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Board Review 2024 > Genes > Flashcards

Genes Flashcards

1
Q

ATP7A

A

Menkes/ Charcot-Marie-Tooth

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2
Q

PAH

A

Phenylketonuria

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3
Q

FAH

A

Tyrosinemia

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4
Q

BCKDHA, BCKDHB, DBT

A

MSUD

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5
Q

AMT, GLDC, GCSH

A

Nonketotic hyperglycemia

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6
Q

CPS1

A

Carbamoyl-phosphate synthetase 1 deficiency

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7
Q

ASS1

A

Citrullinemia type 1/ Arginosuccinate synthetase deficiency

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8
Q

ASL

A

Arginosuccinate lyase deficiency

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9
Q

MMUT, MMAA, MMAB, MMADHC, MCEE

A

methylmalonic acidemia

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10
Q

PCCA, PCCB

A

Propionic acidemia

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11
Q

CBS

A

Homocystinuria

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12
Q

NAGS

A

N-acetylglutamate synthetase deficiency

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13
Q

IVD

A

Isovaleric acidemia

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14
Q

OTC

A

Ornithine transcarbamylase deficiency

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15
Q

ARG1

A

Arginase deficiency

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16
Q

BTD

A

Biotinidase deficiency

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17
Q

GCDH

A

Glutaric acidemia type 1

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18
Q

GALT

A

Classic and clinical variant galactosemia

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19
Q

GALK1

A

galactokinase deficiency (galactosemia type 2)

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20
Q

GALE

A

Epimerase deficiency galactosemia/ GALE deficiency galactosemia

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21
Q

ALDOB

A

Hereditary fructose intolerance (fructosemia)

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22
Q

KHK

A

Fructokinase deficiency

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23
Q

FBP1

A

Fructose 1,6 Bisphosphatase deficiency

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24
Q

G6PC1, SLC37A4

A

Glycogen storage disease type 1 (Von Gierke)

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25
Q

GAA

A

Glycogen storage disease type 2

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26
Q

PYGM

A

Glycogen storage disease type 5 (McArdle)

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27
Q

SLC2A1

A

GLUT1 deficiency

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28
Q

SLC22A5

A

Primary carnitine deficiency (OCTN2 deficiency)

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29
Q

CPT1A

A

Carnitine palmitoyltransferase 1A deficiency

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30
Q

ACADVL

A

VLCAD deficiency

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31
Q

ACADM

A

MCAD deficiency

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32
Q

ACADS

A

SCAD deficiency

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33
Q

HADHA; HADHB

A

LCHAD/TFP deficiency

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34
Q

MT-TL1, MT-NDS

A

MELAS

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35
Q

MT-TK

A

MERRF

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36
Q

MT-ND4, MT-ND6, MT-ND1

A

LHON

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37
Q

DLAT, DLD, PDHA1, PDHB, PDHX, PDP1, PDK3

A

Pyruvate dehydrogenase complex deficiency

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38
Q

MT-ATP6

A

Leigh syndrome/ NARP

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39
Q

GLA

A

Fabry

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40
Q

GBA1

A

Gaucher

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41
Q

SMPD1

A

Niemann-Pick (infantile neurovisceral ASMD, chronic neurovisceral, chronic visceral ASMD)

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42
Q

HEXA

A

Tay-sachs

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43
Q

IUDA

A

MPS I

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44
Q

IDS

A

MPS II

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45
Q

GALC

A

Krabbe

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46
Q

ARSA

A

Metachromatic leukodystrophy (Arylsulfatase A enzyme deficiency)

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47
Q

SGSH, NAGLU, NGSNAT, GNS

A

MPS III

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48
Q

GALNS

A

MPS IV

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49
Q

ABCD1

A

XALD

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50
Q

PEX6, PEX1, other PEX related genes (13 in total)

A

Zellweger spectrum disorder

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51
Q

NSDHL

A

CHILD syndrome/CK syndrome

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52
Q

DHCR7

A

SLO

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53
Q

NPC1, NPC2

A

Niemann Pick Type C

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54
Q

APOE

A

familial dyslipidemia/hyperlipidemia

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55
Q

LPL

A

Familial LPL deficiency

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56
Q

APOB

A

Familial hypobetalipoproteinemia OR Familial hypercholesterolemia (if PV is a missense and impairs LDL receptor binding activity)

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57
Q

ATP7B

A

Wilson Dz

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58
Q

HFE

A

Hemochromatosis

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59
Q

HMBS

A

Acute Intermittent Porphyria

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60
Q

UROD

A

Familial porphyria cutanea tarda

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61
Q

PMM2

A

PMM2 (phosphomannomutase 2) - CDG

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62
Q

HPRT1

A

Lesch-Nyhan syndrome

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63
Q

GCH1, PTS, QDPR, PCBD1

A

BH4 deficiency

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64
Q

FMO3

A

Trimethylaminuria

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65
Q

del of 4p16.3

A

Wolf Hirschhorn

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66
Q

del of 5p15.2, 5p15.3

A

Cri Du Chat

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67
Q

del of 1p36.13-1p36.33

A

1p36 del syndrome

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68
Q

22q11.2, TBX1, DGCR8, CRKL, SNAP29, PRODH

A

22q11.2 del

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69
Q

7q11.23, ELN, LIMK1, GTF2I, GTF2IRD1, NCF1, STX1A, MLXIPL, BAZ1B, CLIP2

A

Williams syndrome

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70
Q

17q11.2 RAI1

A

Smith Magenis

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71
Q

15q11.2-q13; SNURF-SNRPN, SNORD116

A

PWS

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72
Q

15q11.2-q13; UBE3A

A

AS

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73
Q

OCA2

A

Oculocutaneous albinism type 2

also found in PWS/AS Critical regions (15q11.2-q13) and is responsible for the light pigmentation in these individuals

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74
Q

CTG repeats in DMPK

A

Myotonic dystrophy type 1

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75
Q

CCTG repeats in CNBP

A

Myotonic dystrophy type 2

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76
Q

Shortening of D4Z4 region on chrom 4

A

Fascioscapulohumeral muscular dystrophy type 1

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77
Q

SMCHD1

A

Fascioscapulohumeral muscular dystrophy type 2

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78
Q

NOTCH3

A

CADISL (cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy)

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79
Q

del of 11p13

A

WAGR syndrome

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80
Q

del of 11q

A

Jacobsen syndrome

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81
Q

PMP22/ 1.5Mb del of 17p12

A

Hereditary neuropathy with liability to pressure palsies

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82
Q

16p11.2 del, PRRT2

A

16p11.2 del syndrome

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83
Q

17q21.31 del; PV in KANSL1

A

Koolen de Vries syndrome

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84
Q

NSD1; 5q35del

A

Sotos syndrome

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85
Q

tetrasomy 22pter-22q11

A

Cat eye syndrome

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86
Q

tetrasomy 12p

A

Pallister Killian syndrome

87
Q

triploidy 17p11.2

A

Potocki-Lupski syndrome

88
Q

triploidy 17p11.2 of PMP22

A

CMT (hereditary motor and sensory neuropathies)

89
Q

dup of MECP2

A

MECP2 duplication syndrome

90
Q

TCOF1, POLR1D, POLR1B, POLR1C (AR), del of 5q32-q33.1

A

Treacher Collins

91
Q

11p15.5; CDKN1C, KCNQ1, IGF2, H19

92
Q

11p15.5; upd(7) mat, upd (11)mat, upd(16)mat; IGF2, CDKN1C, PLAG1, HMGA2

A

Silver Russel syndrome

93
Q

BMPR1A, SMAD4

A

Juvenile polyposis syndrome

94
Q

STK11

A

Peutz-Jehger syndrome

95
Q

CDNK2A

A

Familial atypical multiple mole melanoma pancreatic carcinoma syndrome (FAMMM)

96
Q

PRKAR1A

A

Carney complex/carney syndrome

97
Q

FLCN

A

Birt-Hogg-Dube syndrome

98
Q

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

A

Xeroderma Pigmentosum

99
Q

MEN1

A

Multiple Endocrine Neoplasia Type 1

100
Q

RET

A

MEN2A/FMTC/MEN2B

101
Q

MAX, SDHA, SDHFA2, SDHB, SDHC, SDHD, TMEM127

A

hereditary PGL/PCC

102
Q

VHL

A

Von Hippel Lindau

103
Q

RB1

A

Hereditary retinoblastoma

104
Q

FH

A

hereditary leiomyomatosis and renal cell cancer

105
Q

TSC1, TSC2

A

tuberous sclerosis complex

106
Q

BRCA1, BRCA2, BRIP1, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, REV7, RFWD3, SLX4, UBE2T, XRCC2

A

Fanconi Anemia

107
Q

MUTYH

A

MUTYH-associated polyposis

108
Q

BLM

A

Bloom syndrome

109
Q

NBN

A

Nijmegen breakage syndrome

110
Q

HBA1, HBA2

A

Alpha thal

111
Q

HBB

A

Beta thal, Hemoglobin C, SCD

112
Q

G6PD

A

G6PD deficiency

113
Q

F8

A

Hemophilia A

114
Q

F9

A

Hemophilia B

115
Q

F5

A

Factor V Leiden

116
Q

PROC

A

Protein C deficiency

117
Q

BRAF, KRAS, LZTR1, MAP2K1, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SOS1, SOS2

A

Noonan syndrome

118
Q

CHD7

A

CHARGE syndrome

119
Q

TFAP2B

A

Char syndrome

120
Q

VWF

A

von Willebrand dz

121
Q

MYBPC3, MYH7, TNNI3, TNNT2

122
Q

TTN, LMNA, MYH7, FLNC, JPH2 (AR), TNNI3 (AR)

123
Q

RYR2, CALM1, CALM2, CALM3, CASQ2, KCNJ1, TECTRL, TRDN

124
Q

PKP2, DSG2, DSP, DSC2

A

Arrhythmogenic Right Ventricular Cardiomyopathy

125
Q

KCNQ1

A

Type 2 LQTS

126
Q

KCNH2

A

Type 1 LQTS

127
Q

SCN5A

A

Type 3 LQTS

128
Q

KCNQ1 and KCNE1

A

Jervell and Lange-Nielsen

129
Q

CACNA1C

A

Timothy syndrome (LQTS type 8)

130
Q

KCNJ2/KCNJ5

A

Andersen Tawil syndrome

131
Q

FBN1

A

Marfan syndrome

132
Q

COL5A1, COL5A2, and COL1A1 PV p.934C>T

A

classic EDS

133
Q

COL3A1

A

vascular EDS (type IV)

134
Q

LDLR, APOB, PCSK9, LDLRAP1

A

Familial hypercholesterolemia

135
Q

PKHD1

136
Q

PKD1, PKD2, ALG5, ALG9, DNAJB11, GANAB, IFT140

137
Q

SHH genes

A

Nonsyndromic holoprosencephaly

138
Q

POMT1, POMT, FKTN, FKRP, LARGE, POMGNT1, COL4A1

A

Walker Warburg

139
Q

AHI1, CPLANE1, CC2D2A, CEP290, CSPP1, INPP5E, KIAA0586, MKS1, NPHP1, RPGRIP1L, TCTN2, TMEM67, TMEM216, OFD1 (XLR)

A

Joubert syndrome

140
Q

FMR1 5-44 repeats

A

normal range fragile X

141
Q

FMR1 45-54 repeats

A

intermediate range fragile X

142
Q

FMR1 55-200 repeats

A

premutation range fragile X

143
Q

FMR1 >200 repeats

A

full mutation range fragile X

144
Q

LIS1, RELN, DCX, ARX

A

isolated lissencephaly

145
Q

MECP2

A

Rett syndrome

146
Q

APP/PSEN1/PSEN2

A

Early onset familial Alzheimer’s Disease

147
Q

HTT

A

Huntington dz

148
Q

FXN

A

Friedreich ataxia

149
Q

C9orf72, SOD1, FUS, TARDBP

A

Amyotrophic Lateral Sclerosis (Lou Gehrig dz)

150
Q

GBA1, LRRK2, PARK7, PINK1, PRKN
(AR) ATP13A2, DNAJC6

A

Early onset Parkinson dz; (AR) Juvenile Parkinson dz

151
Q

CGG repeats

152
Q

CAG repeats

A

Huntington

153
Q

GAA repeats

A

Friedreich ataxia

154
Q

GGGGCC repeats

155
Q

CTG repeats

A

Myotonic dystrophy type 1

156
Q

DMPK

A

myotonic dystrophy type 1

157
Q

CNBP

A

Myotonic dystrophy type 2

158
Q

CCTG repeats

A

myotonic dystrophy type 2

159
Q

out of frame DMD del

160
Q

in frame DMD del

161
Q

SMN1/SMN2

162
Q

FGFR3, p.Lys650Glu

A

Thanatophoric Dysplasia

163
Q

CCDC39, CCDC40, DNAH5, DNAH11, HNAI1, FOXJ1 (AR), PIH1D3 (XLR), OFD1 (XLR)

A

Primary ciliary dyskinesia

164
Q

SERPINA1

A

alpha 1 antitrypsin deficiency

165
Q

COL1A1, COL1A2

166
Q

FGFR3, p.Gly380Arg

A

Achondroplasia

167
Q

FGFR3, p.Asn540Lys

A

Hypochondroplasia

168
Q

SOX9; interstitial del/reciprocal t of 17q24.3-q25.1

A

Campomelic dysplasia

169
Q

RUNX2

A

Cleidocranial dysplasia

170
Q

GCK, HNF1A, HNF4A, HNF1B

171
Q

CYP21A2

172
Q

AR

A

Androgen insensitivity syndrome

173
Q

SRD5A2

A

5-alpha reductase deficiency

174
Q

Yq del including AZF, USP9Y

A

Y chromosome infertility

175
Q

ANOS1/FGFR1

A

Kallman syndrome

176
Q

IRF6

A

Van der Woude

177
Q

EYA1, SIX1, SIX5

A

branchiootorenal spectrum disorder

178
Q

PTCH1, SUFU

A

Gorlin syndrome

179
Q

FGFR2 p.Ser252Trp, p.Pro253Arg, and p.Ser252Phe

A

Apert syndrome

180
Q

FGFR2

181
Q

FGFR1, FGFR2

182
Q

TWIST1

A

Saethre Chotzen

183
Q

RAB23, MEGF8

A

Carpenter syndrome

184
Q

NF2

185
Q

PAX3

A

Waardenburg type 1 and 3

186
Q

MITF

A

Waardenburg type 2

187
Q

EDRNB

A

Waardenburg type 4

188
Q

TYR

A

oculocutaneous albinism type 1

189
Q

GPC3

A

Simpson Golabai Behmel

190
Q

SLC26A2

A

Diastrophic dysplasia

191
Q

ALPL

A

Hypophosphatasia

192
Q

WT1

A

Denys Drash and Frasier syndrome

193
Q

MYO7A, USH2A

A

Usher syndrome

194
Q

COL4A genes

A

Alport syndrome

195
Q

SLC26A4

196
Q

OFD1

A

Orofacialdigital syndrome

197
Q

ERCC6/8

A

Cockayne syndrome

198
Q

WRN

A

Werner syndrome

199
Q

FGD1

A

Aarskog syndrome

200
Q

JAG1

A

Alagille syndrome

201
Q

RPS6KA3

A

Coffin-Lowry

202
Q

ELP1/IKBAP

A

Familial dysautonomia

203
Q

MEFV

204
Q

ACVRL1, ENG, SMAD4

205
Q

TBX5

206
Q

IKBKG

A

Incontinentia pigmenti

207
Q

KMT2D

208
Q

GNAS

A

McCune Albright

209
Q

LMNA

210
Q

GNAQ

A

Sturge Weber

211
Q

CREBBP, EP300

A

Rubenstein-Taybi

212
Q

RBMA8

213
Q

CAG repeats in ATXN

A

spinocerebellar ataxia

Board Review 2024 (29 decks)

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