Term
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Definition
5p-
Severe mental retardation, microcephaly & catlike cry |
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Term
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Definition
Trisomy 21 or translocation
Mental retardation, epicanthal folds, simean crease, congenital HD, Alz in old pts, flat facial profile.
Decreased alpha-FP, increased HCG
Usu. due to meiotic non-disjunctin in mom |
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Term
| DiGeorge/Velocardiofacial Syndrome |
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Definition
CATCH-22
Cardiac abnormalities, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia (lack of PTH glands)
-Due to microdeletion on Ch 22 |
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Term
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Definition
Trisomy 18 ("election age")
Mental retardation, rocker bottom feet, micrognatia (small lower jaw), congenital HD |
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Term
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Definition
Trisomy 13 ("puberty age")
Mental retardation, microcephaly, micropthalmia, congenital HD, RB feet, polydactly... |
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Term
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Definition
XXY (at least 2X & one or more Y)
Always male phenotype w/atrohic testes, tall stature, gynecomastia
Decreased T prod, increased gonatropins
No mental retardation |
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Term
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Definition
Violent behavior
Tall, severe acne, mild mental retardation |
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Term
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Definition
XO (no Barr bodies), common cause of primary amennorhea
Decreased estrogen (ovaries are fibrotic), increased gonadotropins)
Short stature, webbed next, no breast dev, ass w/coarctation of aorta + other |
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Term
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Definition
| Usu no clinical abnormalities, maybe menstural irreularities or mental retardation |
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Term
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Definition
Most common cause of hereditary retardation, triple repeat disorder & X-linked
Both males and females can be carriers
Male w/full mutation=mental retardation, macro-orchism
Females w/full mutation=50% retardation (X inactivation?) |
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Term
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Definition
Triple repeat disorder, AD
Weakness w/mytonia, cataracts & test atrophy |
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Term
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Definition
AD, triple repeat disorder
Presents 30-50yo w/depression, progressive dementia, choreiform movements, caudate atrophy, decreased GABA & Ach in brain
On Chrom 4 |
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Term
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Definition
-Ex of genomic imprinting, paternal transmissionof del(15)(q11q13)
-Hypogonadism, hypotonia, mental retardation, behavior probs, uncontrollable appetite --> obesity, diabetes |
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Term
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Definition
-Ex of genomic imprinting, maternal transmission of del(15)(q11q13)
-"Happy puppet" mental retardation, ataxia, seizures, inappropriate laughter |
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Term
| Adult polycystic kidney disease |
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Definition
-AD, numerous bilateral kidney cysts
-Manifest b/w 30-50 yo |
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Term
| Familial Hypercholesterolimia |
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Definition
-AD defect in receptor for LDL chol R --> decreased chol transport into cells --> hypercholesterolemia --> athlerosclerosis
-Xanthomas present |
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Term
| Hereditary Hemorrhagic Telangiectasia |
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Definition
Aka Osler-Weber-Rendu Syndrome
-Mormans
-Telangeictases of skin & mucus membranes & recurrent hemorrhage |
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Term
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Definition
| Inherited defect of erthrocyte skeletal proteins, causing round RBCs and hemolytic anemia from destruction in spleen |
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Term
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Definition
-Deficiency of fibrillin w/defects in skeletal, visual and CV systems
-Tall, thin, arachnodactyly, hyperextensible joints, extopia lentis (dislocation of ocular lens), aneurysm & dissecting aneurysm of aorta, mitral valve prolapse |
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Term
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Definition
Aka von Recklinghausen disease
-Multiple neurofibromas, schwannomas of CN VIII, cafe au lait spots, Lisch nodules
-Ass w/skeletal disorders & incidence of other tumors (eg, Wilms, rhabomyosarcoma, leukemia, PCC)
-NF1 gene on Chrom 17 (17 letters in von R) |
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Term
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Definition
-Glial nodules & distored neurons w/seizures, mental retardation.
-Ass w/rhabdomyomas of heart and renal angiomyolipomas |
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Term
| von Hippel-Lindau Disease |
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Definition
-Hemangioblastomas, cavernous hemangiomas, adenomas, cysts of multiple organs & ass w/renal cell ca
-Chrom 3 |
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Term
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Definition
-Common in Ashkenazic Jews
-Df of Hexosaminidase A, accumulation of Gm2 ganglioside
-CNS degeneration, blindness, mental/motor deterioration, CHERRY-RED SPOT in macula, death before age 4 |
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Term
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Definition
-Df of glucocerebrosidase, accumulation of glucocerebrocide, w/three types
-Type I:hepatomegaly, erosion of bones, mild anemia, nl lifespan
Type II:severe CNS involvement, death<1yo
Type III: less severe than type II |
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Term
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Definition
-Df of sphingomyelinase, accum of sphingomyelin in phagocytes w/"foamy histiocytes"
-hepatosplenomegaly, anemia, fever +/- neuro degeneration, death by 3yo |
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Term
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Definition
-df of alpha-L iduronidase w/accum of heparin sulfate & dermatan sulfate
-death by 10yo w/mental retardation, HSM, dwarfism, gargoyle-features, stubby fingers etc |
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Term
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Definition
Type I glycogen storage disease
Df of glucose-6-phosphate causing hepatomegaly & hypoglycemia |
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Term
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Definition
Glycogen storage disease Type II
Df of alpha-1,4-glucosidase w/cardiomegaly, muscle hypotonia & splenomegaly, death of CR failure<3yo |
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Term
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Definition
Glycogen storage disease Type III
Df of debranching enzyme, leading to stunted growth, hepatomegaly & hypoglycemia |
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Term
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Definition
Glycogen storage disease type IV
Df of muscle phosphorylase, leading to painful cramps & weakness after excercise |
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Term
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Definition
-df of galactose-1 phosphate uridyl transferase, last step to Glu, AR.
-Accum of galactose-1-phosphate w/FTT, infantile cataracts, mental retardation, cirrhosis and death.
-Tx w/galactose-free diet |
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Term
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Definition
-Df of galactokinase, causing galactosemia & galactosuria.
-First step in conversion of galactose-->glucose
-infantile cataracts |
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Term
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Definition
-Mut in phenylalanine hydroxylase, leading to phenylalanine buildup & tyrosine needed in diet.
-Blond & blue eyed, mental/growth retardation, musty body odor. |
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Term
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Definition
-df of homogentisic oxidase in degradation pathway of tyrosine
-Increase in homogentisic acid
-Urine turns black on standing, dark connective tissue |
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Term
| Maple Syrup Urine Disease |
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Definition
-Blocked degredation of branched AA (Ile, Val, Leu) due to decrease in alpha-ketoacid dehydrogenase
-Severe CNS defects, mental retardation & death |
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Term
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Definition
-Defect in CFTR gene, chrom 7
-Malfxn of exocrine glands w/increased viscosity of mucus, increased Cl in sweat/tears
-Leads to chronic pulm disease,pancreatic insuff, meconium ileus in newborns |
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Term
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Definition
-Lysosomal storage dz, df of L-iduronosulfate sulfatase, leading to accum of heparan sulfate & dermatan sulfate
-Mild Hurler's + aggressive behavior & no corneal clouding |
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Term
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Definition
-Df of alpha-galactosidase A w/accum of ceramide trihexoside, XR
-Characteristic angiokeratomas, periph neuropathy of hands/feet, CV&renal disease |
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Term
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Definition
-XR, mutations in factor VIII gene on tip of long arm of X
-Df of coagulation leading to hemorrhage |
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Term
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Definition
-df of HGPRT w/impaired purine metabolism & excess uric acid prod
-Gout, mental retardation, choreoathetosis, spasticity, self-mutalation, aggressive |
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Term
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Definition
-Enzyme is rate-lim in HMP shunt, which produces NADPH, which is necessary for glutathione reduction, which detox free radicals & peroxidases
-Leads to hemolytic anemia, esp w/under oxidative stress
-Heinz bodies, XR |
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Term
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Definition
-AR Df in aldolase B, causing fructose 1-P to accum, reducing phosphate available --> inhibits glycogenolysis and gluconeogenesis
-Hypoglycemia, jaundice, cirrhosis, vomiting
-Tx w/diet low in fructose and sucrose (glu+fruc) |
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Term
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Definition
-Df in fructokinase
-Benign asymptomatic, other than fructose in urine |
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Term
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Definition
-Df of either 1)Tyrosinase(inability to synthesize melanin from tyrosine) or 2)defective tyrosine transporters (decrease try therefore decreased melanin)
-Can result from lack of migration neural crest cells
-Increased risk of skin cancer |
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Term
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Definition
3 forms 1)cystathione synthase df, 2)dec affinity of cystathionine for pyridoxal phosphate, 3)methionine synthase df
-Excess Homocys in urine, cystine becomes essential
-Mental retardation, OP, tall, kyphosis, lens sublaxation, athlersclerosis |
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Term
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Definition
-Inherited defect of renal tubular AA transporter for COLA: cystine, ornithine, lysine, arginine
-Leads to uric acid stones
-Tx w/acetazolamide to alkalize the urine |
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Term
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Definition
-AR Df of beta-galacotsidase, accum of galactocerebroside (sim to Gaucher's)
-Periph neuropathy, dev delay & optic atrophy |
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Term
| Metachromatic leukodystrophy |
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Definition
-AR Df of arylsulfatase A, accum of cerebroside sulfate
-Cental/periph demyelination w/ataxia & demetia |
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Term
| Neurofibromatosis Type II |
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Definition
-AD bilateral acoustic neuromas, optic pathways gliomas, juvenile cataracts
-NF2 gene on Chrom 22
"Type II-NFII-Chrom 22" |
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Term
| Familial Adenomatous Polyposis |
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Definition
-Colon covered w/polyps after puberty, progresses to colon cancer unless resected
-Del in Chrom 5 (5 letters in polyp) |
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Term
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Definition
-AD cell-signaling defect in FGF-Receptor 3
-Dwarfism w/short limbs but head/trunk nl size |
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Term
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Definition
-alpha1-AT nl inhibits elastase from neurtrophils
-when df, elastase destroys alveolar walls --> emphysema
-Smokers have incrased destruction, can tx w/weekly alpha1AT infusions |
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Term
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Definition
-Del of dystrophin gene from frameshift mutation
-Onset before 5yo, begins in pelvic girdle and moves up
-Pseudohypertrophy of calf muscles w/Gower's maneuver (using arms to get up), increased CPK
-Fatal at young age |
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Term
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Definition
| Mutated dystrophin gene, less severe than Duchenne's |
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Term
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Definition
-Del in 4p16
-"Warrior helmet" w/prominent forehead, broad nose base, short philtrum, down-turned mouth, congenital HD, growth retardation, severe mental retardation |
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Term
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Definition
Breakpoints 14p11 and 14q32
-mild dysmorphic features, seizures, and mental retardation |
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Term
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Definition
Block in steroid hormone production leading to decreased sex hormones & cortisol, but increased mineralocorticoids (due to shunting)
-Leads to HTN, hypokalemia, phenotypically female but no maturation |
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Term
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Definition
| Most common form of CAH - leads to decreased cortisol (w/increased ACTH), decreased mineralocorticoids, but increased sex hormones - leads to masculinization and female pseudohermaphroditism, hypOtention, hyponatremia, hyperkalemia, increased renin, volume depletion - salt wasting can lead to hypocolumic shock in newborn |
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Term
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Definition
| CAH w/decreased cortisol, decreased mineralocorticoids, increased sex hormones - masculinization, HTN (b/c intermediate 11-deoxycorticosterone acts as weak MC) |
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Term
| Hereditary Hemochromatosis |
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Definition
| Hfe gene on Chrom 6 - "bronze diabetes" w/micronodular cirrhosis, pancreatic fibrosis, DM, and skin pigmentation - increased serum iron & ferritin, decreased TIBC - results in CHF & increased risk of HCC |
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