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Genetic Diseases FA

WVSOM -- First Aid -- Genetics

Achondoplasia AD
Familial hypercolesterolemia (hyperlipidemia type IIA) AD
Osler-weber-Rendu Syndrome AD
Hereditary spherocytosis AD
Huntington's Disease AD
Marfan's Syndrome AD
Neurofibromatosis AD
Tuberous sclerosis AD
von Hippel-Lindau Disease AD
Albinism AR
Infantile Polycystic Kidney Disease AR
Cystic Fibrosis AR
Glycogen Storage Diseases AR
Hemochromatosis AR
Hurler's AR
Hunter's X-linked Recessive
Phenylketonuria AR
sickle cell AR
Tay-sach AR
Neimann Pick AR
Gaucher AR
Thalassemias AR
Bruton's agammaglobulinemia X linked recessive
Wiskott-aldrich syndrome XR
Fabry XR
Ocular albinism XR
Lesch-Nyhan syndrome XR
Duchenees and Beckers XR
Hunter's XR
hemophilia XR
Trisomy 18 Edwards
Trisomy 13 patau
Cell-signaling defect of fibroblast growth factor receptor 3 Achondroplasia
BILATERAL, massive enlargement of kidneys due to multiple large cysts. Mutation in APKD1 Chromosome 16 ADPKD
Deletion on chromosome 5 (APC gene) FAP (5 leters in polyp)
Defective or absent LDL receptor Familial hypercholesterolemia
telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations Osler-Weber-Rendu Syndrome (hereditary hemorrhagic telangiectasia
Spectrin or ankyrin defect with increased MCHC hereditary spherocytosis
Chromosome 4 with trinucleotide repeat disorder Huntingtons Disease
Fibrillin gene mutation, subluxation of lenses Marfan's
Cafe-au-lait spots, neural tumors, Lisch nodules. Chromosome 17 von Recklinghousen Disease (NF type 1)
Bilateral acoustic neuroma. Chromosome 22 NF2 (NF2 gene on chromosome 22)
facial lesions, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cycst and cardiac rabdomyomas with increased incidence of astrocytomas tuberous sclerosis (incomplete penetrance)
Hemangioblastomas of retina/cerebellum/medulla; half develop multiple bilateral renal cell carcinoma. Deletion of gene on chromosome 3. Deletion of VHL gene on chromosome 3 von Hippel-Lindau disease
X-linked frame shift mutation resulting of deletion of dystrophin gene Duchenne's
X-linked mutated dystrophin gene Becker's
Increased CPK and muscle biopsy Muscular dystrophies
X-linked defect affecting the methylation and expression of the FMR1 gene Fragile X
Extra large testes, jaw and ears Fragile X
5p- cri-du-chat syndrome
Congenital microdeletion of long arm of chromosome 7 including elastin gene williams syndrome
22q11 deletion DiGeorge
aberrant development of 3rd and 4th branchial poiuches DiGeorge
Deletion of normally active Paternal allele on chromosome 15 Prader-Willi syndrome
Deletion of normally active Maternal allele on Chromosome 15 angelman's
Defects in structural genes AD
Enzyme deficiencies seen only in 1 generation AR
No male to male transmission XR
All female offspring of the affected father are diseased XD
tranmitted only thru mother mitochondrial inheritance
Leber's hereditary optic neuropathy mitochondrial inheritance
Hypophosphatemic rickets XD
vWF Disease AD
Deficiency of factor VIII Hemophilia A
Deficiency of Factor IX Hemophilia B
Thrombocytopenic purpura, Infections, Eczema. Wiskott-Aldrich Syndrome
Progressive deletion of B and T cells Wiskott-Aldrich Syndrome
SCID X-Linked
Defective IL-2 receptor SCID
Recurrent pyogenic infection by shaph and strep; partial albinism Chediak-Higashi Syndrome
Inability of body to break down iron hemochromotosis
ABD, arthralgia, amenorhea, CHF hemochromatosis
Created by: tjamrose



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