Type: Genetic

Noonan syndrome

A RAS-MAPK pathway disorder; care is multidisciplinary, with growth hormone used for short stature in selected children.

By
Prof. Giorgi Pkhakadze

Beta-Thalassemia

Beta-Thalassemia What is Beta-Thalassemia? Beta-thalassemia (ORPHA: 848) is a rare inherited blood disorder that affects the production of beta-globin chains,…

By
Prof. Giorgi Pkhakadze

Primary Immunodeficiency

What is Primary Immunodeficiency? Primary immunodeficiency (PID) refers to a group of more than 400 rare genetic disorders that affect…

By
Prof. Giorgi Pkhakadze

Porphyria

Porphyria What is Porphyria? Porphyria represents a group of rare genetic and metabolic disorders caused by defects in the heme…

By
Prof. Giorgi Pkhakadze

Tuberous Sclerosis

Tuberous Sclerosis Complex: A Comprehensive Guide What is Tuberous Sclerosis? Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized…

By
Prof. Giorgi Pkhakadze

Hereditary Haemochromatosis

Hereditary Haemochromatosis What is Hereditary Haemochromatosis? Hereditary haemochromatosis is a genetic disorder that causes the body to absorb too much…

By
Prof. Giorgi Pkhakadze

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