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What gene is affected in Familial Hypercholesterolemia?
What is the main symptom of Huntington Disease?
What causes Myotonic Dystrophy?
What is a feature of Marfan Syndrome?
What characterizes Osteogenesis Imperfecta?
What is the gene affected in Achondroplasia?
What are symptoms of Neurofibromatosis Type 1?
What symptoms are associated with Acute Intermittent Porphyria?
What is the gene affected in Duchenne Muscular Dystrophy?
What is the main symptom of Sickle Cell Disease?
What is the effect of the CFTR gene in Cystic Fibrosis?
What is a key feature of hemophilia A?
What does color blindness affect?
What is the molecular mechanism of X-linked hypophosphatemic rickets?
What is depicted in this image?
What is the cause of PKU?
What are the symptoms of Tay-Sachs Disease?
What causes Galactosemia?
What is the main symptom of Alkaptonuria?
What are the effects of HFE deficiency?
What is the treatment for SCID?
What is the impact of Alpha-1 Antitrypsin Deficiency?
What are the symptoms of Homocystinuria?
What is the genetic basis of Thalassemia?
What are the common symptoms of Alpha-1 Antitrypsin Deficiency?
What does the table of dominant diseases show?
What does the table of X-linked recessive diseases show?
What does the table of autosomal disorders show?
Flashcards in this deck (28)
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What gene is affected in Familial Hypercholesterolemia?
LDLR (also APOB, PCSK9 in some cases)
genetics disorders -
What is the main symptom of Huntington Disease?
Neurodegeneration, chorea, rigidity, dementia
genetics disorders -
What causes Myotonic Dystrophy?
DMPK gene; triplet repeat expansion causing abnormal splicing
genetics disorders -
What is a feature of Marfan Syndrome?
Tall stature, long limbs, lens dislocation, aortic aneurysm/dissection
genetics disorders -
What characterizes Osteogenesis Imperfecta?
Brittle bones, frequent fractures, blue sclera
genetics disorders -
What is the gene affected in Achondroplasia?
FGFR3 (fibroblast growth factor receptor 3)
genetics disorders -
What are symptoms of Neurofibromatosis Type 1?
Café-au-lait spots, neurofibromas, Lisch nodules
genetics disorders -
What symptoms are associated with Acute Intermittent Porphyria?
Episodic abdominal pain, psychiatric symptoms, red-purple urine
genetics disorders -
What is the gene affected in Duchenne Muscular Dystrophy?
DMD (dystrophin gene)
genetics disorders -
What is the main symptom of Sickle Cell Disease?
Vaso-occlusive crises, anemia, pain
genetics disorders -
What is the effect of the CFTR gene in Cystic Fibrosis?
Defective chloride channel leading to thickened mucus
genetics disorders -
What is a key feature of hemophilia A?
Prolonged bleeding due to factor VIII deficiency
genetics disorders -
What does color blindness affect?
Red-green color perception due to mutations in photopigments
genetics disorders -
What is the molecular mechanism of X-linked hypophosphatemic rickets?
Impaired phosphate handling, low serum phosphate
genetics disorders -
What is depicted in this image?
A table describing dominant diseases including Rett syndrome and hypophosphatemic rickets.
genetics disorders -
What is the cause of PKU?
Deficiency of phenylalanine hydroxylase (PAH) leading to toxic buildup of phenylalanine, causing intellectual disability if untreated.
genetics disorders -
What are the symptoms of Tay-Sachs Disease?
- Cherry-red macula
- Developmental delay
- Death in childhood
genetics disorders -
What causes Galactosemia?
Inability to metabolize galactose due to deficiency of galactose-uridyltransferase, leading to toxic buildup.
genetics disorders -
What is the main symptom of Alkaptonuria?
Dark urine on standing due to homogentisic acid buildup from tyrosine metabolism defect.
genetics disorders -
What are the effects of HFE deficiency?
- Iron overload
- Liver cirrhosis
- Diabetes
- Bronze skin
genetics disorders -
What is the treatment for SCID?
Bone marrow transplantation (BMT) or gene therapy (GT) to manage severe recurrent infections.
genetics disorders -
What is the impact of Alpha-1 Antitrypsin Deficiency?
Loss of protease inhibitor leading to lung damage and early-onset emphysema in adults.
genetics disorders -
What are the symptoms of Homocystinuria?
- Marfanoid habitus
- Lens dislocation
- Intellectual disability
genetics disorders -
What is the genetic basis of Thalassemia?
Reduced or absent globin chains (HBA1/HBA2 or HBB) causing microcytic anemia.
genetics disorders -
What are the common symptoms of Alpha-1 Antitrypsin Deficiency?
- Lung damage
- Neonatal hepatitis
- Liver failure in children
genetics disorders -
What does the table of dominant diseases show?
Includes diseases like Rett syndrome, hypophosphatemic rickets, and incontinentia pigmenti.
genetics tables -
What does the table of X-linked recessive diseases show?
Includes diseases like Duchenne muscular dystrophy, hemophilia A, and red-green colorblindness.
genetics tables -
What does the table of autosomal disorders show?
Includes disorders like familial hypercholesterolemia, cystic fibrosis, and sickle cell disease.
genetics tables