KIAA0319L gene related symptoms and diseases
All the information presented here about the KIAA0319L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIAA0319L gene
Symptoms // Phenotype | % Cases |
---|---|
Autoimmunity | Very Common - Between 80% and 100% cases |
Abnormality of the skin | Very Common - Between 80% and 100% cases |
Raynaud phenomenon | Very Common - Between 80% and 100% cases |
Dysphagia | Uncommon - Between 30% and 50% cases |
Pericarditis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KIAA0319L gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Purpura
- Leukopenia
- Systemic lupus erythematosus
- Nephritis
- Glomerulonephritis
- Rheumatoid arthritis
- Abnormality of coagulation
- Increased antibody level in blood
And 42 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIAA0319L gene
Here you will find a list of rare diseases related to the KIAA0319L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
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
Search interest in KIAA0319L
Potential gene panels for KIAA0319L gene
KIAA0319L Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIAA0319L gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCL3 HPSE2 ABCA3 EBF3 CCND2 MLXIPL CACNA1D