IRF5 gene related symptoms and diseases
All the information presented here about the IRF5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRF5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Autoimmunity | Common - Between 50% and 80% cases |
| Abnormality of the skin | Uncommon - Between 30% and 50% cases |
| Dysphagia | Uncommon - Between 30% and 50% cases |
| Narrow foramen obturatorium | Uncommon - Between 30% and 50% cases |
| Xerostomia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IRF5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Antinuclear antibody positivity
- Malabsorption
- Weight loss
- Diarrhea
- Fatigue
- Hypertension
- Gastroesophageal reflux
- Raynaud phenomenon
And 107 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IRF5 gene
Here you will find a list of rare diseases related to the IRF5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INFLAMMATORY BOWEL DISEASE 14; IBD14
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma
Description
Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.
Most common symptoms of LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
- Dysphagia
- Gastroesophageal reflux
- Autoimmunity
- Nausea and vomiting
- Abnormality of skin pigmentation
More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: ORPHANET
PRIMARY BILIARY CHOLANGITIS
Alternate names
PRIMARY BILIARY CHOLANGITIS Is also known as pbc, hanot syndrome, primary biliary cirrhosis
Description
Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.
Most common symptoms of PRIMARY BILIARY CHOLANGITIS
- Hypertension
- Fatigue
- Diarrhea
- Encephalopathy
- Osteoporosis
More info about PRIMARY BILIARY CHOLANGITIS
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
Alternate names
DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma, diffuse cutaneous systemic scleroderma, progressive cutaneous systemic sclerosis
Description
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
Most common symptoms of DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
- Muscle weakness
- Pain
- Flexion contracture
- Hypertension
- Dysphagia
More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS
SOURCES: 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).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
More info about SYSTEMIC LUPUS ERYTHEMATOSUS
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10
Search interest in IRF5
Potential gene panels for IRF5 gene
IRF5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IRF5 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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