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.

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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). 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 KIAA0319L gene

KIAA0319L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KIAA0319L gene.

More info about this panel


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