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38 Cards in this Set
- Front
- Back
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What are the gene; functions of the gene product, and inheritance of Marfan Syndrome?
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FIB2 - microfibrils in elastin
Autosomal dominant |
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Gaucher's disease
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Glucocerebrosidase deficiency
Hepatosplenomegaly, osteoporosis, neurological symptoms |
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What are the genetics, enzyme deficiency and substrate accumulation of Fabry's disease?
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X-linked recessive
a-galactosidase A deficiency Ceramide tribexoside accumulation |
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What are the clinical features of Fabry's disease?
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Peripheral neuropathy of hands/feet
Angiokeratomas Cardiovascular/renal disease Decreased sweating (heat intolerant) |
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Hurler syndrome
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a-L-iduronidase deficiency
Accumulation of demenen sulfate and heparan sulfate Gargoylism, retardation, Corneal clouding, hepatosplenomegaly, Death from MI Cells with clear, PAS positive cytoplasm |
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What are the features of Edwards syndrome?
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Trisomy 18
Micrognathia Overlapping index finger Lower ears Congenital heart defects Rocker-bottom feet Horseshoe kidney |
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Patau syndrome
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Trisomy 13
6 finger/toes Cleft lip and cleft palate Microcephalus - cyclopea in some Congenital heart disease Renal defects Umbilical hernia Rocker bottom feet |
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DiGeorge syndrome
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22q11.2 Deletion
Heat defects Cleft lip Facial dysmorphism Developmental delays Thymic hypoplasia Hypoparathyroidsm Psychiatric Disorders - ADD, Bipolar, Schizophrenia |
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Velocardiofacial syndrome
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80% of cases demonstrate del 22q11
Facial dysmorphism:prominent Nose, retrgnathia Cardiac malformations |
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What are some causes of Band Keratopathy?
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Deposition of calcium in Bowman's capsule
Hypercalcemia Juvenile Rheumatoid Arthritis UV light damage; forms yellow bands |
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What are some causes of keratoconus?
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Down syndrome
Marfan syndrome Idiopathic thinning of cornea Tx: Rigid contact lenses Corneal transplant |
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What is the gene that is mutated in Familial Dysplastic Nevus syndrome
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CDKN2A gene complex or CDK4
Autosomal dominant with 50% penetrance |
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Lentigo Maligna
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Hutchinson's freckle
Precursor to lentigo maligna melanoma Occurs in sun-exposed areas Remains in situ for years Atypical melanocytes at the epidermal dermal junction |
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What are the causes of SIADH?
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Paraneoplastic - small cell carcinoma of the lung
Lung diseases - TB, Pneumonia Drugs Injury to the brain - infection, or hemorrhage |
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What are the neoplasms associated with MEN-1?
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Parathyroid - hypercalcemia
Pancreatic - ZE, VIPoma, Insulinoma, somatostatinoma Pituitary - Prolactinoma |
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What are the cancers associated with MEN-2a
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Pheochromocytoma
Parathyroid Medullary Thyroid Carcinoma |
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What are the cancers associated with MEN-2b?
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Pheochromocytoma
Medullary Thyroid Carcinoma Marfanoid habitus - Oral and GI ganglioneuromatosis |
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What are 3 major Missence mutation that are Non-conservative
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Factor V leiden mutation
Alpha 1-antitrypsin deficiency Sickle cell anemia - point mutation |
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B thalassemia has what kind of mutation?
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Non-sense - stop codon due to point mutation
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What example diseases are associated with mutations within noncoding sequences? What are the characteristics of these diseases?
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Prothrombin mutation - hypercoagulability
Hereditary Spherocytosis - Defect in splicing of intervening sequences |
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What are three major mutations associated with Frame-shift mutations?
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Type O blood
Cystic Fibrosis Tay-Sachs disease |
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What are the disease associated with Trinucleotide repeat mutations?
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Huntington's - CAG
Fragile X syndrome - CGG/ FMR1 gene Myotonic dystrophy Friedrich ataxia |
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What is Dominant negative and what is an example?
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Where a mutant allele impairs the function of a normal allele.
Osteogenesis imperfecta |
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Type IV of Ehlers-Danlos is associated with what type of collagen?
Types 1 & 2 are associated with what type of collagen? |
Type IV = Vascular - Type III collagen
Type I, II = Skin and joint - Type V collagen |
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What is the main difference in physical findings between Niemann-Pick disease and Tay-Sachs disease?
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Niemann-Pick has hepatosplenomegaly (sphingomyelin accumultion)
Both: Neurodegeneration, Red spot macula, Tay-Sachs - Lysosomes with ONION skin (lamellar bodies) |
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What are the defining characteristics of Gaucher Disease?
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AR
Gluvocerebrosidase deficiency Swollen phagoctic cells (gaucher cell) - Crumbled paper; PAS positive Aseptic Femoral necrosis - Erlenmeyer flaks deformity Pancytopenia Splenomegaly |
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What are the clinical findings of Fabry's disease?
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Peripheral neuropathy of hands and feet. Decreased sweating
Angiokeratomas - telangectasias Cardiovascular/Renal disease a-galactosidase A deficiency Ceramide accumulation |
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What are the key characteristics of Hurler's syndrome?
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Gargoylism
Eye opacities Airway obstruction Short stature A-L-iduronidase deficiency Accumulation of Dermaten and Heparan Sulfate |
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What are the key characteristics of Hunter's syndrome?
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Lesser form of Hurler's syndrome
XR L-iduronate sulfatase deficiency Accumulation of heparan sulfate and dermatan sulfate No corneal clouding, males only. |
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What are the clinical features of Von Gierke's disease?
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Hypoglycemia
Hyperuricemia Xanthomas Bleeding from platelet dysfunction Hepatic/renal enlargement |
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What organs are affected with Cori's disease?
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Debranching ezyme deficiency
Heart Liver - hepatomegaly Muscle Hypoglycemia |
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What are the clinical features of Alkaptonuria?
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Ochronosis- blue black pigmentation of cartilage
Crippling arthritis Urine turns black on exposure to light |
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What are the skeletal abnormalities associated with Neurofibromatosis type I?
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Bone erosions from adjacent tumors
Scoliosis Bone cysts Pseudoarthrosis of the tibia - extra joint |
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What kind of autoimmune diseases are pts with Turner syndrome predisposed for?
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Thyroiditis
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What are the two mitochondral gene mutations?
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Leber hereditary optic neuropathy -cardiac conduction defects; oxidative defects
MELAS - Mitochondrial Encephalopathy, lactic acidosis, stroke-like episodes |
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What types of diseases can cause uveitis?
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Inflammation of the uveal tract
Jvuvenile Rheumatoid Arthritis Granulomatous inflammation - sarcoidosis - Sympathetic ophthalmitis - Infectious agent: TB, Fungus |
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What are the eye lesions associatd with Sarcoidosis?
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Granulomatous Uveitis
Calcific Band Keratopathy Mutton fat keratitic precipitates Retina: Candle Wax Drippings -Inflammation |
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What are Mallory bodies?
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Eosinophilic inclusion bodies in hepatocytes due to alcoholic cirrhosis
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