Everything Else Flashcards
Retinoblastoma
RB1 on chr. 13 protein regulates cell cycle 90% penetrance, AD
RB1 on chr. 13 protein regulates cell cycle 90% penetrance, AD
Retinoblastoma
Diseases with reduced penetrance
Retinoblastoma, BRCA mutation, Huntington disease
Hemophilia A
Mutation: F8 deficiency of factor VIII, chr. Xq28
Mutation: F8 deficiency of factor VIII, chr. Xq28
Hemophilia A
Hemophilia A - Symptoms
Spontaneous bleeds into joints, muscles or intracranial. excessive bruising, prolonged bleeding after injury, delayed wound healing
Phenylketonuria (PKU)
PAH mutation–> high levels of Phe because not converted to Tyr
PAH mutation–> high levels of Phe because not converted to Tyr
Phenylketonuria (PKU)
Phenylketonuria (PKU) - Symptoms
mycrocephaly and mental retardation, seizures, gait disorders, tremors
mycrocephaly and mental retardation, seizures, gait disorders, tremors
Phenylketonuria (PKU) - Symptoms
alpha1- Antitrypsin Deficiency (ATD)
Biological: SERPINA1 (serine protease inhibitor) targets elastase–> neutrophils in lung
Molecular: Z allele–> misfolded protein aggragated in liver, S allele–> unstable protein less effective
AR
Biological: SERPINA1 (serine protease inhibitor) targets elastase–> neutrophils in lung
Molecular: Z allele–> misfolded protein aggragated in liver, S allele–> unstable protein less effective
AR
alpha1- Antitrypsin Deficiency (ATD)
alpha1- Antitrypsin Deficiency (ATD) - Symptoms
increased risk of developing emphysema, late onset, increased risk of liver cirrhosis and liver cancer worse in smokers
increased risk of developing emphysema, late onset, increased risk of liver cirrhosis and liver cancer worse in smokers
alpha1- Antitrypsin Deficiency (ATD) - Symptoms
Tay-Sachs disease
lysosomal storage disorder, inability to degrade Gm2 ganglioside–> accumulation in neurons of CNS.
AR
lysosomal storage disorder, inability to degrade Gm2 ganglioside–> accumulation in neurons of CNS.
AR
Tay-Sachs disease
Tay-Sachs disease - Symptoms
infants appear normal until 3-6 months then get muscle weakness, decreased attentiveness, increase startle response. later get nurodegeneration–seizures, vison and hearing loss, diminished mental function, paralysis
infants appear normal until 3-6 months then get muscle weakness, decreased attentiveness, increase startle response. later get nurodegeneration–seizures, vison and hearing loss, diminished mental function, paralysis
Tay-Sachs disease - Symptoms
Sandhoff disease
Mutation: Mutation of HEXB (insertion)
Biological: Dysfunctional beta subunit –> build up of Gm2 ganglioside
AR
Mutation: Mutation of HEXB (insertion)
Biological: Dysfunctional beta subunit –> build up of Gm2 ganglioside
AR
Sandhoff disease
Sandhoff disease - Symptoms
Same syptoms as Tay-Sachs: muscle weakness, neurodegeneration (seizures, vision and hearing loss, diminishing mental function, “cherry-red spot” in the eyes.
muscle weakness, neurodegeneration (seizures, vision and hearing loss, diminishing mental function, “cherry-red spot” in the eyes.
Sandhoff disease - Symptoms
Familial Hypercholesterolemia
AD, Locus heterogeneity, Mutation: 3 genes LDLK (highest rate), APOB, PCSK9
AD, Locus heterogeneity, Mutation: 3 genes LDLK (highest rate), APOB, PCSK9
Familial Hypercholesterolemia
Familial Hypercholesterolemia - Symptoms
High cholesterol and LDL levels, Xanthomas (fat build up under skin), premature coronary artery disease and death
High cholesterol and LDL levels, Xanthomas (fat build up under skin), premature coronary artery disease and death
Familial Hypercholesterolemia - Symptoms
Autosomal Dominant Polycystic Kidney Disease
Mutation: PKD1 (chr 16p13.3) PKD2 (chr 4q22.1) polycystin 1 and 2 Truncated protein
AD
Mutation: PKD1 (chr 16p13.3) PKD2 (chr 4q22.1) polycystin 1 and 2 Truncated protein
AD
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease - Symptoms
Bilateral renal cysts cysts in other organs vascular abnormalities End stage renal disease 50% of 60yo
Bilateral renal cysts cysts in other organs vascular abnormalities End stage renal disease 50% of 60yo
Autosomal Dominant Polycystic Kidney Disease - Symptoms
Fabry Disease
x-linked
reduced sweating, heat stroke, progressive renal failure, risk of heart attacks and strokes, hypertrophy of cardiac tissue, neurologic pain crisis in children
reduced sweating, heat stroke, progressive renal failure, risk of heart attacks and strokes, hypertrophy of cardiac tissue, neurologic pain crisis in children
Fabry Disease
Fabry Disease-Treatment
Recombinant enzyme replacement therapy
helps with alpha-galactosidase deficiency
