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  2. Rare Disease Genes
  3. JAZF1

JAZF1 gene related symptoms and diseases

All the information presented here about the JAZF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to JAZF1 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Aseptic necrosis Uncommon - Between 30% and 50% cases
Abnormality of coagulation Uncommon - Between 30% and 50% cases
Increased antibody level in blood Uncommon - Between 30% and 50% cases
Abnormality of the thyroid gland Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with JAZF1 gene alterations may also develop some of the following symptoms and phenotypes:

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

  • Autoimmune hemolytic anemia
  • Pericarditis
  • Thyroiditis
  • Autoimmune thrombocytopenia
  • Epiphyseal stippling
  • Glomerulonephritis
  • Hashimoto thyroiditis
  • Gangrene

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to JAZF1 gene

Here you will find a list of rare diseases related to the JAZF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

ENDOMETRIAL STROMAL SARCOMA

Alternate names

ENDOMETRIAL STROMAL SARCOMA Is also known as stromal sarcoma of the corpus uteri


More info about ENDOMETRIAL STROMAL SARCOMA

SOURCES: ORPHANET


Potential gene panels for JAZF1 gene

JAZF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JAZF1 gene.

More info about this panel
United States.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

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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