Mcc of cell injury
Ischemia(hypoxia)
Proggramed cell death with RIPK 1 and MLKL Phosphorylation
Necroptosis
PCD with caspase 1, 4, 5, 11
Pyroptosis(IL 1)
Autosomal Dominant Diseases
HS, HOCM
EDS
ACHONDROPLASIA,AIP
VWD
y
MEN: MARFAN, MD,MEN
NEUROCUTANEOUS SYNDROME
Only: Osteogenesis imperfecta
Autosomal Recessive
A - ataxia telengiectasia,
B-blood disorder like B thall , SCA
C - Cystic fibrosis, CAH
D- deafness(sn)
E- Emphysema, errors of metabolism
F- F.ataxia
Wilson
Menkes
XLR
DMD
HEMOPHILIA A /B/C
G6PD
LESCH NYHAN
XLD
RAVI
RP
AlPort(AP)
Vit D hypoPosphotemia(VP)
IP