HP gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HP gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Aseptic necrosis Uncommon - Between 30% and 50% cases
Atelectasis Uncommon - Between 30% and 50% cases
Asplenia Uncommon - Between 30% and 50% cases
Elevated serum creatinine Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Abnormality of the vasculature
  • Thrombocytosis
  • Reticulocytosis
  • Poor appetite
  • Hypoxemia
  • Iron deficiency anemia
  • Wheezing
  • Myeloid leukemia

And 58 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to HP gene

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


Alternate names

SICKLE CELL ANEMIA Is also known as sickle cell disease


Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

Most common symptoms of SICKLE CELL ANEMIA

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly

More info about SICKLE CELL ANEMIA



Alternate names

ANHAPTOGLOBINEMIA; AHP Is also known as ahaptoglobinemia


Anhaptoglobinemia refers to absence of the serum glycoprotein haptoglobin, a hemoglobin-binding acute-phase protein (summary by Teye et al., 2004). Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin (summary by Delanghe et al., 1998).

Most common symptoms of ANHAPTOGLOBINEMIA; AHP

  • Seizures



Potential gene panels for HP gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Anhaptoglobinemia Panel


By Centogene AG - the Rare Disease Company

This panel specifically test the HP gene.

More info about this panel

HP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HP gene.

More info about this panel

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