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  2. Rare Disease Genes
  3. PRG4

PRG4 gene related symptoms and diseases

All the information presented here about the PRG4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PRG4 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Constrictive pericarditis Very Common - Between 80% and 100% cases
Synovitis Very Common - Between 80% and 100% cases
Wrist flexion contracture Very Common - Between 80% and 100% cases
Hip pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRG4 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Pleuritis
  • Flexion contracture of toe
  • Iridocyclitis
  • Serositis
  • Uveitis
  • Congenital finger flexion contractures
  • Coxa magna
  • Flattened metatarsal heads

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRG4 gene

Here you will find a list of rare diseases related to the PRG4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

Alternate names

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial, hypertrophic synovitis, congenital familial, pac syndrome, camptodactyly-arthropathy-pericarditis syndrome, arthropathy-camptodactyly syndrome, cacp syndrome, jacobs syndrome, pericarditis-arthropathy-camptodactyly syndrome, cap syn

Description

Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

Most common symptoms of CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

SOURCES: ORPHANET OMIM MESH



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