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Achondroplasia
- Autosomal Dominant
- Cell-signaling defect of fibroblast growth factor receptor 3.
dwarfism, short limbs, but head and trunk are normal size
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ADPKD
- Bilateral, massive enlargement of kidneys due to multiple large cysts.
- Flank pain, hematuria, htn, progressive renal failure.
- Chromosome 16
Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse.
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Familial adenomatous polyposis
- Autosomal Dominant
- Deletion on chromosome 5
- polyps on colon -> cancer if not resected
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Familial hypercholesterolemia
- (hyperlipidemia type IIA)
- Elevated LDL due to defective or absent LDL
Severe atherosclerotic disease early, tendon xanthomas(achilles), hypertrophic cardiomyopathy -> MI before 20yoa
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Osler-Weber-Rendu syndrome
- Hereditary hemorrhagic telangiectasia
- Autosomal Dominant
- Inherited disorder of blood vessels
Telangiectatia, recurrent epistaxis, skin discolorations, AVMs.
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Hereditary Spherocytosis
Autosomal dominant
- Spheroid erythrocytes due to spectrin or ankyrin defect.
- hemolytic anemia
- DX: osmotic Fragility test.
- TX: splenectomy
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Huntington's Disease
- Autosomal Dominant
- CAG trinucleotide repeat
- caudate atrophy -> decrease levels of GABA and ACh in brain
Depression, progressive dementia, choreiform movements.
Chromosome 4
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Marfan's Syndrome
- Autosomal dominant
- Fibrillin gene mutation
Tall with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly, aortic dissection, floppy mitral valve, sublxation of lenses.
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Multiple Endocrine neoplasia 1
- Autosomal Dominant
- Tumor of pituitary, parathyroid, pancreas
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Multiple Endocrine neoplasia 2A
- Tumor of medullary thyroid carcinoma , parathyroid, and pheochromocytoma
- ret gene association
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Multiple Endocrine neoplasia 2B
- Autosomal Dominant
- Tumor of the head,medullary thryoid carcinoma, pheochromocytoma
- Associated with ret gene
-
Von Recklinghausens disease
- Neurofibromatosis type 1
- Autosomal Dominant
Cafe-au-lait spots, neural tumors, Lisch nodules, scoliosis, and optic pathway gliomas.
Chromosome 17
-
Neurofibromatosis type 2
- Autosomal Dominant
- Bilateral acoustic schwannomas, juvenile cataracts
- chromosome 22
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Tuberous Sclerosis
- Autosomal dominant
- Facial lesions (adenoma sebaceum), ash leaf spots, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas
Variable presentation
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von-Hippel Lindau disease
- Autosomal Dominant
- Hemangioblastomas of retina/cerebellum/ medulla, bilateral renal cell carcinomas.
Deletion of VHL gene on chromosome 3. -> constitutive expression of HIF and activation of angiogenic growth factor.
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