Genetic Disorders: Marfan and Albinism

A genetic condition inherited through autosomal dominant pattern, linked to mutations in the FBN1 gene.

A type of inheritance where a single mutated gene from one parent can lead to a genetic condition in the offspring.

The gene responsible for producing fibrillin-1, a protein crucial for connective tissue.

Maintains elasticity and stability in connective tissues, like those in the aorta.

Marfan syndrome can lead to aortic problems, including aneurysm and dilation, potentially causing life-threatening dissection.

Estimated to affect 1 in 3000 to 5000 individuals, highlighting its relatively common occurrence.

A new mutation in the FBN1 gene, not inherited from parents, can cause symptoms.

The possibility the condition is not caused by a genetic mutation.

A hereditary disorder affecting connective tissue, causing skeletal, cardiovascular, and ocular issues.

A pigment that determines skin, hair, and eye color.

A group of genetic conditions causing reduced or absent melanin production.

The outermost germ layer during embryonic development that gives rise to skin, hair, and nerves.

Conditions passed down through families due to mutations in genes.

The color of the skin due to the presence and amount of melanin.

Diseases or traits caused by changes in an organism's DNA.

A change in the DNA sequence that can cause a genetic condition.

A group of genetic conditions that result in a lack of pigment in the skin, hair, and eyes.

A gene involved in the production of melanin, a pigment in the skin, hair, and eyes.

A gene that helps make melanin.

A gene that plays a key role in melanin production.

A gene involved in pigmentation.

A rare genetic disorder causing muscle stiffness and movement problems.

Filipino term for X-linked dystonia parkinsonism (XDP).

A less common type of albinism that only affects the eyes.

People with albinism often have poor vision due to various eye conditions.

Rapid, involuntary eye movement.

Sensitivity to bright light and glare.

Incomplete development of the foveal pit in the eye, causing vision problems.

People with albinism are at a higher risk of skin cancer.

Regular eye exams, corrective lenses, and assistive devices are crucial for managing vision problems related to albinism.

A neurological disorder causing involuntary muscle contractions, leading to twisting movements and abnormal postures. It can affect various body parts like the neck, face, or limbs.

A neurodegenerative disorder primarily affecting movement. It's characterized by the loss of dopamine-producing neurons in the brain, particularly in the substantia nigra region.

Dystonia leads to painful muscle spasms, impacts movements and postures, and can cause abnormal postures.

Parkinsonism includes symptoms like bradykinesia (slow movement), rigidity, resting tremors, and postural instability.

A type of dystonia (a movement disorder) involving involuntary muscle contractions, particularly affecting the back causing severe back pain.

A rare genetic disorder that causes a combination of symptoms similar to Parkinson's disease and dystonia.

There's no cure for XDP, but medications like Carbidopa/Levodopa, anticholinergic drugs, and Tetrabenazine/Zolpidem can help manage symptoms.

Botulinum Toxin Injections are used to treat focal dystonia by reducing involuntary muscle contractions in specific body areas.

A group of genetic disorders causing a lack of melanin production, leading to reduced pigmentation in the skin, hair, and eyes.

A pattern of inheritance where a child inherits two copies of a mutated gene, one from each parent, to develop a trait.

A single nucleotide is swapped for another in the DNA sequence, which may result in a different amino acid in the final protein.

A mutation that creates a premature stop codon in the DNA sequence, resulting in a shortened and often non-functional protein.

A mutation affecting areas of the genetic code that are skipped, resulting in disrupted protein coding sequence.

Removing one or more nucleotides from the DNA sequence, altering the protein structure.

Adding one or more extra nucleotides into the DNA sequence.

Alteration in DNA sequence causing an extra or fewer nucleotide, which in turn shifts the reading frame during protein synthesis.

Mutations like frameshifts and nonsense mutations that completely or partially disable a gene's protein product.

A segment or piece of DNA is repeated, which may result in an extra section of protein or code produced.