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Genetic disorders

Genetic disorders

Goodpasture’s Syndrome: Autoimmunity Gone Wrong

Goodpasture's Syndrome, more accurately referred to today as anti-GBM disease, is a rare autoimmune small vessel vasculitis. In this condition, the immune system produces circulating antibodies that mistakenly attack...
Dr. Fatima Shoukat -
Congenital Disorders

Kleefstra Syndrome: Causes, Symptoms, and Treatment

Dr. Moeez Nadeem -
Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a...
Congenital Disorders

Carpenter Syndrome: Causes, Symptoms, and Treatment Options

Dr. Moeez Nadeem -
Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in...
Congenital Disorders

Krabbe’s Disease: A Rare and Fatal Neurological Disorder

Abdul Qadir -
What is Krabbe Disease? Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage...
Congenital Disorders

Tangier Disease: Causes, Symptoms and Risks

Irum Shoukat -
Tangier Disease is a rare genetic disorder characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol, also...

Crigler Najjar Syndrome: Understanding a Rare Condition

Children Dr. Ayesha Maqsood Dr. Ayesha Maqsood -
Crigler Najjar syndrome is an inherited disorder in which genetic abnormality causes a poor function of enzymes involved in bilirubin processing, and it leads...
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