Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Genoderms > genoderms defect flashcards > Flashcards

genoderms defect flashcards

1
Q

Icthyosis Vulgaris

A

Profillagrin

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

X-linked Icthyosis

A

Steroid Sulfatase

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

Epidermolytic Hyperkeratosis

A

Keratins 1 & 10

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

Lamellar Icthyosis

A

Transglutaminase 1 (TGM1)

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

Congenital Icthyosiform Erythroderma

A

Transglutaminase 1 (TGM1) & ALOX 12B (most important)

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

Harlequin Fetus

A

ABCA12

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

Sjogren-Larsson Syndrome

A

Fatty Aldehyde Dehydrogenase (FALDH)

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

Refsum Syndrome

A

PAHX & PEX7

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

Conradi-Hunermann Syndrome

A

Emopamil-Binding Protein (EBP)

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

CHILD Syndrome

A

NSDHL

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

Netherton Syndrome

A

SPINK5

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

Erythrokeratoderma Variabilis

A

GJB3 (Connexin 31) or GJB4 (Connexin 30.3)

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

KID Syndrome

A

GJB2 (Connexin 26)

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

Diffuse Palmoplantar Keratoderma (PPK)

A

Keratins 9 & 1 (Vorner) Keratin 1 (Unna-Thost)

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

Howel-Evans Syndrome

A

Tylosis and oesophageal cancer gene (TOC)

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

Vohwinkel Syndrome

A

GJB2 (Connexin 26-deafness), Loricrin (normal hearing)

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

Mal de Meleda

A

SLURP1

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

Papillon-Lefevre Syndrome

A

CTSC

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

Richner-Hanhart Syndrome

A

Tyrosine aminotransferase

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

Darier Disease

A

ATP2A2

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

Epidermal Nevus Syndrome

A

FGFR3 & PTEN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Oculocutaneous Albinism Type 1

A

tyrosinase (TYR)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Oculocutaneous Albinism Type 2

A

P gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Hermansky-Pudlak Syndrome

A

HPS1 (most common) and AP3B1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Chediak-Higashi Syndrome
LYST
26
Griscelli Syndrome
myosin Va or RAB27a
27
Piebaldism
C-kit
28
Waardenburg Syndrome
Pax3 (Types I and III), MITF (II), SOX1O (IV)
29
Hypomelanosis of Ito
not inherited
30
Incontinentia Pigmenti
NEMO
31
LEOPARD Syndrome
PTPN11
32
Carney Complex
PRKAR1A
33
McCune-Albright Syndrome
GNAS1
34
Neurofibromatosis I
Neurofibromin
35
Neurofibromatosis II
schwannomin/merlin
36
Tuberous Sclerosis
TSC1 (hamartin) or TSC2 (tuberin-more severe)
37
Proteus Syndrome
AKT
38
Beckwith-Wiedemann Syndrome
p57 (aka KIP2)
39
Von Hippel-Lindau Syndrome
VHL tumor suppressor
40
Ataxia-Telangiectasia
ATM
41
Hereditary Hemorrhagic Telangectasia Syndrome
endoglin (HHT1), ALK1 (HHT2)
42
Marfan Syndrome
Fibrillin
43
Cutis Laxa
fibulin 5 (FBLN5-AD or AR), ATP7A (XLR)
44
Pseudoxanthoma Elasticum
ABCC6
45
Osteogenesis Imperfecta
COL1A1 & COL1A2
46
Lipoid Proteinosis
extracellular matrix protein 1 (ECM1)
47
Progeria
Lamin A
48
Werner Syndrome
RECQL2
49
Basal Cell Nevus Syndrome
PTCH1 (PATCHED1)
50
Xeroderma Pigmentosum
Mutations in DNA repair enzymes
51
Muir-Torre Syndrome
MSH1 & MSH2
52
Dyskeratosis Congenita
dyskerin (DKC1) and TERC
53
Gardner Syndrome
APC
54
Peutz-Jeghers Syndrome
serine/threonine kinase 11 (STK11)
55
Cowden Syndrome
PTEN
56
Multiple Endocrine Neoplasia type IIb
RET proto-oncogene
57
Birt-Hogg-Dube Syndrome
BHD encoding folliculin
58
Epidermolysis Bullosa Simplex
Keratins 5 & 14
59
Junctional Epidermolysis Bullosa
LAMA3 LAMB3 LAMC2 (Herlitz), Laminin 5 & COL17A1 (non-herlitz), ITGA6 & ITGAB4 (w/pyloric atresia)
60
Dystrophic Epidermolysis Bullosa
COL7A1 (Type VII collagen)
61
Porphyria Cutanea Tarda (PCT)
Uroporphyrinogen decarboxylase (UROGEN)
62
Variegate Porphyria (VP)
Protoporphyrinogen oxidase (PROTOGEN)
63
Acute intermittent Porphyria (AIP)
Porphobilinogen deaminase (PBG)
64
Hereditary Coproporphyria (HCP)
Coproporphyrinogen oxidase (COPROGEN)
65
Erythropoietic Protoporphyria (EPP)
Ferrochelatase (FECH)
66
Congenital Erythropoietic Porphyria (CEP)
Uroporphyrinogen III synthase (UROGEN III)
67
Hepatoerythropoietic Porphyria (HEP)
Uroporphyrinogen decarboxylase (UROGEN)
68
Bloom Syndrome
RecQL3 helicase
69
Rothmund-Thompson Syndrome
RecQL4 helicase
70
Cockayne Syndrome
ERCC8 (group A), ERCC6 (Group B)
71
Trichothiodystrophy
XPD with ERCC2
72
Wiskott-Aldrich Syndrome
WAS
73
Chronic Granulomatous Disease
gp91-phox (XLR), p67-phox (AR)
74
Severe Combined Immunodeficiency
IL-2 receptor (XLR-most common), adenosine deaminase (AR), JAK3 (AR)
75
Hereditary Angioedema
C1 esterase inhibitor (C1INH)
76
Menkes' Disease
MKN or ATP7A (ecodes copper binding enzyme)
77
Argininosuccinic Aciduria
arginosuccinate lyase (ASL)
78
Monilethrix
basic type II keratin genes (hHb1 and hHb6)
79
Hidrotic Ectodermal Dysplasia
Connexin 30 (GJB6)
80
EEC Syndrome
p63
81
AEC Syndrome
sterile alpha motif (SAM) domain of p63
82
Pachyonychia Congenita
K16 & 6a (type 1), K17 & 6a (type II)
83
Nail-Patella Syndrome
LMX1B
84
Alkaptonuria
homogentisate 1,2dioxygenase (HGO) (Accumulation of homogentistic acid)
85
Niemann-Pick Disease
sphingomyelin phosphodiesterase-1 (SMPD-1) (accumulation of sphingomyelin)
86
Multiple Carboxylase Deficiency
holocarboxylase synthetase (HLCS) and biotinidase (BTD)
87
Phenylketonuria
phenylalanine hydroxylase (PAH) (accumulation of phenylalanine)
88
Wilson's Disease
ATB7B (accumulation of copper)
89
Hemochromatosis
HFE (iron overload)
90
Homocystinuria
cystathionine beta-synthase (CBS) (accumulation of homocysteine)
91
Down Syndrome
trisomy 21
92
Turner Syndrome
XO karyotype
93
Noonan Syndrome
PTPN11 (also associated with LEOPARD)
94
Klinefelter Syndrome
XXY
95
Cornelia de Lange Syndrome
NIPBL
96
Rubinstein-Taybi Syndrome
CREBBP
97
Familial Dysautonomia
IKBKAP

Genoderms (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions