Flashcards in autosomal dominant Deck (31):
cell signaling defect of fibroblast growth factor (FGF) receptor 3 - inhibit chondrocytes, cartilage growth (epiphyseal plate).
results in dwarfism.
short limbs, normal head and trunk.
increased age of which parent assoc. with achondroplasia?
massive kidneys due to multiple large cysts.
presentation of ADPKD
progressive renal failure.
90% ADPKD due to mutation in...
PKD1 on chromo 16
(16 letters in "polycystic kidney")
what other organ systems is ADPKD assoc. with?
polycystic liver disease.
mitral valve prolapse.
familial adenomatous polyposis
colon is COVERED with adenomatous polyps after puberty.
progresses to COLON CANCER unless resected.
FAP gene mutation
APC gene on chromo 5
(5 letters in "polyp")
hyperlipidemia type IIA.
elevated LDL due to defective or absent LDL receptor.
features of familial hypercholesterolemia (HOMOZYGOTE)
severe atherosclerotic dz early in life.
tendon xanthomas (Achilles).
MI may develop before age 20.
chol levels in familial hypercholesterolemia
heterozygote 300 mg/dL (1:500).
homozygote 700+ mg/dL (VERY RARE).
hereditary hemorrhagic telangiectasias
inherited d/o of bld vessels.
GI bleed, hematuria.
spheroid RBCs due to SPECTRIN or ANKYRIN defect.
cure for hereditary spherocytosis
trinucleotide repeat d/o (CAG).
gene on chromo 4 ("Hunting 4 food").
findings in Huntington's disease
decreased levels of GABA and ACh in brain.
sx manifest between age 20-50.
fibrillin gene mutation (ECM glycoprot).
conn tissue d/o affecting skeleton, heart, eyes.
findings in Marfan's syndrome
tall w/ long extremities.
long tapering fingers/toes (arachnodactyly).
subluxation of lenses**
how does Marfan's syndrome affect heart?
cystic medial necrosis of aorta =
aortic incompetence, dissecting aortic aneurysms.
floppy mitral valve.
multiple endocrine neoplasias (MEN)
1, 2A, 2B.
familial tumors of endocrine glands.
what gene are MEN 2A and 2B assoc with?
neurofibromatosis type 1 (von Recklinghausen's disease)
long arm of chromo 17 (17 letters in "von Recklinghausen").
features of NF1
cafe au lait spots.
Lisch nodules (iris).
skel d/o, scoliosis.
optic pathway gliomas.
pigmented iris hamartomas
neurofibromatosis type 2
NF2 gene on chromo 22.
features of NF2
bilateral acoustic scwannomas.
facial lesions (adenoma sebaceum).
ash leaf spots on skin.
cortical and retinal hamartomas.
increased incidence of astrocytoma.
genetic features of tuberous sclerosis
von Hippel-Lindau disease
deletion of VHL gene (tumor suppressor) on chromo 3p.
results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors.
features of von Hippel-Lindau disease
hemagioblastomas (retinal, cerebellum, medulla).
50% develop bilateral RCC and other tumors.