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Genes Flashcards

(144 cards)

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1
Q

LEOPARD SYNDROME (Moynahan syndrome)

A

PTPNII - encodes a tyrosine phosphatase Shp2

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2
Q

Lamellar ichthyosis

A

transglutaminase 1

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3
Q

Bloom Syndrome

A

RecQL2, the BLM gene mutation, encodes for DNA helicase

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4
Q

Pseudoxanthoma elasticum

A

ABCC6 gene (ATP-using cell transporter)

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5
Q

Ehlers-Danlos syndrome

A

collagen 5

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6
Q

Tyrosine phosphatase Shp2

A

LEOPARD SYNDROME

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7
Q

Carney Complex (LAMB/NAME) syndrome

A

PRKAR1A gene, AD

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8
Q

Howell-Evans Syndrome

A

envoplakin

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9
Q

Osteogenesis Imperfecta

A

Collagen Type 1 (alpha1 AND alpha2 genes)

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10
Q

Collagen Type 1

A

Osteogenesis Imperfecta

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11
Q

Howell-Evans Syndrome

A

envoplakin

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12
Q

EBS Dowling Meara

A

EB Simplex type (split - basal layer)
AD
K5/K14

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13
Q

Weber-Cockayne

A

Localized EB Simplex
AD
K5/K14

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14
Q

Koebner

A

(Generalized)
EB Simplex
AD
K5/K14

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15
Q

EB Muscular Dystrophy

A

EB Simplex
ONLY AR EBS
Defect: Plectin

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16
Q

EB Mottled Pigmentation

A

EBS

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17
Q

Herliz- type EB

A

(EB Lethalis)
Junctional EB -split at basement membrane (lamina lucida)
AR
Laminin-5 (laminin 332)

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18
Q

Non-Herlitz EB

A

(Generalized Atrophic Benign EB, or GABEB)
JEB
AR
Laminin 5 OR BPAG2(BP180)

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19
Q

dyskerin

A

Dyskeratosis Congenita

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20
Q

Mode of inheritance for Dyskeratosis Congenits

A

XLR!!!!
&
AD

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21
Q

Dyskeratosis Congenita

A

DKC1 gene, which encodes protein dyskerin, which interacts with telemorases

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22
Q

This Genoderm’s dysfunctional protein interacts with telemorases and increases sister chromatid exchanges

A

Dyskeratosis Congenita

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23
Q

EB with gene defect in alpha-6-beta-4 integrin

A

Junctional EB with pyloric atresia

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24
Q

EB Lethalis

A

Laminin 5 (Laminin 332)

*EB Lethalis is also called Herlitz

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25
Other name for EB Herlitz type
EB Lethalis
26
Type of EB caused by a premature termination codon
EB Lethalis (Herlitz)
27
Other name for EB Non-Herlitz
Generalized atrophic benign EB
28
Gene defect in Non Herlitz Junctional EB
Laminin 5 (Laminin 332) OR BP180 (BPAG2)
29
Hay Wells
Ectodermal Dysplasia (Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome) =p63
30
Busche-Ollendorf Syndrome
LEMD3 (MAN1)
31
Inheritance pattern for Buscke-Ollendorf Syndrome?
AD
32
LEMD3
Buschke-Ollendorf Syndrome
33
MAN1
Buscke-Ollendorf Syndrome
34
how many variants of XP are there?
seven complement groups (A-G), and one XP variant
35
defects in proteins encoded in the nucleotide excision repair pathway (NER)
All the XP types (with the exception of XP variant)
36
What is the XP variant mutation?
mutation in the DNA polymerase
37
which type of XP has a mutation in a DNA polymerase? (As opposed to the nucleotide excision pathway)
XP variant
38
Inheritance pattern of XP
AR
39
Familial melanoma
CDK2NA (INK4A)
40
Which chromosome is the PTCHD gene located on?
Chromosome 9q
41
upregulation of which oncogene is found in 50% of SCCs in immunosuppressed pts?
c-myc
42
loss of function of which gene was recently found in 75% of all cutaneous SCCs?
NOTCHED
43
Mutation in Ferguson Smith?
TGFBR1 gene (as a reminder, ferguson smith is multiple KAs syndrome)
44
The most important factor in the development of NMSC is...
skin phenotype!!! (thought it would be sun exposure but no)
45
Most frequent HPV types in EDV
HPV 5&8
46
All of the hereditary fever syndromes (the CAPS kind, or cryopryrin associated) are due to defects in what gene? NOMID/CINCA Muckle wells Familial cold urticaria
NLRP3 (which encodes the protein cryopryin) *new little rheum patients, cryin!
47
What two disorders have mutations in keratin 5?
Dowling Degos & EB simplex with mottled pigmentation
48
DSAP
SART3
49
SART3
DSAP
50
STK11 gene
Peutz-Jeghers Syndrome
51
Peutz-Jeghers Syndrome
STK11 gene
52
a serine threonine kinase
Peutz-Jeghers Sydnrome (STK11)
53
Bannayan-Riley-Ruvalcaba Syndrome
PTEN
54
Defect in lamellar ichthyosis
Transglutaminase 1
55
Bloom syndrome and Rothmund-Thompson both have defects in what cellular product?
DNA helicases
56
What two genoderms have defects in DNA Helicase?
Bloom syndrome and Rothmund Thompson
57
Muehrckes bands
Hypoalbunemia, chemotherapy, CHF! | Transverse white bands parallel to the lunula
58
Transverse white bands parallel to the lunula
Muerkes bands (CHF, hypoalbunemia, chemo)
59
Terry's nails
Proximal 2/3 white nail, distal 1/3 brown/pink Cirrhosis, hypoalbunemia, diabetes, cardiac disease
60
Splinter hemorrhages
Trauma, PSO, endocarditis, vasculitis
61
Which medications can cause onycholysis?
NSAID, PUVA, TCN
62
Trachyonychia
20 nail dystrophy (found in alopecia areata, LP, PSO, eczema)
63
What diseases are trachyonychia found in?
20 nail dystrophy - PSO, LP, AA, eczema
64
Red lunula
COPD, cirrhosis, RA, SLE, cardiac failure, aa, CO poisoning
65
Nail pitting
PSO, AA
66
What are large 2mm pits in the nail called?
Elkonyxis
67
Large 2mm pits in the nails
Elkonyxis
68
Longitudinal ridging and fissuring of the plate
Onychorrhexis (normal with agin), also seen in LP, trauma, repeated wet dry cycles
69
Onychorrhexis
Longitudinal ridging in the nail matrix (normal with age, cause by trauma, LP)
70
Onychomadesis
Detachment of the nail plate from proximal nail fold - shedding of the nail TEN, autoimmune, medications (chemo), trauma
71
What nail finding can you see in TEN?
Onychomadesis
72
Detachment of the nail plate from proximal nail fold
Onychomadiesis
73
"Nail shedding"
Onychomadiesis
74
What conditions and medications do you see onychomadiesis in?
PCN, TEN/SJS, syphilis, pemphigus, radiation, carbamazepine, lithium, doxycycline
75
Photo-onychomadesis is cause by which medication?
Doxycycline
76
Doxycycline can cause what nail condition?
Photo-onychomadiesis
77
Carbamazepine can cause what nail condition?
Onychomadiesis
78
Chemo causes what nail finding
Onychomadiesis (nail shedding) - detachment of the nail plate from the proximal nail fold
79
Transverse lines of entire nail breadth in all nails
Mees lines Arsenic poisoning!
80
Nail finding in arsenic poisoning
Mees lines! | Transverse ridging in all nails full width of nails
81
Mees lines
Arsenic poisoning | Transverse ridging in all nails full breadth of the nail
82
GI polyposis, alopecia, generalized pigmentation, nail dystrophy
Cronkite-Canada Syndrome
83
Cronkite-Canada Syndrome
Nail dystrophy, generalized pigmentation, GI polypoidosis, alopecia
84
Spoon Nails
Iron deficiency | Koilonychia
85
Koilonychia
Iron deficiency, thyroid abnormality (spoon nails)
86
Beau's lines
Severe systemic even (in all nails), or trauma (in one nail) Transverse depression in nail plate surface
87
Terry's nails
Cirrhosis, DM, cardiac disease
88
Yellow nail syndrome
Absent lunula Yellow nails Lymphedema Pleural effusions
89
Absent lunula Yellow nails Lymphedema Pleural effusions
Yellow nail syndrome
90
Absent lunula
Yellow nail syndrome AND Renal failure
91
Hypoplastic nails, triangular lunula
Nail-Patella syndrome (also small knee caps) | Pointed iliac crests
92
Picture of hypoplastic knee caps
Nail patella syndrome
93
What can PUVA do to your nails?
Give you blue lunula
94
EHK mutation
Keratin1, keratin 10
95
Lamellar ichthyosis
TGM1 gene or ABCA12
96
X-linked ichthyosis
STS (steroid sulfatase deficiency, arylsuflstase C)
97
X-Linked ichtyosis
Steroid sulfatase (STS) , arlysulfatase C
98
Lamellar ichthyosis gene defect
TGM1 gene (also ABCA)
99
EHK gene defect
Keratin 1, Keratin 10
100
Gene defect in Sjogren Larsson syndrome
FALDH gene ("fall down" - bc they have spastic dtetraplegia and the corneal white dot opacities)
101
CHILD SYNDROME
NSDHL (NADPH steroid dehydrogenase)
102
CHILD syndrome gene defect
NSDHL (NADPH steroid dehydrogenase-like protein)
103
Conradi-Hunermann-Happle Syndrome
EBP gene | Emopamil-binding proteins = impaired cholesterol synthesis
104
Conradi-Hunermann-Happle syndrome is the XLD form of what genoderm?
Condrodrysplasia Punctata
105
What is the XLD form of Condrodysplasia?
Conradi-Hunermann-Happle syndrome
106
Condrodysplasia Punctata
Arylsulfatase E
107
Rhizomelic Chondrodysplasia punctata
PEX7
108
PEX7
Rhizomelic Chondrodysplasia Punctata
109
EBP gene
Conradi-Hunermann-Happle Syndrome
110
KID Syndrome
GJB2, encodes connexin 26
111
GJB2 gene defect, encoding connexin 26
KID Syndrome. (Konnexin 26)
112
PAHX gene
Refsum
113
Refsum
PAHX, or PEX7
114
PEX7 gene
Refsum
115
Infantile Refsum
PEX1, PEX2, PEX26
116
Darier Disease
ATP2A2
117
ATP2A2
Darier
118
What protein does the mutation in Darier encode?
SERCA2 (sarcoendoplasmic reticulum calcium ATPase), the gene defect is ATP2A2
119
Acral/mucosal melanoma
KIT
120
Uveal melanoma
GNAQ
121
Non-Sun damaged skin melanoma
BRAF
122
Brooke Speigler
CLYD
123
CLYD
Brooke Speigler
124
Acrodermatitis Enteropathica
SLC39A4
125
Mendes de Costa (Erythrokeratodermia Variabilis)
Connexin 31, Connexin 30 (GJB3, GJB4)
126
Gene defect in Lipoid Proteinosis
ECM-1 gene *also gene defect in Lichen Sclerosus
127
What two disorders harbor gene mutations to ECM-1?
Lichen Sclerosus and Lipoid Proteinosis
128
Other gene defect besides PTEN for Cowden syndrome
KILLN
129
KILLN gene
Cowden (also PTEN)
130
Name three disorders with PTEN mutation
Cowden Bannayan-Riley Proteus
131
Gene defect in Werners
Werner (adult progeria) defect is Recql2
132
Gene defect in Progeria (childhood form - Hutchison Gilford)
Laminin A gene (Werner or adult progeria is RecQL2)
133
Lamin A (LNMA)
Hutchison-Gilford Progeria (congenital progeria)
134
#1 plant family causing airborne ACD
Compositae (Asteracea - dandelions, chrysanthemum, sunflower)
135
Mutation in ATP7A
Menkes, XLR
136
Mutation in Menkes
ATP7A, XLR. This is a defect in a copper transporter
137
hHb1, hHb6 gene defect
Monilethrix *note DSG4 in the AR recessive form
138
Mutation in piebaldism
C-KIT
139
Red-heads have this mutation | This mutation increases what ratio related to melanin?
MC1-R gene Increases the phenomelanin:eumelanin ratio which gives the red hair fair skin phenotype and increases the risk of melanoma
140
Gene defect in Proteus
AKT-1 (used to be PTEN)
141
H syndrome
SLC29A3 (encodes a nucleoside transporter)
142
TWIST2 gene
Seitles Syndrome (*setters syndrome - bilateral aplasia cutis, long eyelashes, leonine faces, upward slanting eyebrows, peurto ricans)
143
Name the disease associated with each gene: SLC29A3 SLC39A4 SLC49A2
SLC29A3-H syndrome SLC39A4-Acrodermatitis enteropathica SLC49A2- Vitiligo
144
What syndrome is holocarboxolase deficiency seen in?
Multiple carboxylase deficiency

DERMATOLOGY Premade cards (15 decks)

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