Genetic Diseases

jatadescargas's version from 2016-02-11 17:09


Question Answer
AchondroplasiaAutosomal Dominant
ADPKDAutosomal Dominant - always bilatera, chromosome 16 (polycystic kidney has 16 letters), berry aneurysms
Familial adenomatous polyposisAutosomal Dominant - APC gene, chomosome 5 (5 letters in polyp)
Familial hypercholesterolemiaAutosomal Dominant - hyperlipidemia type IIA -- elevated LDL due to defective or absent LDL receptor
Osler-Weber-RenduAutosomal Dominant - Hereditary Hemorrhagic telangiectasia - inherited disorder of blood vessels. Findgins: telaniectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs)
Hereditary sperhocytosisAutosomal Dominant
Huntington's diseaseautosomal dominant -- chormosome 4 -- hunting 4 food
MarfanAutosomal Dominant - fibrillin gene mutation
Multiple Endocrine NeoplasiasAutosomal Dominant - 2A and 2B a/w ret gene
NF Type 1Autosomal Dominant -- von Recklinghausen's disease -- chomosome 17 -- 17 letters in von Recklinghausen
NF type 2Autosomal Dominant -- chromosome 22 -- bilateral acoustic schwannomas
Tuberous sclerosisAutosomal Dominant -- Findings: facial lesions (adenoma sebaceum), hypopigmented "ash leaf" spots on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astromcytomas. Incomplete penetreance, variable expressions.
von Hippel-Lindau diseaseAutosomal Dominant - hemangioblastomas of retina/cerebellum/medulla; about 1/2 of individuals develop bilateral renal cell carcinomas and other tumors. VHL gene chromosome 3 (VHL - 3 letters)
AlbinismAutosomal recessive
ARPKDAutosomal recessive - autosomal recessive polycystic kidney disease, formerly known as infantile polycystic kidney disease
cystic fibrosisAutosomal recessive
glycogen storage diseasesAutosomal recessive
hemochromatosisAutosomal recessive
mucopolysaccharidosesAutosomal recessive (except Hunter's)
PKUAutosomal recessive
sickle cellAutosomal recessive
sphingolipidoses Autosomal recessive (except Fabry's)
thalessemiasAutosomal recessive
Bruton's agammaglobulinemiaX-linked recessive
Wiskott-Aldrich syndromeX-linked recessive
Fabry'sX-linked recessive
G6PD DeficiencyX-linked recessive
Ocular AlbinismX-linked recessive
Lesch-Nyhan SyndromeX-linked recessive
Duchenne'sX-linked recessive
Becker'sX-linked recessive
Hunter's syndromeX-linked recessive
Hemophilia A/BX-linked recessive
Diseases based on trinucleotide repeats (4)Huntington's, Friedrich's ataxia, Fragile X, and myotonic dystrophy
Down's findingsmental retardation, flat facies, prominant epicanthal folds, simian crease, gap between 1st 2 toes, duodenal atresia, congential heart disease, a/w ALL and Alzheimer's
Edwardtrisomy 18; findings: sever mental retardation, rocker-bottom feet, micronathia (small jaw), low-set ears, clenched hands, prominent occiput, congenital heard disease; death usually in 1 year
Patautrisomy 13; findings: sever mental retardation, rocker-bottom feet, microphthalmia, microcephaly, cleft lip, cleft palate, holoprosencephaly, polydactyly, congential heart disease; death usually occurs in 1 year
Cri-du-chatcongenital microdeletion of short arm of chrom 5; findings: microcephaly, moderate to severe MR, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities
Williams syndromecongenital microdeletion of long arm of chormosome 7; findings: distinctive "elfin" facies, MR, hypercalcemia (increased sensitivity to Vit D), well-developed verbal skills, extreme friendlines with strangers, cardiovascular problems