Achromatopsia impairs color vision; complete form lacks color distinction, while incomplete form has limited discrimination. CNGA3 and CNGB3 gene mutations prevalent in majority of cases.
Beta thalassemia is an inherited blood disorder characterized by reduced production of hemoglobin due to the mutation in HBB gene, causing a lack of oxygen in the body.
Canavan disease is a rare hereditary disorder caused by mutations in ASPA gene. It belongs to the group of leukodystrophies and is associated with the defects in nerve signaling.
Congenital hyperinsulinism is a disease where insulin (hormone that helps control blood sugar) in secreted in abnormally high levels, it causes frequent episodes of low blood sugar, even after eating.
Cystic fibrosis: an inherited disorder causing excessive mucus production due to CFTR gene mutations, affecting multiple systems. Treatment includes airway clearance, medications, and surgery.
Fanconi anemia is a rare autosomal recessive disorder that is caused by inactivation of one of at least 22 genes. Products of those genes have important role in DNA reparation during DNA replication.
Galactosemia is a group of inherited autosomal recessive disorders, resulting from a defect of galactose metabolism (a sugar contained in milk). Symptoms and severity depend on what gene is affected.
Hemophilia is an inherited bleeding disorder, linked to chromosome X, that slows the blood clotting process (due to the partial or total deficiency of a clotting factor).
Hereditary fructose intolerance is an autosomal recessive disease, caused by the absence of an enzyme: aldolase B. It negatively affects one’s ability to digest fructose (simple sugar).
Leucinosis is an inborn error of metabolism. The body is unable to process certain amino acids (leucine, isoleucine and valine), causing a build-up of substances in the urine and blood.
Nonsyndromic hearing loss (NSHL) is a partial or total loss of hearing that is not associated with other signs and symptoms. It’s important to provide screening for hearing loss for children early.
OA can be a result of congenital bilateral absence of the vas deferens (CBAVD) associated with CFTR gene mutations. It is characterized by the absence of spermatozoa in the ejaculate.
Pendred syndrome is an autosomal recessive disorder usually characterized by hearing loss in both ears and enlargement of the thyroid gland, but with its normal function (goiter).
Phenylketonuria (PKU) is a rare genetic disorder caused by the deficiency of the PAH enzyme, leading to the accumulation of phenylalanine in the body.
This autosomal recessive disease is caused by mutations in the PKHD1 gene and affects mainly the kidneys, but other organs can be also affected. Present cysts interfere with kidneys proper function.
Primary hyperoxaluria is an autosomal recessive disorder causing excessive oxalate production, leading to kidney stones. Treatable if detected early (vitamin B6, lithotripsy, specialized treatment).
Sickle cell anemia is a common autosomal recessive disorder caused by HBB gene mutations. It leads to sickle-shaped red blood cells, blocking capillaries and causing varied clinical symptoms.
Usher syndrome is a rare genetic disease, affecting both hearing and vision. There are three types: I, II, and III, with different severity and the age when symptoms appear.
Wilson disease is a monogenic disorder affecting copper metabolism. It is caused by mutations in the ATP7B gene. Early diagnosis is essential to prevent hepatic and systemic complications.
