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Genetic Diseases FA
WVSOM -- First Aid -- Genetics
Question | Answer |
---|---|
Achondoplasia | AD |
ADPKD | AD |
FAP | AD |
Familial hypercolesterolemia (hyperlipidemia type IIA) | AD |
Osler-weber-Rendu Syndrome | AD |
Hereditary spherocytosis | AD |
Huntington's Disease | AD |
Marfan's Syndrome | AD |
MEN | 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 |
G6PD | 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 |