Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

genoderm mutations > Disorders of Cornification > Flashcards

Disorders of Cornification Flashcards

1
Q

arrhythmogenic right ventricular dysplasia/cardiomyopathy (4 genes)

A

desmocollin 2, desmoglein 2, plakophilin 2, plakoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

hypotrichosis and recurrent skin vesicles

A

desmocollin 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

striate PPK (2)

A

desmoglein 1, desmoplakin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

localized AR hypotrichosis

A

desmoglein 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

AR monilethrix

A

desmoglein 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

carvajal syndrome

A

desmoplakin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

skin fragility/wooly hair syndrome

A

desmoplakin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Naxos disease

A

plakoglobin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

EBS skin fragility-ectodermal dysplasia

A

plakophilin 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

hypotrichosis simplex of the scalp

A

corneodesmosin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

epidermolytic ichthyosis, annular epidermolytic ichthyosis

A

keratin 1, 10

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

icthyosis hystrix of Curth-Macklin

A

keratin 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

ichthyosis bullosa of Siemens

A

keratin 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

epidermolytic PPK (Vorner)

A

keratin 1, 9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

non-epidermolytic PPK (Unna-Thost)

A

keratin 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

white sponge nevus

A

keratin 4, 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

EBS (Dowling-Meara, Koebner, Weber-Cockayne, with mottled pigmentation)

A

keratin 5, 14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

EBS with migratory circinate erythema

A

keratin 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

EBS, AR type; Naegeli-Fraceschetti-Jadassohn syndrome; dermatopathia pigmentosa reticularis

A

keratin 14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Dowling-Degos disease

A

keratin 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

PC1 Jadassohn-Lewandowsky

A

keratin 6a, 16

22
Q

PC2 Jackson-Lawlor

A

keratin 6b, 17

23
Q

steatocystoma multiplex

A

keratin 17

24
Q

AD monilethrix

A

keratin 81, 83, 86

25
Q

pure hair-nail type ectodermal dysplasia

A

keratin 85

26
Q

Vohwinkel syndrome

A

loricrin

27
Q

progressive symmetric erythrokeratoderma

A

loricrin

28
Q

ichthyosis vulgaris/atopic derm

A

filaggrin

29
Q

x-linked ichthyosis

A

steroid sulfatase

30
Q

lamellar ichthyosis, congenital ichthyosiform erythroderma

A

transglutaminase-1

31
Q

harlequin ichthyosis

A

ABCA12

32
Q

Sjogren-Larsson Syndrome

A

FALDH

33
Q

Refsum Syndrome

A

phytanoyl coenzyme A hydroxylase

34
Q

Conradi-Hunermann Syndrome

A

emopamil-binding protein

35
Q

CHILD Syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)

A

NSDHL

36
Q

Netherton Syndrome

A

SPINK5

37
Q

Keratosis-Ichthyosis-Deafness

A

GJB2

38
Q

Oculo-Dento-Digital Dysplasia

A

GJA1

39
Q

Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) Syndrome

A

MBTPS2

40
Q

Neutral Lipid Storage Disease

A

CGI-58

41
Q

Darier’s

A

ATP2A2

42
Q

Hailey-Hailey Disease

A

ATP2C1

43
Q

Mal de Meleda

A

SLURP-1

44
Q

KLICK Syndrome (Keratosis linearis with ichthyosis congenita and sclerosing keratoderma)

A

POMP

45
Q

Olmsted syndrome

A

TRPV3

46
Q

Papillon-Lefevre Syndrome, Haim-Munk Syndrome

A

cathepsin C

47
Q

Howel-Evans Syndrome

A

TOC

48
Q

Huriez Syndrome (Sclerotylosis)

A

TYS

49
Q

Schopf-Schultz-Passarge Syndrome

A

WNT10A

50
Q

Bart-Pumphrey Syndrome

A

GJB2

51
Q

Richner-Hanhart

A

hepatic tyrosine aminotransferase

genoderm mutations (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions