Genetic disorders Flashcards
1
Q
ADPKD
A
- -Autosomal dominant
- -Bilateral enlargement of kidneys due to multiple cysts
- -Mutation of APKD1 on chromosome 16
- -Associated with berry aneurysms
- -Flank pain, hematuria, HTN, progressive renal failure
2
Q
Achondroplasia
A
- -Autosomal dominant
- -Defect of fibroblast growth factor receptor #3
- -Associated with advanced paternal age
3
Q
Familial Adenomatous Polyposis
A
- -Autosomal dominant
- -High risk of colon cancer
- -Mutation in APC gene
4
Q
Gardner Syndrome
A
- -Autosomal dominant
- -Osteomas
- -Lipomas
- -Sebaceous cysts
- -Colon polyps
- -Colon cancer
5
Q
Familial hypercholesterolemia
A
- -Autosomal dominant
- -Type IIA hyperlipidemia
- -Markedly elevated LDL
- -Xanthomas, xanthelasmas, early MI
6
Q
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
A
- -Autosomal dominant
- -Telangiectasias, recurrent epistaxis, skin discoloration, Arteriovenous malformations, GI tract bleeding
7
Q
Hereditary sperocytosis
A
- -Autosomal dominant
- -Spheroid erythrocytes
- -Defect of spectrin or ankyrin (provide structural framework of RBC)
- -Hemolysis leading to anemia and jaundice, increased MCHC
- -Positive osmotic fragility test
- -Increased viscosity of blood
8
Q
Huntington disease
A
- -Autosomal dominant
- -CAG repeats
- -Decreased GABA and Ach in brain
- -Cognitive decline, caudate atrophy, chorea, chromosome 4, average age 40
9
Q
Marfan syndrome
A
- -Autosomal dominant
- -Fibrillin gene mutation
- -Pectus excavatum, hyper-extensibile joints, long fingers and toes
- -Cystic medial necrosis of aorta, aortic valve regurgitation, aortic aneurysm, aortic dissection, mitral valve prolapse
- -Subluxation of lenses
10
Q
Multiple Endocrine Neoplasia
A
- -Autosomal dominant
- -MEN1 associated with MEN1 gene
- -MEN2A and 2B associated with RET gene mutation
- -MEN1: Parathyroid adenoma, pituitary adenoma, pancreatic tumors
- -MEN2A: Parathyroid adenoma, pheochromocytoma, medullary thyroid cancer
- -MEN2B: Pheochromocytoma, medullary thyroid cancer, mucosal neuromas
11
Q
Neurofibromatosis type 1
A
- -Autosomal dominant
- -Mutation of a gene on chromosome 17
- -Cafe-au-lait spots, neural tumors, Lisch nodules, scoliosis
12
Q
Neurofibromatosis type II
A
- -Autosomal dominant
- -Bilateral acoustic neuroma (CN VIII)
- -Hearing loss, tinnitus, balance problem
- -Mutation on chromosome 22
13
Q
Tuberous Sclerosis
A
- -Autosomal dominant
- -Mutation of hamartin or tuberin gene
- -Non-malignant tumors in the brain and other organs
- -Facial lesions, hypopigmented ash-leaf spots, cortical and retinal hamartomas
- -Seizures
- -Intellectual disability
- -Cardiac rhabdomyomas and astrocytomas
14
Q
von-Hippel-Lindau disease
A
- -Autosomal dominant
- -Hemangioblastomas of the retina, cerebellum, and medulla
- -50% develop bilateral renal cell carcinoma
- -Pheochromocytomas
- -Deletion of VHL gene on chromosome 3–> activation of angiogenic growth factors
15
Q
Li-Fraumeni syndrome
A
- -Autosomal dominant
- -Mutation in TP53–> multiple malignancies at early age.
16
Q
Fragile X syndrome
A
- -X-linked disorder, trinucleotide repeat disorder
- -Mutation with FMR1 gene which codes FMRP
- -Intellectual disability, macro-orchidism, long face, large jaw, everted ears, mitral valve prolapse
- -CGG repeat
17
Q
Trinucleotide repeat disorders
A
- -Fragile X syndrome (CGG)
- -Friedreich ataxia (GAA)
- -Huntington disease (CAG)
- -Myotonic dystrophy (CTC)
18
Q
Friedreich ataxia
A
- -Autosomal recessive, trinucleotide repeat disorder
- -Mutation of gene that codes for frataxin
- -Degeneration of sensory neurons, hypertrophic cardiomyopathy, diabetes mellitus
- -Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, and hammertoes
- Presents with childhood with kyphoscoliosis
- -Degeneration of spinocerebellar tracts, posterior columns, dorsal root ganglia
19
Q
Myotonic Dystrophy type 1
A
- -Autosomal dominant
- -CTG trinucleotide repeat expansion in the DMPK gene–> abnormal expression of myotonin protein kinase–> myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia.
20
Q
Cystic fibrosis
A
- -Autosomal recessive
- -CFTR gene on chromosome 7 mutation
- -Thick mucus (because Cl- not moving properly and Na+ can’t and can’t follow)
- -Recurrent pulmonary infections, bronchiectasis, pancreatic insufficiency, meconium ileus, infertility in males, fat soluble vitamin deficiencies, salty taste
- -Diagnose with sweat chloride test
- -Rx: N-acytylcysteine, antibiotics, pancreatic enzymes, fat soluble vitamins
21
Q
X-linked recessive disorders
A
- -Ocular albinism
- -Fabry disease
- -Wiscott-Aldrich
- -G6PD deficiency
- -Hunter Syndrome
- -Bruton agammaglobulinemia
- -Hemophilia A/B
- -Lesch-Nyhan Syndrome
- -Duchenne muscular dystrophy
