What is the phenotype of Gaucher disease?

Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (GD2; 230900), and subacute neuronopathic type III (GD3; 231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement.

What is the phenotype of Gaucher disease?

Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (GD2; 230900), and subacute neuronopathic type III (GD3; 231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement.

What is the genetic basis of Gaucher disease?

Gaucher disease is caused by changes (mutations) in a single gene called GBA. Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person who has Gaucher disease inherits a mutated copy of the GBAgene from each of his/her parents.

What type of mutation causes Gaucher disease?

Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide).

What is the genotype of someone with Gaucher disease?

In affected patients, genotype data show that the presence of a single N370S allele is diagnostic of the type 1 or nonneuronopathic variant, whereas the L444P/L444P genotype is highly associated with neuronopathic variants in the Caucasian population.

How does Gaucher disease affect the body?

Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue.

Which chromosome is affected by Gaucher disease?

Gaucher disease is an autosomal recessive disorder secondary to mutations in the gene that encodes glucocerebrosidase, GBA1. This gene comprises 11 exons and is located on chromosome 1q21.

What happens in Gaucher disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

Which chromosome is Gaucher disease?

What chromosome does Gaucher disease affect?

How is autosomal recessive inherited?

To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition.

Is Gaucher disease serious?

It is fatal. In most cases children don’t live beyond 2 years old. Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.