Genetic Disorder (Alosommal) Flashcards
Disorders that are seen more commonly in FEMALES than males, or in the case of some disease, affect ONLY FEMALES.
X-linked Dominant Disorders
What are some examples of X-linked Dominant Disorders?
• Rett Syndrome
• Lissencephaly
• Double-cortex syndrome
• Incontinentia pigmenti type 1
Disorder characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells with CARDIOMYOPATHY and SKELETAL MYOPATHY, with or without conduction defect.
Danon Disease
X-LINKED DOMINANT DISORDER that are associated with seizures and mental retardation. The condition is presumed to be lethal to boys in utero because nearly 100% of cases are female.
Incontinentia Pigmenti
What is the gene defect of Incontinentia Pigmenti (X-linked Dominant Disorders) ?
IKBKG gene
Stage of Incontentia Pigmenti wherein the lines of BLISTERS are present on the trunk and extremities of the newborn that disappear in weeks or months.
Stage 1 - Vesicular Stage
The stage of Incontinentia Pigmenti wherein lesions develop in the patient at about 3-7 months of age that are brown and hyperkeratotic, resembling WARTS; these disappear over 1-2 years.
Stage 2 - Verrucous Stage
The stage of Incontinentia Pigmenti wherein whorled, swirling (MARBLE CAKE-LIKE) macular, hyperpigmented lines develop. These may fade over time, leaving only remnant hypo pigmentation in late adolescence or adulthood.
Stage 3 - Pigmented Stage
The stage of Incontinentia Pigmenti wherein had skin pallor, atrophy, and scarring. It also causes reduction of hair in the involved SCARRED AREAS, both on the limbs and scalp. Most evident on lower legs.
Stage 4 - Atrophic (Scarred) Stage
Disorders that common genetic cause of severe INTELLECTUAL DISABILITY IN FEMALES.
Rett Syndrome
What is the gene defect of Rett Syndrome (X-linked Dominant Disorders) ?
MECP2 gene
It is inherited through a genetic defect on an X chromosome. It causes the phenotype to be always expressed in males. But females with ONE COPY OF MUTATED GENE CARRIERS.
X-linked Recessive Disorder
A visuality of a person that affects visuality in terms of color red and green. It affects males more often than females.
Red-Green Color Blindness
What is the gene defect of Red-Green Color Blindness (X-linked Recessive) ?
OPN1LW, OPN1MW, and OPN1SW genes
Red-Green Color Blindness also known as?
Daltonism
A disorder where the BLOOD CANNOT CLOT PROPERLY due to a deficiency of a clotting factor.
Hemophilia A
Clotting Factor also called as?
Factor VIII
What is the gene defect of Hemophilia A (X-linked Recessive) ?
Factor VIII (F8)
The mutated gene that causes the disorder is located on the Y chromosome. MUTATION THAT CAN ONLY BE PASSED FROM FATHER TO SON but difficult to detect.
Y-linked
Example of Y-linked disorder also known as HEARING IMPAIRMENT?
Deafness, Y-linked 1 (DFNY1)
It is an extra electrical pathway in the heart that leads to periods of rapid heart rate (tachycardia).
Wolff-Parkinson-White Syndrome (WPW)
What is the genetic trait of Red-Green Color Blindness?
X-linked Recessive
What genetic trait is Hemophilia?
X-linked recessive
What are some examples of X-linked recessive disorder?
• Red-Green Color Blindness
• Hemophilia A
what type of defect is Blue-Yellow Color Vision Defects?
Tritan defect
What is the gene defect of Wolff-Parkinson White Syndrome?
Lysosome-Associated Membrane Procedure 2 (LAMP2)
