Term
| Polycystic kidney disease, ADPKD |
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Definition
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Term
| Marfan Syndrome, fibrillinopathies |
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Definition
AD
FBN1 (Fibrillin on 15)
Aortic aneurysm and dissection, aortic root dilation, mitral valve prolapse, long fingers and toes, pectus excavatum or carinatum, scoliosis, pronated feet, lens dislocations, near sightedness. |
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Term
| Neurofibromatosis, type 1, NF1 |
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Definition
AD
NF1; Neurofibromin gene (a GTPase activating protein), loss of fx mutation resulting in GTP build-up in cells. Syndrome of benign tumors known as neurofibromas, can occasionally become malignant. Schwannoma, glioma, pheochromocytoma, and leukemia. Café-au-lait spots, fleshy neurofibromas, hamartomatous lesions of iris, axillary freckling, |
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Term
| Familial hypercholesterolemia |
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Definition
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Term
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Definition
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Term
| Cystic fibrosis, CF; Congenital absence of the vas deferens, CAVD;CFTR‐related disorders |
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Definition
AR
CFTR (most common: ∆F508; chloride channels)
Increased sweat chloride content, lung disease, pancreatic insufficiency, male infertility, |
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Term
Sickle cell anemia,
trait = carrier status |
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Definition
AR
HB-B; Sickle cell “S” allele results from glutamate->valine substitution in beta-chain of Hemoglobin.
During hypoxemia or high Hgb concentration the abnormal Hgb S aggregates, causing RBCs to assume sickle shapevasocclusive crisesinfarction of spleen, brain, BM, kidney, lung; aseptic necrosis of bone, gallstones, priapism, ankle ulcers. |
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Term
Hemophilia A,
Factor VIII deficiency |
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Definition
XL
Factor VIII mutation, part of the clotting cascade
Inability to form clots, common to bleed into the joint space or the gut. Hemophilia B – Factor IX. |
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Term
Duchenne/Becker muscular dystrophy,
DMD/BMD; dystrophinopathies |
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Definition
XL
dystrophin on X chromosome; loss of function
Weakness of proximal limb girdles of upper and lower extremity, wheelchair bound by puberty, don’t usually survive to adulthood, Gower’s sign, pseudohypertrophic calf muscles, some degree of MR, cardiomyopathy possible. Mostly affects males, but females can be mildly affected. ; BMD "clumsy", less severe |
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Term
Fragile X syndrome;
Fragile X associated tremor/ataxia syndrome, FXTAS; FMR1‐ related primary ovarian insufficienyPOI; FMR1‐related disorders |
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Definition
XL
repeat expansion; repeats expand only during female meiosis. 50% of females are penetrant. Displays anticipation. FMR1 at Fragile X site, mutation is CGG expansion; "8-50 CGG repeats=normal; 50-200 is premutation carrier; 200-1000 is Fragile X. If have less than 90 repeats, 80% chance it will expand during meiosis. If more than 90, 100% chance of expansion.
Dysmorphic features (long face, prominent ears, jaw, forehead), severe MR, macrorchidism, hyperextensible joints. Premutation carrier females can have premature ovarian failure. |
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Term
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Definition
AD repeat expansion
age dependant penetrance. Displays anticipation.
HTT: Huntingtin in chrom 4p, CAG trinucleotide repeat, coding polyglutamine. Expansion of repeat occurs during paternal meiosis.
Premutation: 27-36 CAG; >40 is Huntington’s Dz.
Chorea, dementia, personality changes, reduced attention span, poor judgment, occasional psychosis. Degeneration of caudate and putamen. The greater the # of repeats, the earlier the onset and the greater the severity. |
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Term
Sickle cell anemia,
trait = carrier status |
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Definition
AR
HB-B; Sickle cell “S” allele results from glutamate->valine substitution in beta-chain of Hemoglobin.
During hypoxemia or high Hgb concentration the abnormal Hgb S aggregates, causing RBCs to assume sickle shapevasocclusive crisesinfarction of spleen, brain, BM, kidney, lung; aseptic necrosis of bone, gallstones, priapism, ankle ulcers. |
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Term
Hemophilia A,
Factor VIII deficiency |
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Definition
XL
Factor VIII mutation, part of the clotting cascade
Inability to form clots, common to bleed into the joint space or the gut. Hemophilia B – Factor IX. |
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Term
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Definition
"imprinting; multiple
mechanisms; Imprinting OR maternal uniparental disomy. Diagnose w/FISH. multiple genes in PWASCR; Microdeletion in chromosome 15.
This is imprinting, where gene expression occurs from only one parent’s allele. Phenotype depends on which parent you inherit the mutation from – in this case the father. Failure to thrive, hypotonia, mild to moderate MR, childhood obesity, |
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Term
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Definition
imprinting; multiple
mechanisms; Imprinting, or single point mutation in SNRPN gene. UBE3A in PWASCR; Microdeletion in chromosome 15 (identical to Prader-Willi deletion). Diagnose w/FISH. Phenotype depends on which parent you inherit the mutation from – the mother in Angelman’s. Small body, severe MR, marionette-like scissoring gate aka “happy puppet”. |
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Term
| Wolf-Hirschhorn syndrome,4p- syndrome |
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Definition
chromosomal deletion
multiple genes |
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Term
22q11.2 deletion syndrome;
velocardiofacial syndrome,VCFS; DiGeorge syndrome |
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Definition
| microdeletion, TBX1, multiple other genes; 22q11.2 microdeletion VCFS: Submucous cleft palate (velo), conotruncal heart disease (cardio), unique facies (facial), learning probs, mental illness. // DiG: Conotruncal heart disease, absent or hypoplastic thymusimmune deficiency, sm/absent parathyroid glands hypocalcemia. |
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Term
| Down syndrome, trisomy 21 |
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Definition
chromosomal; Maternal nondisjunction (associated with advanced maternal age -AMA)
multiple genes
Hypotonia, flat nasal bridge, upslanting palpebral fissures, epicanthal folds, brushfield spots of iris, flat midface, small dysplastic ears, protruding tongue, brachycephaly, excess nuchal skin, short broad hands, single palmar crease, congenital heart disease (Endocardial cushion defects), duodenal atresia. Later in life, increased risk of leukemia, hypothyroidism, and early onset Alzheimers |
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Term
Trisomy 18 syndrome,
Edwards syndrome |
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Definition
chromosomal maternal nondisjunction, AMA
multiple genes
Prenatal growth retardation, small ears, small mouth, small jaw (micrognathia), congenital heart disease, severe MR. Clenched hand, hypotonia, rocker bottom feet, prominent occiput. 50% mortality by one month of age. |
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Term
Trisomy 13 syndrome,
Patau syndrome |
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Definition
chromosomal maternal nondisjunction and AMA
multiple genes
Midline defects such as holoprosencephaly, cleft lip/palate, microphthalmia, congenital heart disease, renal abnormalities, postaxial polydactyly, cutis aplasia, severe MR. Survival similar to trisomy 18. |
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Term
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Definition
chromosomal 47, XXY (extra X chromosome in males)
multiple genes
Tall, eunuchoid habitus, gynecomastia, testicular atrophy, infertility. Lower IQ compared to sibs. Can be reversed (except for infertility) w/testosterone tx. |
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Term
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Definition
chromosomal 45X (missing 1 X),females only affected
multiple genes
Short, lymphedema (puffy hands & feet), webbed neck, broad chest, widely spaced nipples, cubitus valgus, congenital heart disease (coarcted aorta), kidney probs, gonadal dysgenesis, amenorrhea, infertility. Normal intelligence, difficulties w/spatial perception. |
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