Genetics Flashcards
Syndactyly/Polydactyly
AD
Marfan syndrome
AD
- fibrilin 1
MHE
AD
- EXT1/2/3
Malignant hyperthermia
AD
- increased end tidal CO2 is the first sign
Ehlers-Danlos
AD
- type III collagen
Achondroplasia
AD
- FGFR3
- overactive
- proliferative growth plate zone
Osteogensis imperfecta
AD
- COL1a
Hypophosphatemic rickets
X linked dominant
- PHEX gene
Leri-Weil dyschondrosteosis
X linked dominant
Duchenne Muscular dystrophy
X linked recessive
Becker muscular dystrophy
X linked recessive
Hunter syndrome
X linked recessive
Hemophilia
X linked recessive
SED Tarda
X linked recessive
diastrophic Dysplasia
AR
- DTDST (sulfate transporter)
McCune Albright Syndrome
- sporadic mutation
- G alpha s subunit mutant
- adenylyl cyclate coupling G protein mutants
Multiple epiphyseal dysplasia
AD
- COMP (cartilage oligomeric protein)
SED Congenita
AD
- type II collagen defect
Apert syndrome
sporadic mutant
- FGFR2
Pseudoachondroplasia
AD
- COMP
All mucopolysaccharidoses
Hunter is X linked recessive
everything else is autosomal recessive
- morquio
Ochronosis
AR
- homogentisic acid oxidase system defect
Osteopetrosis
AD = mild form AR = infantile malignant form
Charcot Marie Tooth
AD
- PMP22
- peripheral myelin protein 22
Spinal Muscular Atrophy
AR
Neurofibromatosis Type I
AD
- chromosome 17
- neurofibromin mutation
Dupuytren contracture
AD
Holt-Oram Syndrome
AD
Larsen Syndrome
AD or AR
Radioulnar synostosis
AD
Rett Syndrome
sporadic vs X linked dominant
Thrombocytopenia Absent Radius Syndrome (TAR)
AR
