ABCG2 gene related symptoms and diseases

All the information presented here about the ABCG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCG2 gene

Symptoms // Phenotype % Cases
Arthritis Uncommon - Between 30% and 50% cases
Abnormality of the skin Uncommon - Between 30% and 50% cases
Hyperuricemia Uncommon - Between 30% and 50% cases
Gout Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ABCG2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hepatomegaly
  • Cardiomegaly
  • Spontaneous abortion
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ABCG2 gene

Here you will find a list of rare diseases related to the ABCG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1


Alternate names

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Is also known as gout1, gout susceptibility 1

Description

Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait LociSee also UAQTL2 (see {612076}), conferred by variation in the SLC2A9 gene (OMIM ) on chromosome 4p; UAQTL4 (OMIM ), conferred by variation in the SLC17A3 gene (OMIM ) on chromosome 6p21; UAQTL5 (OMIM ), associated with a SNP on chromosome 19q13; and UAQTL6 (OMIM ), associated with a SNP on chromosome 1.

Most common symptoms of URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

  • Arthritis
  • Abnormality of the skin
  • Hyperuricemia
  • Gout


More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

SOURCES: OMIM

BLOOD GROUP, JUNIOR SYSTEM; JR


Description

Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent (summary by Kim et al., 2010 and Zelinski et al., 2012).

Most common symptoms of BLOOD GROUP, JUNIOR SYSTEM; JR

  • Anemia
  • Hepatomegaly
  • Cardiomegaly
  • Spontaneous abortion


More info about BLOOD GROUP, JUNIOR SYSTEM; JR

SOURCES: OMIM


Potential gene panels for ABCG2 gene

ABCG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCG2 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IFRD1 TPM1 APOL1 FLG HNRNPU

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more