KLHL30 gene related symptoms and diseases

All the information presented here about the KLHL30 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KLHL30 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Increased mean corpuscular volume Very Common - Between 80% and 100% cases
Leukocytosis Very Common - Between 80% and 100% cases
Osteomyelitis Very Common - Between 80% and 100% cases
Microcytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KLHL30 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

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

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KLHL30 gene

Here you will find a list of rare diseases related to the KLHL30. 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

SOURCES: OMIM MESH ORPHANET




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