Genes Flashcards Preview

DERMATOLOGY > Genes > Flashcards

Flashcards in Genes Deck (147)
Loading flashcards...
1

LEOPARD SYNDROME (Moynahan syndrome)

PTPNII - encodes a tyrosine phosphatase Shp2

2

Lamellar ichthyosis

transglutaminase 1

3

Bloom Syndrome

RecQL2, the BLM gene mutation, encodes for DNA helicase

4

Pseudoxanthoma elasticum

ABCC6 gene (ATP-using cell transporter)

5

Ehlers-Danlos syndrome

collagen 5

6

Tyrosine phosphatase Shp2

LEOPARD SYNDROME

7

Carney Complex (LAMB/NAME) syndrome

PRKAR1A gene, AD

8

Howell-Evans Syndrome

envoplakin

9

Osteogenesis Imperfecta

Collagen Type 1 (alpha1 AND alpha2 genes)

10

Collagen Type 1

Osteogenesis Imperfecta

11

Howell-Evans Syndrome

envoplakin

12

EBS Dowling Meara

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

13

Weber-Cockayne

Localized EB Simplex
AD
K5/K14

14

Koebner

(Generalized)
EB Simplex
AD
K5/K14

15

EB Muscular Dystrophy

EB Simplex
ONLY AR EBS
Defect: Plectin

16

EB Mottled Pigmentation

EBS

17

Herliz- type EB

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

18

Non-Herlitz EB

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

19

dyskerin

Dyskeratosis Congenita

20

Mode of inheritance for Dyskeratosis Congenits

XLR!!!!
&
AD

21

Dyskeratosis Congenita

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

22

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

Dyskeratosis Congenita

23

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

Junctional EB with pyloric atresia

24

EB Lethalis

Laminin 5 (Laminin 332)

*EB Lethalis is also called Herlitz

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)