Straight Memorization BS Flashcards
immunodeficiencies
seriously
signaling pathways
why????
- MAP-kinase
- PI3K/Akt/mTOR
- IP3
- cAMP
- JAK/STAT
things post MI
this bs
things post stroke
ugh
X-linked d/os
Oblivious Females Will Often Give Her Boys Her x-Linked Disorders Ornithine transcarbamylase def Fabry dz Wiskott-Aldrich synd Ocular albinism G6PD def Hunter synd Bruton agammaglobulinemia Hemophilia A/B Lesch-Nyhan synd Duchenne (and Becker) MD
AutoRec dzs
albinism ARPKD CF glycogen storage dzs hemochromatosis Kartagener mucopolysaccharidoses (except Hunter) PKU sickle cell sphingolipidoses (except Fabry) thalassemia Wilson
chromosome 3
VHL dz,
renal cell carcinoma
chromosome 4
ADPKD (PKD2)
achondroplasia,
Huntington
chromosome 5
Cri-du-chat syndrome
FAP
chromosome 6
hemochromatoSIX
chromosome 7
Williams synd
CF
chromosome 9
Friedreich ataxia
chromosome 11
Wilms tumor
sickle cell
beta thal
chromosome 13
Patau
Wilson
retinoblastoma (RB1)
BRCA2
chromosome 15
Prader-Willi
Angelman
Marfan
chromosome 16
ADPKD (PKD1)
alpha thal
chromosome 17
NF 1
BRCA 1
chromosome 18
Edwards
chromosome 21
down
chromosome 22
NF 2
DiGeorge (CATCH-22)
cGMP
guanylyl cyclase –> up cGMP
BNP
ANP
NO
Fabry def
alpha-gAlactosidase (–> extra globotriaosylceramide)
Tay-Sachs def
beta-hexosamidase A (–> extra GM2: ganglioside)
GaUcher def
beta-glUcocerebrosiderase (–> extra glucocerebroside)