Genes Flashcards
ADAMTSL2
Geleophysic dysplasia
COL2A1 (n=4)
Type II achondrogenesis - hypochondrogenesis
Spondyloepiphyseal dysplasia congenita
Stickler Syndrome
Kniest dysplasia
COMP (n=2)
Multiple epiphyseal dysplasia
Pseudoachondroplasia
DYM (n=2)
Protein = dymeclin
Dyggve-Melchior-Clausen Syndrome
Smith-McCort dysplasia
ERCC6
Cockayne Syndrome
Cerebro-occulo-facial syndrome
DeSanctis-Cacchione Syndrome
FBN1
Geleophysic dysplasia
FLNA
Protein=filamin A (Xq28)
Frontometaphyseal dysplasia
Oto-palato-digital syndromes
Melnick-Needles Syndrome
FLNB
Protein=filamin B Spondylocarpotarsal synostosis Larsen Syndrome Atelosteogenesis types I + III Boomerang dysplasia
FGFR2
Crouzon Syndrome
Pfeiffer Syndrome
Apert syndrome
Antley-Bixler syndrome (no steroid issues)
FGFR3
Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
Crouzon syndrome with acanthosis nigricans
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
Muenke craniosynostosis
Antley Bixler Syndrome
GLI3
Greig cephalopolysyndacyly syndrome
Pallister-Hall syndrome
Acrocallosal syndrome
IRF6
Van der Woude syndrome
Popliteal pterygium syndrome
PITX2
Axenfield Rieger Syndrome
SHORT syndrome
RECQL4
Baller-Gerold Syndrome
Rothmond-Thomson Syndrome
RAPADILINO syndrome (finnish pop’n only)
SLC26A2
Prtn: diastrophic dysplasia sulfatase transporter Achondrogenesis type IB Diastrophic dysplasia Multiple epiphyseal dysplasia Atelosteogenesis type II
TP63
EEC Syndrome
Hay-Wells Syndrome of ectodermal dysplasia (AEC syndrome)
TRPV4
Spondylometaphyseal dysplasia, Kozlowski type
Metatrophic dysplasia
Neurodegenerative disorders
NOG
noggin=prtn
Multiple synostosis syndrome (AD)
CHST3
carbohydrate sulfotransferase 3 - prtn Larsen syndrome (AR)
EXT1
Hereditary multiple exostoses syndrome (AD)
More severe form
In combination with ID and behaviour - microdeletion of EXT1 and TRPS1 (8q24 deletion) Langer Giedion
EXT2
Hereditary multiple exostoses syndrome (AD)
Proximal 11p deletion - Potocki-Shaffer syndrome
LMX1B
LIM-homeodomain gene
Nail-Patella Syndrome (AD)
ABCC9
Sulfonylurea receptor (ATP-sensitive potassium channels) Cantu Syndrome - heterozygous missense mutation Dilated cardiomyopathy - loss of function mutation Minoxidil (antihypertensive vasodilator) - mimics Cantu - agonist of the ABCC9 related K+ channel
FIG4
Phosphoinositide phosphate
Regulates 3,5-bisphosphate, autophagy and endosomal trafficking
Yunis-Varon syndrome
