end-stage renal disease (ESRD). Renal histopathology may show diffuse mesangial sclerosis (DMS) or focal segmental glomerulosclerosis (FSGS) (Hinkes et al., 2006).Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen (Gbadegesin et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

Most common symptoms of NEPHROTIC SYNDROME, TYPE 3; NPHS3

  • Edema
  • Renal insufficiency
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


More info about NEPHROTIC SYNDROME, TYPE 3; NPHS3

SOURCES: OMIM



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