ACKR1 gene related symptoms and diseases
All the information presented here about the ACKR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACKR1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cognitive impairment | Uncommon - Between 30% and 50% cases |
| Abnormality of blood and blood-forming tissues | Uncommon - Between 30% and 50% cases |
| Abnormality of metabolism/homeostasis | Uncommon - Between 30% and 50% cases |
| Morphological abnormality of the central nervous system | Uncommon - Between 30% and 50% cases |
| Elevated C-reactive protein level | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACKR1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gait imbalance
- Reduced consciousness/confusion
- Acute kidney injury
- Hyperbilirubinemia
- Anemia
- Nausea and vomiting
- Retinopathy
- Myalgia
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACKR1 gene
Here you will find a list of rare diseases related to the ACKR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MALARIA
Description
Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Most common symptoms of MALARIA
- Cognitive impairment
- Anemia
- Fever
- Respiratory distress
- Headache
More info about MALARIA
BLOOD GROUP, DUFFY SYSTEM; FY
Alternate names
BLOOD GROUP, DUFFY SYSTEM; FY Is also known as duffy blood group system
Description
The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM ), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see {611162}). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by Pogo and Chaudhuri (2000), Langhi and Bordin (2006), and Meny (2010)).
Most common symptoms of BLOOD GROUP, DUFFY SYSTEM; FY
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
More info about BLOOD GROUP, DUFFY SYSTEM; FY
SOURCES: OMIM
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1
Search interest in ACKR1
Potential gene panels for ACKR1 gene
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Duffy (Fya/Fyb) Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the ACKR1 gene.
More info about this panel United States.
Red Cell Genotyping Panel Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti Red Cell Genotyping Panel that also includes the following genes: RHCE RHD SLC14A1 ACKR1 GYPA GYPB KEL BCAM ART4
More info about this panel United States.
ACKR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACKR1 gene.
More info about this panel United States.
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