Genetic Disorder (Autosomal) Flashcards
It is a disease that is caused by an abnormality in an individual’s DNA
Genetic Disorder
It carries genes that determine the somatic characteristics and do not have any influence on determining the sex of the individual.
Autosomes or Somatic Chromosomes
A pattern of inheritance in which an affected individual has ONE COPY of a mutant gene and one normal gene on a pair of autosomal chromosomes .
Autosomal Dominant
It has TWO COPIES of an abnormal gene that must be present in order for the disease or trait to develop.
Autosomal Recessive
It has short limbs relative to the trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs.
Achondroplasia
What is the gene defect of Achondroplasia (Autosomal Dominant) ?
Fibroblast Growth Factor Receptor 3 (FGR3)
It impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease and stroke.
Hypercholesterolemia
What is the gene defect of Hypercholesterolemia (Autosomal Dominant) ?
LDL Receptor
Its malformation of the brain dysmorphophobia facial features, and mental retardation.
Holoproencephaly
What is the gene defect of Holoproencephaly (Autosomal Dominant) ?
Sonic Hedgehog
It has a disorder that is characterized by progressive motor, cognitive, and psychiatric abnormalities.
Chorea - no repetitive involuntary
Jerks - is observed in 90% of patients
Huntington Disease
What is the gene defect of Huntington Disease (Autosomal Dominant) ?
Huntingtin (HD) | CAG repeat expansion within exon 1
It has abnormalities of the skeleton, heart, pulmonary system, skin, and joints. A frequent cause of death is congestive heart failure.
Marfan Syndrome
What is the gene defect of Marfan Syndrome (Autosomal Dominant) ?
Fibrilin-1 gene (FBN1)
It has disorder shows anticipation of muscle weakness, cardiac arrhythmia, cataracts, and testicular atrophy in males. Children born in congenital form have a characteristic open triangle-shaped mouth.
Myotonic Dystrophy
What is the gene defect of Myotonic Dystrophy (Autosomal Dominant) ?
A protein kinase gene (DMPK) | CTG repeats expansion in 3’ untranslated region of the gene
It has disorder that is characterized by numerous benign tumors of the peripheral nervous system, but a minority of patients also show increased incidents of malignancy.
Neurofibromatosis I
What is the gene defect of Neurofibromatosis I (Autosomal Dominant) ?
NF1 gene | Micro deletion at 17q 11.2
It has null mutation to produce a milder form of the disease. Missense mutations that act in a dominant negative manner are often perinatal lethal. The disorders are associated with deformed, undermineralized bones that are subject to frequent fracture.
Osteogenesis Imperfecta
What is the gene defect of Osteogenesis Imperfecta (Autosomal Dominant) ?
A1 or A2 chain of type I collagen
It has heterozygous individuals who are predisposed to kidney disease. Multiple renal cysts, blood in urine, end-stage renal disease, and kidney failure.
Polycystic Kidney Disease
What is the gene defect of Polycystic Kidney Disease (Autosomal Dominant) ?
Polycystic 1 (PKD1) or Polycystic 2 (PKD2) gene
It has pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick mucus, and lung infection.
Cystic Fibrosis
What is the gene defect of Cystic Fibrosis (Autosomal Recessive) ?
Cystic Fibrosis Transmembrane Regulator (CFTR) | Impaired chloride ion channel function
It has lysosomal storage disease characterized by splenomegaly, hepatomegaly, and bone marrow infiltration.
Gaucher’s Disease
What is the gene defect of Gaucher’s Disease (Autosomal Recessive) ?
B-Glucosidase
It has absorption of dietary iron with accumulation of abnormal, pigmented, iron-protein aggregates in the visceral organ.
Hemochromatosis
What is the gene defect of Hemochromatosis (Autosomal Recessive) ?
HFE gene | C282Y mutation
It has mental retardation, if untreated, possibly due to inhibition of myelination and disruption of neurotransmitter synthesis. Detectable by newborn screening and treatable.
Phenylketonuria
What is the gene defect of Phenylketonuria (Autosomal Recessive) ?
Phenylalanine Hydroxylase (PAH)
It has hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a cherry red spot on the retina.
Tay-Sachs Disease
What does the gene detect of Tay-Sachs Disease (Autosomal Recessive) ?
B-Hexosaminidase A isoenzyme (HEXA)
It has acute photosensitivity, premature skin aging, premalignant actinic keratoses, and benign malignant neoplasms of the skin.
Xeroderma Pigmentosum
What is the gene defect of Xeroderma Pigmentosum (Autosomal Recessive) ?
Nucleotide Excision Repair (Locus Heterogeneity)
List some disorder/disease that are commonly AUTOSOMAL DOMINANT.
• Achondroplasia
• Hypercholesterolemia
• Holoproencephaly
• Huntington’s Disease
• Marfan Syndrome
• Myotonic Dystrophy
• Neurofibromatosis I
• Osteogenesis Imperfecta
• Polycystic Kidney Disease
List some disorder/disease that are commonly AUTOSOMAL RECESSIVE.
• Cystic Fibrosis
• Gaucher’s Disease
• Hemochromatosis
• Phenylketonuria
• Tay Sachs Disease
• Xeroderma Pigmentosum
