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15 Cards in this Set
- Front
- Back
Familial Juvenile Nephronophthisis (NPHP1)
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Sx: chronic renal failure
Autosomal recessive mutation/deletion NPHP1 flanked by inverted LCRs |
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Williams-Bueren Syndrome
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LCR7
Commonly a 1.6 Mb deletion Flanking cen, mid, tel LCR structures |
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Prader-Willi Syndrome (PWS)
Angelman Syndrome (AS) |
LCR15s
Four clusters of LCRs termed BP1-BP4 |
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CMT1A-REPs
Smit-Magenis Syndrome-REPs Neurofibromatosis type 1-REPs |
LCR17s
Three large LCR clusters (proximal, middle, and distal) |
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DiGeorge Syndrome
Velocardiofacial Syndrome |
LCR22s
Common 3 Mb deletions Unusual 1.5 Mb deletions |
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Charcot-Marie-Tooth disease type 1A (CMT1A)
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Heterozygous duplication of PMP22 gene encoding peripheral myelin protein
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Hereditary neuropathy with liability to pressure palsies (HNPP)
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Heterozygous deletion of PMP22 gene encoding peripheral myelin protein
Rarely a loss of function point mutation in PMP22 |
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Congenital Dyskeratosis
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Mutations in hTR, dyskerin, Nhp2, Nop10, all related to telomerase activity.
Cause bone marrow failure, premature aging, abnormal pigmentation, hypogonadism, and more. |
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Phenylketonuria (PKU)
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Mut: Phenylalanine hydroxylase (AR)
Prev: 1:15,000 Probs: High F and metabolites, musty urine, low Y -> CNS, catecholamine, melanin problems Rx: Low F intake, Y becomes essential aa |
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Dihydrobiopterin reductase & BH4 synthesis enzyme defficiencies
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BH2->BH4
Requisite in F -> Y and W -> 5-OH-W Probs: high F & metabolites; low catecholamines, serotonin, melanin Rx: Restrict F; Supplement BH4, DOPA, 5-OH-Tryptophan |
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Maple Syrup Urine Disease
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Mut: branched-chain a-keto acid dehydrogenase (AR)
Prev: 1:185,000 Probs: cognitive, feeding, emesis, dehydration, metabolic acidosis Rx: Limit L, I, V aa's |
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Albinism
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Mut: tyrosine metabolism (AR, AD, X-linked)
Probs: low melanin, vision sensitivity, predisposed to skin cancer |
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Homocystinuria
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Mut: homocysteine metabolism (AR)
Prev: 1:200,000 Probs: High homocysteine & M; low C; ectopia lentis, skeletal abnormalities, osteoporosis, arterial disease, mental retardation Rx: Vitamin B6 response in some; low M intake |
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Cystinuria
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Mut: transporters for cystine, basic, and positive aas in kidney (AR)
Prev: 1:7000 Probs: cystine stones in kidneys and urinary tract |
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Alcaptonuria
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Mut: homogentisic acid oxidase (AR)
Prev: 1:200,000 Probs: high homogentisic acid in urine (oxidises black), arthritis, black pigmentation of cartilage, Sx arise ~40y/o Rx: low protein, low F & Y |