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Inherited diseases
All of them
54
Agriculture
2nd Grade
06/08/2012
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Term
Achondroplasia
 Definition
Autosomal Dominant
Term
Adult Polycystic kidney disease
 Definition
Autosomal Dominant
Term
Familial Adenomatous Polyposis
 Definition
Autosomal Dominant
Term
Familial hypercholesterolemia
 Definition
Autosomal Dominant
Term
Hereditary hemorrhagic telangiectasia (Osler Weber Rendu syndrome)
 Definition
Autosomal Dominant
Term
Hereditary spherocytosis
 Definition
Autosomal Dominant
Term
Huntingtong's Disease
 Definition
Autosomal Dominant
Term
Marfan's Syndrome
 Definition
Autosomal Dominant
Term
Multiple Endocrine Neoplasms (MEN)
 Definition
Autosomal Dominant
Term
Neurofibromatosis type 1
 Definition
Autosomal Dominant
Term
Neurofibromatosis type 2
 Definition
Autosomal Dominant
Term
Tuberous sclerosis
 Definition
Autosomal Dominant
Term
Von Hippel-Lindau disease
 Definition
Autosomal Dominant
Term
Albinism
 Definition
Autosomal recessive
Term
Juvenile polycystic kidney disease
 Definition
Autosomal recessive
Term
Cystic Fibrosis
 Definition
Autosomal recessive
Term
Glycogen storage diseases
 Definition
Autosomal recessive
Term
Hemochromatosis
 Definition
Autosomal recessive
Term
Mucopolysaccharidoses
 Definition
Autosomal recessive
Term
Phenylketonuria
 Definition
Autosomal recessive
Term
sickle cell anemias
 Definition
Autosomal recessive
Term
Spingolipidoses
 Definition
Autosomal recessive
Term
Bruton's agamma-globulinemia
 Definition
X-linked recessive
Term
Wiskott aldrich syndrome
 Definition
X-linked recessive
Term
Fabry's disease
 Definition
X-linked recessive
Term
G6PD deficiency
 Definition
X-linked recessive
Term
Lesch Nyhan syndrome
 Definition
X-linked recessive
Term
Duchenne's (Becker) muscular dystrophy
 Definition
X-linked recessive
Term
Hunter's syndrome
 Definition
X-linked recessive
Term
Hemophilia A & B
 Definition
X-linked recessive
Term
Flank pain bilaterally. Chromosome 16
 Definition
Autosomal dominant polycystic kidney disease

Autosomal Dominant
Term
Colon covered by numerous polyps. Turns into colon cancer.
 Definition
Familial adenomatous polyposis

Autosomal Dominant
Term
Gardener's syndrome assiated
Associated with APC gene
 Definition
Familial adenomatous polyposis

Autosomal Dominant
Term
Defective LDL receptor
 Definition
Familial Hypercholesterolemima (Type IIA)

Autosomal Dominant
Term
Severe atherosclerotic disease early in life, tendon xanthomas, MI before the age of 20
 Definition
Familial Hypercholesterolemima (Type IIA)

Autosomal Dominant
Term
Inherited disorder of blood vessels
Recurrent epistaxis (nosebleeds)
Telangiectasia
 Definition
Hereditary hemorrhagic telangiectasia

Autosomal Dominant
Term
Sphereoid erythrocyte
Increases MCHC, Increased RDW
Causes anemia
 Definition
Hereditary spherocytosis

Autosomal Dominant

tx: splenectomy
Term
Defect due to spectrin or ankyrin defect
Elevated MCHC (mean cell hemoglobin concentration)
 Definition
Hereditary spherocytosis

Autosomal Dominant

Splenectomy is curative
Term
Dimentia
Chorea
Caudate atrophy
CAG repeats
 Definition
Huntington's disease

Autosomal Dominant
Term
Depression,
Decreased levels of GABA and ACh in the brain
Gene located on chromosome 4
 Definition
Huntington's disease

Autosomal Dominant
Term
Fibrillin gene mutation
 Definition
Marfan's syndrome

Autosomal Dominant
Term
Connective tissue disorder afecting skeleton, heart, eyes, long tapering fingers Floppy mitral valve
 Definition
Marfan's syndrome

Autosomal Dominant

Berry aneurisms
Aortic dissections
Term
Genetic defect of Fibroblast growth factor receptor
 Definition
Achondroplasia

Autosomal Dominant
Term
Short limbs
Associated with advanced paternal age
 Definition
Achondroplasia

Autosomal Dominant
Term
Associated with RET gene mutation
 Definition
Multiple endocrine neoplasias

Autosomal Dominant
Term
Cafe au lait spots
neural tumors
lisch nodules (pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris)
 Definition
Neurofibromatosis type I

Autosomal Dominant
Term
Bilateral acoustic neuroma
 Definition
Neurofibromatosis type II


Autosomal Dominant
Term
Facial lesions
Hypopigmental "ash leaf spots"
cortical and retinal hamartomas, seizures, mental retardation
Increased incidence of astrocytomas
 Definition
Tuberous sclerosis


Autosomal Dominant
Term
Hemangioblastomas of retina/cerebullum/medulla
Multiple bilateral renal cell carcinomas and other tumors
 Definition
von Hippel-Lindau disease


Autosomal Dominant
Term
Deletion of VHL gene (tumor suppressor) on chromosome 3
Results in constitutive expression of HIF
 Definition
von Hippel-Lindau disease

Autosomal Dominant
Term
von Recklinghausen's disease
 Definition
Neurofibromatosis type I
Term
Associated with polycystic liver disease, berry aneurysms, mitral valve prolapse
 Definition
Autosomal dominant polycystic kidney disease
Term
lisch nodules (pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris)
 Definition
Neurofibromatosis type I
Term
Also known as
von Recklinghausen's disease
Chromosome 17
 Definition
Neurofirbromatosis type 1
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