Have a symptom?
See what questions
a doctor would ask.

Glossary for Recessive Genetic Diseases

  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Autosomal Recessive Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • Deuteranopia: A type of altered vision with a confusion of greens and reds
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hemophilia: Blood disease usually genetic causing failure to clot.
  • Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
  • Protanopia: The inability to see all four primary colours rather limited to seeing blu and yellow
  • Red-green color blindness: Inability to distinguish red and green colors.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Spinal Muscular Atrophy type I: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Spinal Muscular Atrophy type II: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
  • Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
  • Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
  • Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
  • Wiskott-Aldrich Syndrome: An inherited immune system disorder that affects only males and is characterized by recurring infections, eczema and reduced level of blood platelets (thrombocytopenia).
  • X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
  • X-linked Recessive Genetic Diseases: Genetic disease where the mutated gene is recessive and on the X chromosome


By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise