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.
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.
SICKLE CELL ANEMIA
Alternate names
SICKLE CELL ANEMIA Is also known as sickle cell disease
Description
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
ANHAPTOGLOBINEMIA; AHP
Alternate names
ANHAPTOGLOBINEMIA; AHP Is also known as ahaptoglobinemia
Description
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
More info about ANHAPTOGLOBINEMIA; AHP
SOURCES: OMIM
Search interest in HP
Potential gene panels for HP gene
MitoMet®Plus aCGH Analysis Panel
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 panelAnhaptoglobinemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the HP gene.
More info about this panelHP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HP gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HSPD1 PRPH GRHPR PEX1 TANGO2 DCTN1 APOB