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Genes > Genes > Flashcards

Genes Flashcards

1
Q

ADAMTSL2

A

Geleophysic dysplasia

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2
Q

COL2A1 (n=4)

A

Type II achondrogenesis - hypochondrogenesis
Spondyloepiphyseal dysplasia congenita
Stickler Syndrome
Kniest dysplasia

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3
Q

COMP (n=2)

A

Multiple epiphyseal dysplasia

Pseudoachondroplasia

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4
Q

DYM (n=2)

A

Protein = dymeclin
Dyggve-Melchior-Clausen Syndrome
Smith-McCort dysplasia

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5
Q

ERCC6

A

Cockayne Syndrome
Cerebro-occulo-facial syndrome
DeSanctis-Cacchione Syndrome

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6
Q

FBN1

A

Geleophysic dysplasia

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7
Q

FLNA

A

Protein=filamin A (Xq28)
Frontometaphyseal dysplasia
Oto-palato-digital syndromes
Melnick-Needles Syndrome

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8
Q

FLNB

A 
Protein=filamin B
Spondylocarpotarsal synostosis
Larsen Syndrome
Atelosteogenesis types I + III
Boomerang dysplasia
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9
Q

FGFR2

A

Crouzon Syndrome
Pfeiffer Syndrome
Apert syndrome
Antley-Bixler syndrome (no steroid issues)

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10
Q

FGFR3

A

Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
Crouzon syndrome with acanthosis nigricans
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
Muenke craniosynostosis
Antley Bixler Syndrome

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11
Q

GLI3

A

Greig cephalopolysyndacyly syndrome
Pallister-Hall syndrome
Acrocallosal syndrome

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12
Q

IRF6

A

Van der Woude syndrome

Popliteal pterygium syndrome

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13
Q

PITX2

A

Axenfield Rieger Syndrome

SHORT syndrome

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14
Q

RECQL4

A

Baller-Gerold Syndrome
Rothmond-Thomson Syndrome
RAPADILINO syndrome (finnish pop’n only)

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15
Q

SLC26A2

A 
Prtn: diastrophic dysplasia sulfatase transporter
Achondrogenesis type IB
Diastrophic dysplasia
Multiple epiphyseal dysplasia
Atelosteogenesis type II
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16
Q

TP63

A

EEC Syndrome

Hay-Wells Syndrome of ectodermal dysplasia (AEC syndrome)

17
Q

TRPV4

A

Spondylometaphyseal dysplasia, Kozlowski type
Metatrophic dysplasia
Neurodegenerative disorders

18
Q

NOG

A

noggin=prtn

Multiple synostosis syndrome (AD)

19
Q

CHST3

A 
carbohydrate sulfotransferase 3 - prtn
Larsen syndrome (AR)
20
Q

EXT1

A

Hereditary multiple exostoses syndrome (AD)
More severe form
In combination with ID and behaviour - microdeletion of EXT1 and TRPS1 (8q24 deletion) Langer Giedion

21
Q

EXT2

A

Hereditary multiple exostoses syndrome (AD)

Proximal 11p deletion - Potocki-Shaffer syndrome

22
Q

LMX1B

A

LIM-homeodomain gene

Nail-Patella Syndrome (AD)

23
Q

ABCC9

A 
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
24
Q

FIG4

A

Phosphoinositide phosphate
Regulates 3,5-bisphosphate, autophagy and endosomal trafficking
Yunis-Varon syndrome

Genes (2 decks)

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