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PTPN22 gene related symptoms and diseases

All the information presented here about the PTPN22 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PTPN22 gene

Symptoms // Phenotype % Cases
Gangrene Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases
Pericarditis Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Vasculitis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PTPN22 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Arthritis

  • Not very common - Between 30% and 50% cases

  • Seizures
  • Hearing impairment
  • Skin rash
  • Stroke
  • Cough
  • Paresthesia
  • Hematuria

And 160 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PTPN22 gene

Here you will find a list of rare diseases related to the PTPN22. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GRANULOMATOSIS WITH POLYANGIITIS

Alternate names

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly, gpa, wg, formerly

Description

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

Most common symptoms of GRANULOMATOSIS WITH POLYANGIITIS

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


More info about GRANULOMATOSIS WITH POLYANGIITIS

SOURCES: ORPHANET OMIM MESH

VOGT-KOYANAGI-HARADA DISEASE

Alternate names

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Description

Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

Most common symptoms of VOGT-KOYANAGI-HARADA DISEASE

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


More info about VOGT-KOYANAGI-HARADA DISEASE

SOURCES: ORPHANET MESH

GIANT CELL ARTERITIS

Alternate names

GIANT CELL ARTERITIS Is also known as horton disease, giant cell arteritis, temporal arteritis, cranial arteritis, polymyalgia rheumatica, gca

Description

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

Most common symptoms of GIANT CELL ARTERITIS

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


More info about GIANT CELL ARTERITIS

SOURCES: OMIM ORPHANET

SYSTEMIC LUPUS ERYTHEMATOSUS

Alternate names

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle

Description

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET


Potential gene panels for PTPN22 gene

PTPN22 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTPN22 gene.

More info about this panel
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

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