Deficiency of _____ protein causes autoimmune polyendocrine syndrome-1
#2
What is the mode of inheritence of hereditary angioedema?_____
#3
_____ cardiomyopathy is associated with the trinucleotide repeat expansion disease Friedreich ataxia
#4
Male breast cancer is associated with _____ mutation and Klinefelter syndrome
#5
What HLA subtypes are associated with celiac disease? _____ and DQ8
#6
_____ disease may be treated with oral zinc or chelating agents (e.g. penicillamine, trientine)
#7
In the treatment of Cystic Fibrosis, the combination drug _____ is indicated for patients who have two copies of the F508del mutation in the CFTR gene
#8
_____ cardiomyopathy / polyneuropathies are characterized by deposition of mutated transthyretin (TTR) protein in the heart and nerves
#9
Patients with Refsum disease have _____ skin and shortening of the 4th toe
Genetic Basis of Developmental Disorders Indian Medical PG Flashcards - Medical Study Cards
Master Genetic Basis of Developmental Disorders with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Genetic Basis of Developmental Disorders Flashcard Deck - 9 Cards
Flashcard 1: Deficiency of _____ protein causes autoimmune polyendocrine syndrome-1
Answer: autoimmune regulator (AIRE)
Flashcard 2: What is the mode of inheritence of hereditary angioedema?_____
Answer: Autosomal dominant
Flashcard 3: _____ cardiomyopathy is associated with the trinucleotide repeat expansion disease Friedreich ataxia
Answer: Hypertrophic
Flashcard 4: Male breast cancer is associated with _____ mutation and Klinefelter syndrome
Answer: BRCA2
Flashcard 5: What HLA subtypes are associated with celiac disease? _____ and DQ8
Answer: DQ2
Flashcard 6: _____ disease may be treated with oral zinc or chelating agents (e.g. penicillamine, trientine)
Answer: Wilson
Flashcard 7: In the treatment of Cystic Fibrosis, the combination drug _____ is indicated for patients who have two copies of the F508del mutation in the CFTR gene
Answer: lumacaftor/ivacaftor
Flashcard 8: _____ cardiomyopathy / polyneuropathies are characterized by deposition of mutated transthyretin (TTR) protein in the heart and nerves
Answer: Familial amyloid
Flashcard 9: Patients with Refsum disease have _____ skin and shortening of the 4th toe
Answer: scaly
Keywords: Genetic Basis of Developmental Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
Want unlimited flashcards?
Get full access to all flashcards, spaced repetition, and progress tracking.
