Flashcards in Autosomal Dominant Diseases Deck (40):
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Autosomal dominant disease are often
PLEIOTROPIC
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Autosomal dominant polycystic kidney disease is also known as
Adult polycystic kidney disease
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Autosomal dominant polycystic kidney disease is due to
1. PKD1 on ch 16 (85%)
2. PKD2 on ch 4 (15%)
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Autosomal dominant polycystic kidney disease is bilateral or unilateral / morphology
Always bilateral
Massive enlargement of kidneys due to multiple large cysts
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Familial adenomatous polyposis(FAP) morphology
Colon becomes covered with adenomatous polyps after puberty
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Familial adenomatous polyposis age of appearance
After puberty
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Familial adenomatous polyposis is due to
APC gene (ch5) mutation
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Chromosome of APC
5
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Familial hypercholesterolemia pathophysiology
Elevated LDL due to defective or absent LDL receptor
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Familial hypercholesterolemia leads to:
1. Severe atherosclerotic disease early in life
2. Tendon xanthomas (classically in the Achilles tendon)
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Hereditary spherocytosis is due to
Spectrin or ankyrin defect
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Hereditary hemorrhagic telengiectasia is also known as
Olser - Weber - Rednu
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Hereditary spherocytosis main finding
Hemolytic anemia with increased MCHC and increased RDW
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What is hereditary hemorrhagic telangiectasia
Inherited (AD) disorder of blood vessels
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Tuberous sclerosis
Neurocutaneous disorder with multi-organ system involvement, characterized by numerous bening HAMARTOMAS
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Finding of hereditary hemorrhagic telangiectasia
1. branching skin lesions (Telangiectasia) 2. Recurrent epistaxis 3. Skin discoloration 4. Arteriovenous malformations 5. GI bleeding 6. Hematuria
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Tuberous sclerosis phenotype expression features
Incomplete penetrance and variable expression
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Von hippel-lindau is characterized by development of
Numerous tumors (both benign and malignant)
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Von Hippel-Lindau disease pathophysiology (genes)
Deletion of VHL gene (tumor suppressor - ch 3)
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Huntington symptoms / morphology
1. Depression
2. Progressive dementia
3. Choreiform movments
4. aggression
morphology: caudate atrophy
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NF2 findings
1. Bilateral acoustic schwannomas
2. Juvenile cataracts
3. Meningiomas
4. Ependymomas
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Huntington lab findings
Low levels of GABA and ACH
high levels of dopamine
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NF2 chromosome
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NF1 - AKA
Von Recklinghausen disease
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Neurofibromatosis type 1 (von Recklinghausen disease) inheritance features
100% penetrance
Variable expression
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Neurofibromatosis type 1 (von Recklinghausen disease) - presentation
1. cafe-au-lait spots
2. cutaneous neurofibromas
3. optic glioma
4. pheochromocytomas
5. Lisch nodules (pigmented iris hamartomas)
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Neurofibromatosis type 1 (von Recklinghausen disease) is caused by
Mutations in NF1 gene in ch 17
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Marfan syndrome - comective tissue disorder affecting:
Skeleton, heart, eyes
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Cardiovascular/ marfan
1. Floppy mitral valve
2. Dissecting aortic aneurysm (cystic medial necrosis of aorta)
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Marfnan pathophysiology
Fibrillin 1 gene mutation (FBN1) ON CHROMOSOME 15 --> defective fibrillin (scaffold for elastin) --> connective tissue disorder
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Marfan eyes
Subluxation of lenses, typically upward and temporally
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Marfan skeleton
1. Tall with long extremities
2. Pectus excavactum
3. Hypermobile joints
4. Long tapering fingers and toes (arachnodactyly)
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APC ch
5
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NF1 ch
17
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NF2 ch
22
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VHL ch
3
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Huntington chromosome
Repeated trinucleotide disorder
4 CAG
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Marfan gene and chromosome
FBN1 gene on ch15
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Li-Fraumeni syndrome - mechanism
Abnormalities in TP53 --> multiple malignanciesin TP53
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