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Dermatology > Gene Mutations > Flashcards

Gene Mutations Flashcards

1
Q

Acrodermatitis Enteropathica

A

SLC39A4

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2
Q

AEC Syndrome (Hay-Wells Syndrome)

A

p63

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3
Q

OCA Type 1

A

Tyrosinase

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4
Q

OCA Type 2

A

P protein

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5
Q

OCA Type 3

A

Tyrosinase-related protein

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6
Q

Albright Hereditary Osteodystrophy

A

GNAS1

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7
Q

Alkaptonuria

A

HGD (homogentisate oxidase)

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8
Q

Ataxia Telangiectasia

A

ATM

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9
Q

Atrichia with Papules

A

HR (Hairless; zinc finger)

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10
Q

Bannayan-Riley Ruvalcaba Syndrome

A

PTEN

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11
Q

Bazex Syndrome

A

Unknown (XL-dominant)

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12
Q

Beare-Stevenson Cutis Gyrata

A

FGFR2

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13
Q

Beckwith-Wiedemann Syndrome

A

CDKN1C (cyclin-dependent kinase inhibitor 1c; aka p57; aka Kip2)

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14
Q

Berardinelli-Seip Syndrome (aka Congenital Generalized Lipodystrophy)

A

BSCL2

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15
Q

Birt-Hogg-Dube Syndrome

A

Folliculin

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16
Q

Bjornstead Syndrome

A

BCS1L

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17
Q

Bloom Syndrome

A

BLM (RECQL3; DNA helicase)

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18
Q

Brooke-Spiegler Syndrome

A

CYLD (cylindromatosis)

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19
Q

Bruton Agammaglobulinemia

A

BTK (XL-recessive)

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20
Q

Buschke-Ollendorf Syndrome

A

LEMD3

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21
Q

Carney Complex

A

PRKAR1alpha

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22
Q

Chediak-Higashi Syndrome

A

LYST

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23
Q

CHILD syndrome

A

EBP (XL-dominant)

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24
Q

Chondrodysplasia Punctata

A

Arylsulfatase E (XL-recessive)

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25
Q

Chondrodysplasia Punctata, Rhizomelic

A

PEX7

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26
Q

Chondrodysplasia PUnctanta, XLD (Conradi-Hunermann-Happle Syndrome)

A

EBP (XL-dominant)

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27
Q

Chronic Granulomatous Disease

A

CYBB; phagocyte NADPH oxidase defect; mostly XL recessive

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28
Q

Citrullinemia

A

ASS (argininosuccinate synthetase, in urea cycle)

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29
Q

Cockayne Syndrome

A

ERCC8, ERCC6

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30
Q

Congenital Contractural Arachnodactyly

A

Fibrillin-2

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31
Q

Congenital Ichthyosiform Erythroderma (Nonbullous CIE)

A

TGM1, ALOX12B, ALOXE3

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32
Q

Cowden Syndrome

A

PTEN

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33
Q

Cutis Laxa (AR)

A

Fibulin 5

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34
Q

Cutis Laxa (AD)

A

Elastin, Fibulin 5

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35
Q

Cutis Laxa (occipital horn syndrome, EDS 1X)

A

ATP7A (XL-recessive)

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36
Q

Darier Disease

A

SERCA2 (ATP2A2)

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37
Q

Dyskeratosis Congenita

A

DKC2 (XL-recessive), TERC

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38
Q

EB Recessive Dystrophic (Hallopeau-Siemens)

A

Type VII Collagen

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39
Q

EB Dominant Dystrophic (Cockayne-Touraine)

A

Type VII Collagen

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40
Q

EB Simplex (Dowling-Meara)

A

K5/14; clumped tonofilaments in basal layer

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41
Q

EB Simplex (Weber-Cockayne)

A

K5/14

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42
Q

EBS w/ Muscular Dystrophy

A

Plectin

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43
Q

EB Junctional (Herlitz)

A

LAMA3 (laminin 332)

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44
Q

EB Junctional (Non-Herlitz)

A

Laminin 322 or BPAG2

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45
Q

EB Junctional w/ Pyloric Atresia

A

alpha6beta4 integrin

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46
Q

Ectodermal Dysplasia w/ Skin Fragility

A

Plakophilin 1 and 2

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47
Q

EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate)

A

p63

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48
Q

Epidermodysplasia Verruciformis

A

EVER1, EVER2

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49
Q

Epidermolytic Hyperkeratosis

A

K1/K10 (clumping of keratin filaments in suprabasal layers)

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50
Q

Erythrokeratodermia Variabilis (Mendes da Costa)

A

GJB3 and GJB4 (connexin 31 and 30.3)

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51
Q

Fabry Disease

A

alpha-galactosidase-A (XL-recessive)

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52
Q

Familial Mediterranean Fever

A

MEFV

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53
Q

Familial Partial Lipodystrophy

A

LMNA (lamins Aand C)

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54
Q

Focal Dermal Hypoplasia (Goltz)

A

POCRN (XL-dominant)

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55
Q

Gardner syndrome

A

APC

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56
Q

Gaucher Disease

A

beta-glucosidase (aka glucocerebrosidase)

57
Q

Gorlin Syndrome

58
Q

Griscelli Syndrome

A

Rab27A; MyO5A

59
Q

Hailey-Hailey Disease

60
Q

Haim-Munk Syndrome

A

Cathepsin C

61
Q

Harlequin Fetus

62
Q

Hartnup Disease

A

SLC6A19 (defective intestinal/renal neutral amino acid transport)

63
Q

Hereditary Angioedema

A

SERPING1 (gene for C1-INH, serine protease inhibitor)

64
Q

Hereditary Congenital Lymphedema

A

VEGFR3 (FLT4)

65
Q

Hereditary Hemorrhagic Telangiectasia

A

ENG (endoglin); ACVRL1 (ALK1)

66
Q

Hermansky-Pudlak Syndrome

A

HPS (lysosomal transport protein)

67
Q

Hidrotic Ectodermal Dysplasia

A

GJB6 (connexin 30; gap junction protein)

68
Q

Holocarboxylase Synthetase Deficiency

69
Q

Homocystinuria

A

CBS (cystathione b-synthetase)

70
Q

Howel-Evans Syndrome

A

TOC (envoplakin)

71
Q

Hunter Syndrome

A

Iduronate-2-sulfatase (XL-recessive)

72
Q

Hurler Syndrome

A

alpha-L-iduronidase

73
Q

Hyper-IgE Syndrome

74
Q

Hypohidrotic Ectodermal Dysplasia (HED)/Anhidrotic Ectodermal Dysplasai

A

EDA (XR), EDAR (AD), NFkB (critical role)

75
Q

Hypohidrotic ED w/ Immunodeficiency

76
Q

Ichthyosis Bullosa of Siemens

77
Q

Ichthyosis, Lamellar

78
Q

Ichthyosis, X-linked

A

STS (steroid sulfatase; XLR)

79
Q

Ichthyosis Vulgaris

80
Q

Incontinentia Pigmenti

A

NEMO (XL-dominant)

81
Q

Kindler Syndrome

A

KIND1 (kindlin-1)

82
Q

KID syndrome (keratitis-ichthyosis-deafness)

A

GJB2 (connexin 26)

83
Q

Leiomyomatosis (Reed Syndrome)

A

FH (fumarate hydratase)

84
Q

LEOPARD Syndrome

A

PTPN11 (protein tyrosine phosphatase non-receptor type 11)

85
Q

Lesh-Nyhan Syndrome

86
Q

Lhermitte-Duclos Syndrome

87
Q

Li-Fraumeni Syndrome

88
Q

Lipoid Proteinosis

89
Q

Lymphedema-Distichiasis Syndrome

90
Q

Maffucci Syndrome

91
Q

Mal de Meleda

A

SLURP1 (transgradient PPK)

92
Q

McCune-Albright

93
Q

MEN1

94
Q

MEN2a

95
Q

MEN2b

96
Q

Menkes Disease

A

MNK (aka ATP7a, copper transporting ATPase)

97
Q

MIDAS Syndrome

98
Q

Monilethrix

A

K86/K81 (human hair keratin hHb6, hHb1)

99
Q

Muckle-Wells Syndrome (urticaria-deafness-amyloidosis)

100
Q

Muir-Torre Syndrome

A

MSH2, MLH1, MSH6

101
Q

Nail-Patella Syndrome

102
Q

Naxos Disease

A

Plakoglobin

103
Q

Neimann-Pick Disease

A

SMPD1 (sphingomyelinase)

104
Q

Netherton Syndrome

A

SPINK5 (LEKTI serine protease inhibitor)

105
Q

Neurofibromatosis 1

A

NF1; Neurofibromin

106
Q

Neurofibromatosis 2

A

NF2 (schwannomin/merlin)

107
Q

Noonan Syndrome

A

PTPN11, KRAS, RAF1, SOS1

108
Q

Occipital Horn Syndrome (X-linked cutis laxa)

A

ATP7A (XLR)

109
Q

Pachyonychia Congenita, Type 1

A

K6/K16; focal PPK/benign oral leukokeratosis/nail dystrophy

110
Q

Pachyonychia Congenita, Type 2

A

K6b/K17; nail dystrophy, steatocystomas, eruptive vellus hair cysts, natal teeth, pili torti

111
Q

PAPA Syndrome

A

CD2BP1 (CD2 binding protein 1)

112
Q

Papillon-Lefevre

A

CTSC (cathepsin C)

113
Q

Peutz-Jeghers Syndrome

A

STK11 (aka LKB1, serine/threonine kinase 11)

114
Q

Phenylketonuria

A

PAH (phenylalanine hydroxylase)

115
Q

PIBIDS

A

ERCC2/XPD (nucleotide excision repair; photosensitivity/ichthyosis/brittle hair/infertility/dev delay/short stature)

116
Q

Piebaldism

117
Q

Porphyria Cutanea Tarda

A

UROD (uroporphyrinogen decarboxylase)

118
Q

Porphyria, Congenital Erythropoietic (Gunther)

A

UROS (uroporphyrinogen III cosynthase)

119
Q

Porphyria, Hereditary Coproporphyria

A

CPO (coproporphyrinogen oxidase)

120
Q

Porphyria, Variegate

A

PPO (protoporphyrinogen oxidase)

121
Q

Porphyria, Acute Intermittent

A

PBD (porphobilinogen deaminase)

122
Q

Porphyria, Erythropoietic Protoporphyria

A

Ferrochelatase

123
Q

Progeria

A

LMNA (nuclear lamins A and C)

124
Q

Pseudoxanthoma Elasticum

125
Q

Refsum Syndrome

A

PHYH (PAHX) or PEX7

126
Q

Richner-Hanhart Syndrome

A

TAT (hepatic tyrosine aminotransferase)

127
Q

Rombo Syndrome

A

? (atrophoderma vermiculatum, BCCs, hypotrichosis)

128
Q

Rothmund-Thomson Syndrome

A

RECQL4 (DNA helicase)

129
Q

Rubinstein-Taybi Syndrome

A

CBP (CREB binding protein)

130
Q

Sjogren-Larrson Syndrome

A

FALDH (fatty aldehyde dehydrogenase, aka ALDH3A2)

131
Q

Trichorhinophalangeal Syndrome

132
Q

Tuberous Sclerosis

A

TSC1 (hamartin)/ TSC2 (tuberin)

133
Q

Uncombable Syndrome/pili trianguli et canaliculi

134
Q

Vohwinkel, Classic

A

GJB2 (connexin 26)

135
Q

Vohwinkel, Variant

136
Q

Waardenburg Syndrome

A

PAX3, MITF, SOX10

137
Q

Werner Syndrome (adult progeria)

A

WRN (aka RECQL2; DNA helicase)

138
Q

Wiskott-Aldrich Syndrome

A

WASP (XLR)

Dermatology (17 decks)

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