Term
| most common cause of Familial Hypertrophic Cardiomyopathy (what does this protein do?) |
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Definition
| B-Myosin heavy chain mutation (part of myosin motor unit) |
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Term
| 2nd, 3rd most common cause of FHCM? |
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Definition
2nd cardiac troponin (anchor troponin to tropomyosin)
3rd cardiac myosin-binding protein (anchor myosin to titin) |
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Term
| mutated gene in achondroplasia? function of gene? mutated gene affect? |
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Definition
| FGFR3 98% G to A (growth absent) - negatively regulates bone growth. Mutation constitutively activate it. |
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Term
inheritance of achondroplasia
new mutation %. when die inutero |
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Definition
| auto dominant. 80%. homozygous |
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Term
| Thanatophoric Dysplasia. Lethal? phenotype? |
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Definition
| yes, lethal, born with extremely short limbs. |
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Term
| Osteogenesis Imperfecta mode of inheritance? |
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Definition
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Term
| Osteogenesis Imperfecta Type 1 |
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Definition
| blue sclera. mutations in aa's other than glycine. normal stature, lil deformity. |
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Term
| Osteogenesis Imperfecta type 2. what substitution? |
|
Definition
| lethal, Type II OI - Gly substitution |
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|
Term
| Osteogenesis Imperfecta - what part of gene mutation = most severe? |
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Definition
1. Glycine (allow collagen to pack close together)
2. C Terminus (start of collagen wrapping)
3. mutation in alpha1 gene (twice level of expression than beta) |
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Term
| EDS (Ehlers Danlos), type 1 phenotype? |
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Definition
| cigarette scars, large joint hypermobility, skin hyperextensibility. |
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Term
| EDS (Ehlers Danlos) - most lethal? why? phenotype? |
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Definition
type IV - rupture of arteries, colon, gravid uterus.
no hyperflexiblity, translucent skin. |
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Term
| EDS (Ehlers Danlos) type I & IV inheritance mode? |
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Definition
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Term
| EDS (Ehlers Danlos) type VI. inheritance. what gene? phenotype? |
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Definition
| auto recessive. lysyl hydroxylase gene. hyperextensibile skin, joint hypermobile, blind, bleending in eye. |
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Term
| EDS (Ehlers Danlos) type VII. inheritance? what gene? function of that gene? |
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Definition
| auto recessive. cleavage site for N-protease mutated thus can't convert pro-collagen to collagen. |
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Term
| Marfan Syndrome, 3 distinctions? |
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Definition
| Arachnodactyle, ectopic lentis, aortic aneurysm. |
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Term
| Marfan Syndrome inheritance? what 2 cardiovascular problems? |
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Definition
| auto dominant. aortic aneurism & mitral prolapse. |
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Term
| Marfan Syndrome, what mutation? |
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Definition
| FBN1 gene. cystine substitution. Fibrillin also involved. |
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|
Term
| Marfan Syndrome, phenotype |
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Definition
| tall stature, long extremities, pectus excavatum. |
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Term
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Definition
| abnormally low levels of phosphate in blood - get softening of bones |
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Term
|
Definition
| abnormally low levels of phosphate in blood - get softening of bones |
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|
Term
| Hypophosphatemia, 3 proteins involved? interaction? |
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Definition
NPT2 - sodium-phosphorus cotransporter.
PHEX - protease that inactivates inhibitor of NPT2 synthesis.
FGF23 - inhibits synth of NPT2 |
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Term
| X-linked Hypophosphatemia |
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Definition
| mutated PHEX - doesn't inactivate PTN thus NPT2 synth downregulated. |
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Term
| Auto Dominant Hypophosphatemia |
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Definition
| gain of function in FGF23 - inhibit synth of renal enzyme producing vitamin D & inhibit synth of NPT2. |
|
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Term
| heridetary Hypophosphatemia rickets |
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Definition
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Term
| Hemochromatosis, inheritance? |
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Definition
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|
Term
| Hemochromatosis, lab result? |
|
Definition
| high transferrin saturation, high serum ferritin levels |
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Term
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Definition
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Term
| Hemochromatosis, what two proteins controlled by HFE. what does HFE do? |
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Definition
| DMT 1 iron transporter & ferroportin (iron exporter). HFE senses how much iron is in blood. |
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Term
| Hemochromatosis - what gene mostly mutated? |
|
Definition
| C282Y (cystine replaced w tyrosine) incorrect folding - protein degraded - no HFE. |
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Term
| spherocytosis mutation? Rx? elliptocytosis mutation? |
|
Definition
| ankyrin, splenectomy, spectrin |
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Term
| spherocytosis hereditary pattern, clinical symptoms, which cell type affected |
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Definition
| auto dominant, anemia jaundice splenomegaly, RBC affected (shape) |
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|
Term
| Elliptocytosis - which gene is defective? consequence? |
|
Definition
| Beta heterodimer (can't form tetramers) |
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Term
| Epidermolysis Bullosa Simplex. Which protein affected? hereditary pattern? prevelance? phenotype? |
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Definition
| Keratin mutation, auto dominant, most common, mild blisters & weber-cockayne subtype & palmoplantar blistering |
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|
Term
| Epidermolysis Bullosa Junctional: mutation? phenotype? |
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Definition
| laminin-5 mutation, elbows & knees blister. |
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|
Term
| Dominant Epidermolysis Bullosa: mutation? phenotype? |
|
Definition
| Type VII collagen mutated. arms & legs affected mostly. |
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|
Term
| Recessive Epidermolysis Bullosa: mutation? phenotype? |
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Definition
| Collagen type VII, repeated blistering & scarring of hands & feet, fingers & toes fuse, Squamous cell carcinomas, malignant melanoma, oral cavity blisters. |
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|
Term
| Polycystic Kidney Disease, what genes mutated? which one more prevalent? |
|
Definition
| PKD1 & 2 encoding polycystin 1 & 2. Type 1 is more prevalent. |
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Term
| Tuberous Sclerosis: what two genes/proteins prevent this disease? How? What oncogenic category are these genes in. |
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Definition
| TSC1 & 2 - they activate Hamartin/Tuberin Complex which inhibit rapid cell growth. They are "Tumor Suppressor Genes" |
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