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.

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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

SOURCES: OMIM ORPHANET

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



More info about WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1

SOURCES: OMIM


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

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

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

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

ACKR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACKR1 gene.

More info about this panel


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