Gene Mutations Flashcards
(138 cards)
1
Q
Acrodermatitis Enteropathica
A
SLC39A4
2
Q
AEC Syndrome (Hay-Wells Syndrome)
A
p63
3
Q
OCA Type 1
A
Tyrosinase
4
Q
OCA Type 2
A
P protein
5
Q
OCA Type 3
A
Tyrosinase-related protein
6
Q
Albright Hereditary Osteodystrophy
A
GNAS1
7
Q
Alkaptonuria
A
HGD (homogentisate oxidase)
8
Q
Ataxia Telangiectasia
A
ATM
9
Q
Atrichia with Papules
A
HR (Hairless; zinc finger)
10
Q
Bannayan-Riley Ruvalcaba Syndrome
A
PTEN
11
Q
Bazex Syndrome
A
Unknown (XL-dominant)
12
Q
Beare-Stevenson Cutis Gyrata
A
FGFR2
13
Q
Beckwith-Wiedemann Syndrome
A
CDKN1C (cyclin-dependent kinase inhibitor 1c; aka p57; aka Kip2)
14
Q
Berardinelli-Seip Syndrome (aka Congenital Generalized Lipodystrophy)
A
BSCL2
15
Q
Birt-Hogg-Dube Syndrome
A
Folliculin
16
Q
Bjornstead Syndrome
A
BCS1L
17
Q
Bloom Syndrome
A
BLM (RECQL3; DNA helicase)
18
Q
Brooke-Spiegler Syndrome
A
CYLD (cylindromatosis)
19
Q
Bruton Agammaglobulinemia
A
BTK (XL-recessive)
20
Q
Buschke-Ollendorf Syndrome
A
LEMD3
21
Q
Carney Complex
A
PRKAR1alpha
22
Q
Chediak-Higashi Syndrome
A
LYST
23
Q
CHILD syndrome
A
EBP (XL-dominant)
24
Q
Chondrodysplasia Punctata
A
Arylsulfatase E (XL-recessive)
25
Chondrodysplasia Punctata, Rhizomelic
PEX7
26
Chondrodysplasia PUnctanta, XLD (Conradi-Hunermann-Happle Syndrome)
EBP (XL-dominant)
27
Chronic Granulomatous Disease
CYBB; phagocyte NADPH oxidase defect; mostly XL recessive
28
Citrullinemia
ASS (argininosuccinate synthetase, in urea cycle)
29
Cockayne Syndrome
ERCC8, ERCC6
30
Congenital Contractural Arachnodactyly
Fibrillin-2
31
Congenital Ichthyosiform Erythroderma (Nonbullous CIE)
TGM1, ALOX12B, ALOXE3
32
Cowden Syndrome
PTEN
33
Cutis Laxa (AR)
Fibulin 5
34
Cutis Laxa (AD)
Elastin, Fibulin 5
35
Cutis Laxa (occipital horn syndrome, EDS 1X)
ATP7A (XL-recessive)
36
Darier Disease
SERCA2 (ATP2A2)
37
Dyskeratosis Congenita
DKC2 (XL-recessive), TERC
38
EB Recessive Dystrophic (Hallopeau-Siemens)
Type VII Collagen
39
EB Dominant Dystrophic (Cockayne-Touraine)
Type VII Collagen
40
EB Simplex (Dowling-Meara)
K5/14; clumped tonofilaments in basal layer
41
EB Simplex (Weber-Cockayne)
K5/14
42
EBS w/ Muscular Dystrophy
Plectin
43
EB Junctional (Herlitz)
LAMA3 (laminin 332)
44
EB Junctional (Non-Herlitz)
Laminin 322 or BPAG2
45
EB Junctional w/ Pyloric Atresia
alpha6beta4 integrin
46
Ectodermal Dysplasia w/ Skin Fragility
Plakophilin 1 and 2
47
EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate)
p63
48
Epidermodysplasia Verruciformis
EVER1, EVER2
49
Epidermolytic Hyperkeratosis
K1/K10 (clumping of keratin filaments in suprabasal layers)
50
Erythrokeratodermia Variabilis (Mendes da Costa)
GJB3 and GJB4 (connexin 31 and 30.3)
51
Fabry Disease
alpha-galactosidase-A (XL-recessive)
52
Familial Mediterranean Fever
MEFV
53
Familial Partial Lipodystrophy
LMNA (lamins Aand C)
54
Focal Dermal Hypoplasia (Goltz)
POCRN (XL-dominant)
55
Gardner syndrome
APC
56
Gaucher Disease
beta-glucosidase (aka glucocerebrosidase)
57
Gorlin Syndrome
PTCH
58
Griscelli Syndrome
Rab27A; MyO5A
59
Hailey-Hailey Disease
ATP2C1
60
Haim-Munk Syndrome
Cathepsin C
61
Harlequin Fetus
ABCA12
62
Hartnup Disease
SLC6A19 (defective intestinal/renal neutral amino acid transport)
63
Hereditary Angioedema
SERPING1 (gene for C1-INH, serine protease inhibitor)
64
Hereditary Congenital Lymphedema
VEGFR3 (FLT4)
65
Hereditary Hemorrhagic Telangiectasia
ENG (endoglin); ACVRL1 (ALK1)
66
Hermansky-Pudlak Syndrome
HPS (lysosomal transport protein)
67
Hidrotic Ectodermal Dysplasia
GJB6 (connexin 30; gap junction protein)
68
Holocarboxylase Synthetase Deficiency
HLCS
69
Homocystinuria
CBS (cystathione b-synthetase)
70
Howel-Evans Syndrome
TOC (envoplakin)
71
Hunter Syndrome
Iduronate-2-sulfatase (XL-recessive)
72
Hurler Syndrome
alpha-L-iduronidase
73
Hyper-IgE Syndrome
STAT3
74
Hypohidrotic Ectodermal Dysplasia (HED)/Anhidrotic Ectodermal Dysplasai
EDA (XR), EDAR (AD), NFkB (critical role)
75
Hypohidrotic ED w/ Immunodeficiency
NEMO
76
Ichthyosis Bullosa of Siemens
K2E
77
Ichthyosis, Lamellar
TGM1
78
Ichthyosis, X-linked
STS (steroid sulfatase; XLR)
79
Ichthyosis Vulgaris
Fillagrin
80
Incontinentia Pigmenti
NEMO (XL-dominant)
81
Kindler Syndrome
KIND1 (kindlin-1)
82
KID syndrome (keratitis-ichthyosis-deafness)
GJB2 (connexin 26)
83
Leiomyomatosis (Reed Syndrome)
FH (fumarate hydratase)
84
LEOPARD Syndrome
PTPN11 (protein tyrosine phosphatase non-receptor type 11)
85
Lesh-Nyhan Syndrome
HGPRT
86
Lhermitte-Duclos Syndrome
PTEN
87
Li-Fraumeni Syndrome
p53
88
Lipoid Proteinosis
ECM2
89
Lymphedema-Distichiasis Syndrome
FOXC2
90
Maffucci Syndrome
?PTHR1
91
Mal de Meleda
SLURP1 (transgradient PPK)
92
McCune-Albright
GNAS1
93
MEN1
MEN1
94
MEN2a
RET
95
MEN2b
RET
96
Menkes Disease
MNK (aka ATP7a, copper transporting ATPase)
97
MIDAS Syndrome
HCCS
98
Monilethrix
K86/K81 (human hair keratin hHb6, hHb1)
99
Muckle-Wells Syndrome (urticaria-deafness-amyloidosis)
CIAS1
100
Muir-Torre Syndrome
MSH2, MLH1, MSH6
101
Nail-Patella Syndrome
LMX1B
102
Naxos Disease
Plakoglobin
103
Neimann-Pick Disease
SMPD1 (sphingomyelinase)
104
Netherton Syndrome
SPINK5 (LEKTI serine protease inhibitor)
105
Neurofibromatosis 1
NF1; Neurofibromin
106
Neurofibromatosis 2
NF2 (schwannomin/merlin)
107
Noonan Syndrome
PTPN11, KRAS, RAF1, SOS1
108
Occipital Horn Syndrome (X-linked cutis laxa)
ATP7A (XLR)
109
Pachyonychia Congenita, Type 1
K6/K16; focal PPK/benign oral leukokeratosis/nail dystrophy
110
Pachyonychia Congenita, Type 2
K6b/K17; nail dystrophy, steatocystomas, eruptive vellus hair cysts, natal teeth, pili torti
111
PAPA Syndrome
CD2BP1 (CD2 binding protein 1)
112
Papillon-Lefevre
CTSC (cathepsin C)
113
Peutz-Jeghers Syndrome
STK11 (aka LKB1, serine/threonine kinase 11)
114
Phenylketonuria
PAH (phenylalanine hydroxylase)
115
PIBIDS
ERCC2/XPD (nucleotide excision repair; photosensitivity/ichthyosis/brittle hair/infertility/dev delay/short stature)
116
Piebaldism
KIT
117
Porphyria Cutanea Tarda
UROD (uroporphyrinogen decarboxylase)
118
Porphyria, Congenital Erythropoietic (Gunther)
UROS (uroporphyrinogen III cosynthase)
119
Porphyria, Hereditary Coproporphyria
CPO (coproporphyrinogen oxidase)
120
Porphyria, Variegate
PPO (protoporphyrinogen oxidase)
121
Porphyria, Acute Intermittent
PBD (porphobilinogen deaminase)
122
Porphyria, Erythropoietic Protoporphyria
Ferrochelatase
123
Progeria
LMNA (nuclear lamins A and C)
124
Pseudoxanthoma Elasticum
ABCC6
125
Refsum Syndrome
PHYH (PAHX) or PEX7
126
Richner-Hanhart Syndrome
TAT (hepatic tyrosine aminotransferase)
127
Rombo Syndrome
? (atrophoderma vermiculatum, BCCs, hypotrichosis)
128
Rothmund-Thomson Syndrome
RECQL4 (DNA helicase)
129
Rubinstein-Taybi Syndrome
CBP (CREB binding protein)
130
Sjogren-Larrson Syndrome
FALDH (fatty aldehyde dehydrogenase, aka ALDH3A2)
131
Trichorhinophalangeal Syndrome
TRPS-1
132
Tuberous Sclerosis
TSC1 (hamartin)/ TSC2 (tuberin)
133
Uncombable Syndrome/pili trianguli et canaliculi
?
134
Vohwinkel, Classic
GJB2 (connexin 26)
135
Vohwinkel, Variant
Loricrin
136
Waardenburg Syndrome
PAX3, MITF, SOX10
137
Werner Syndrome (adult progeria)
WRN (aka RECQL2; DNA helicase)
138
Wiskott-Aldrich Syndrome
WASP (XLR)
