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Genoderms > genoderms defect flashcards > Flashcards

genoderms defect flashcards

1
Q

Icthyosis Vulgaris

A

Profillagrin

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2
Q

X-linked Icthyosis

A

Steroid Sulfatase

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3
Q

Epidermolytic Hyperkeratosis

A

Keratins 1 & 10

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4
Q

Lamellar Icthyosis

A

Transglutaminase 1 (TGM1)

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5
Q

Congenital Icthyosiform Erythroderma

A

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

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6
Q

Harlequin Fetus

A

ABCA12

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7
Q

Sjogren-Larsson Syndrome

A

Fatty Aldehyde Dehydrogenase (FALDH)

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8
Q

Refsum Syndrome

A

PAHX & PEX7

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9
Q

Conradi-Hunermann Syndrome

A

Emopamil-Binding Protein (EBP)

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10
Q

CHILD Syndrome

A

NSDHL

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11
Q

Netherton Syndrome

A

SPINK5

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12
Q

Erythrokeratoderma Variabilis

A

GJB3 (Connexin 31) or GJB4 (Connexin 30.3)

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13
Q

KID Syndrome

A

GJB2 (Connexin 26)

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14
Q

Diffuse Palmoplantar Keratoderma (PPK)

A

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

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15
Q

Howel-Evans Syndrome

A

Tylosis and oesophageal cancer gene (TOC)

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16
Q

Vohwinkel Syndrome

A

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

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17
Q

Mal de Meleda

A

SLURP1

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18
Q

Papillon-Lefevre Syndrome

A

CTSC

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19
Q

Richner-Hanhart Syndrome

A

Tyrosine aminotransferase

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20
Q

Darier Disease

A

ATP2A2

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21
Q

Epidermal Nevus Syndrome

A

FGFR3 & PTEN

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22
Q

Oculocutaneous Albinism Type 1

A

tyrosinase (TYR)

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23
Q

Oculocutaneous Albinism Type 2

A

P gene

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24
Q

Hermansky-Pudlak Syndrome

A

HPS1 (most common) and AP3B1

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25
Q

Chediak-Higashi Syndrome

A

LYST

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26
Q

Griscelli Syndrome

A

myosin Va or RAB27a

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27
Q

Piebaldism

A

C-kit

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28
Q

Waardenburg Syndrome

A

Pax3 (Types I and III), MITF (II), SOX1O (IV)

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29
Q

Hypomelanosis of Ito

A

not inherited

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30
Q

Incontinentia Pigmenti

A

NEMO

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31
Q

LEOPARD Syndrome

A

PTPN11

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32
Q

Carney Complex

A

PRKAR1A

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33
Q

McCune-Albright Syndrome

A

GNAS1

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34
Q

Neurofibromatosis I

A

Neurofibromin

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35
Q

Neurofibromatosis II

A

schwannomin/merlin

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36
Q

Tuberous Sclerosis

A

TSC1 (hamartin) or TSC2 (tuberin-more severe)

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37
Q

Proteus Syndrome

A

AKT

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38
Q

Beckwith-Wiedemann Syndrome

A

p57 (aka KIP2)

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39
Q

Von Hippel-Lindau Syndrome

A

VHL tumor suppressor

40
Q

Ataxia-Telangiectasia

A

ATM

41
Q

Hereditary Hemorrhagic Telangectasia Syndrome

A

endoglin (HHT1), ALK1 (HHT2)

42
Q

Marfan Syndrome

A

Fibrillin

43
Q

Cutis Laxa

A

fibulin 5 (FBLN5-AD or AR), ATP7A (XLR)

44
Q

Pseudoxanthoma Elasticum

A

ABCC6

45
Q

Osteogenesis Imperfecta

A

COL1A1 & COL1A2

46
Q

Lipoid Proteinosis

A

extracellular matrix protein 1 (ECM1)

47
Q

Progeria

A

Lamin A

48
Q

Werner Syndrome

A

RECQL2

49
Q

Basal Cell Nevus Syndrome

A

PTCH1 (PATCHED1)

50
Q

Xeroderma Pigmentosum

A

Mutations in DNA repair enzymes

51
Q

Muir-Torre Syndrome

A

MSH1 & MSH2

52
Q

Dyskeratosis Congenita

A

dyskerin (DKC1) and TERC

53
Q

Gardner Syndrome

A

APC

54
Q

Peutz-Jeghers Syndrome

A

serine/threonine kinase 11 (STK11)

55
Q

Cowden Syndrome

A

PTEN

56
Q

Multiple Endocrine Neoplasia type IIb

A

RET proto-oncogene

57
Q

Birt-Hogg-Dube Syndrome

A

BHD encoding folliculin

58
Q

Epidermolysis Bullosa Simplex

A

Keratins 5 & 14

59
Q

Junctional Epidermolysis Bullosa

A

LAMA3 LAMB3 LAMC2 (Herlitz), Laminin 5 & COL17A1 (non-herlitz), ITGA6 & ITGAB4 (w/pyloric atresia)

60
Q

Dystrophic Epidermolysis Bullosa

A

COL7A1 (Type VII collagen)

61
Q

Porphyria Cutanea Tarda (PCT)

A

Uroporphyrinogen decarboxylase (UROGEN)

62
Q

Variegate Porphyria (VP)

A

Protoporphyrinogen oxidase (PROTOGEN)

63
Q

Acute intermittent Porphyria (AIP)

A

Porphobilinogen deaminase (PBG)

64
Q

Hereditary Coproporphyria (HCP)

A

Coproporphyrinogen oxidase (COPROGEN)

65
Q

Erythropoietic Protoporphyria (EPP)

A

Ferrochelatase (FECH)

66
Q

Congenital Erythropoietic Porphyria (CEP)

A

Uroporphyrinogen III synthase (UROGEN III)

67
Q

Hepatoerythropoietic Porphyria (HEP)

A

Uroporphyrinogen decarboxylase (UROGEN)

68
Q

Bloom Syndrome

A

RecQL3 helicase

69
Q

Rothmund-Thompson Syndrome

A

RecQL4 helicase

70
Q

Cockayne Syndrome

A

ERCC8 (group A), ERCC6 (Group B)

71
Q

Trichothiodystrophy

A

XPD with ERCC2

72
Q

Wiskott-Aldrich Syndrome

A

WAS

73
Q

Chronic Granulomatous Disease

A

gp91-phox (XLR), p67-phox (AR)

74
Q

Severe Combined Immunodeficiency

A

IL-2 receptor (XLR-most common), adenosine deaminase (AR), JAK3 (AR)

75
Q

Hereditary Angioedema

A

C1 esterase inhibitor (C1INH)

76
Q

Menkes’ Disease

A

MKN or ATP7A (ecodes copper binding enzyme)

77
Q

Argininosuccinic Aciduria

A

arginosuccinate lyase (ASL)

78
Q

Monilethrix

A

basic type II keratin genes (hHb1 and hHb6)

79
Q

Hidrotic Ectodermal Dysplasia

A

Connexin 30 (GJB6)

80
Q

EEC Syndrome

A

p63

81
Q

AEC Syndrome

A

sterile alpha motif (SAM) domain of p63

82
Q

Pachyonychia Congenita

A

K16 & 6a (type 1), K17 & 6a (type II)

83
Q

Nail-Patella Syndrome

A

LMX1B

84
Q

Alkaptonuria

A

homogentisate 1,2dioxygenase (HGO) (Accumulation of homogentistic acid)

85
Q

Niemann-Pick Disease

A

sphingomyelin phosphodiesterase-1 (SMPD-1) (accumulation of sphingomyelin)

86
Q

Multiple Carboxylase Deficiency

A

holocarboxylase synthetase (HLCS) and biotinidase (BTD)

87
Q

Phenylketonuria

A

phenylalanine hydroxylase (PAH) (accumulation of phenylalanine)

88
Q

Wilson’s Disease

A

ATB7B (accumulation of copper)

89
Q

Hemochromatosis

A

HFE (iron overload)

90
Q

Homocystinuria

A

cystathionine beta-synthase (CBS) (accumulation of homocysteine)

91
Q

Down Syndrome

A

trisomy 21

92
Q

Turner Syndrome

A

XO karyotype

93
Q

Noonan Syndrome

A

PTPN11 (also associated with LEOPARD)

94
Q

Klinefelter Syndrome

A

XXY

95
Q

Cornelia de Lange Syndrome

A

NIPBL

96
Q

Rubinstein-Taybi Syndrome

A

CREBBP

97
Q

Familial Dysautonomia

A

IKBKAP

Genoderms (3 decks)

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