Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
72 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
Ichthyosis vulgaris
|
FLG (Filaggrin)
|
|
|
|
X linked recessive ichthyosis
|
STS (Steroid sulfatase deficiency)
|
|
|
|
Bullous congenital ichthyosiform erythroderma (Epidermolytic hyperkeratosis)
|
KRT1 and 10 (Keratins 1 and 10)
|
|
|
|
Ichthyosis bullosa of Siemens
|
KRT2 (Keratin 2)
|
|
|
|
Lamellar ichthyosis
|
- TGM1 (transglutaminase 1)
- ABCA12 (ATP-binding cassette transporter gene) |
|
|
|
Congenital ichthyosiform erythroderma (3 defects)
|
- TGM1 (Transglutaminase 1)
- ALOX12B and ALOXE3 (Arachidonate lipoxygenase) - Ichthyin |
|
|
|
Harlequin fetus
|
ABCA12 (ATP binding cassette)
|
|
|
|
Netherton Syndrome
|
SPINK5 (serine protease inhibitor Kazal-type 5)
|
|
|
|
Sjogren Larson Syndrome
|
FALDH or ALDH3A2 (fatty aldehyde dehydrogenase)
|
|
|
|
Trichothiodystrophy
|
- ERCC2 and 3 (Excision repair cross-complementing)
- GTF2H5 (General transcription factor IIH subunit 5) |
|
|
|
Neutral Lipid Storage disease
|
ABHD5 (1-acylglycerol-3-phosphate O-acyltransferase)
|
|
|
|
Refsum Disease
|
- PHYH or PAHX (phytanoyl-CoA hydroxylase)
- PEX7 (peroxin 7) |
|
|
|
Erythrokeratodermia variabilis
|
GJB3 and 4 (Gap junction beta)
|
|
|
|
Keratitis ichthyosis deafness syndrome
|
GJB2 (gap junction beta)
|
|
|
|
CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
|
NSDHL (NAD(P) dependent steroid dehydrogenase-like)
|
|
|
|
Conradi-Hunermann-Happle syndrome (XLD chondrodysplasia punctata)
|
EBP (emopamil-binding protein)
|
|
|
|
Unna-Thost type (palmoplantar keratoderma) - non-epidermolytic
|
Keratin 1
|
|
|
|
Vorner type palmoplantar keratoderma (epidermolytic)
|
Keratin 9 (and keratin 1)
|
|
|
|
Mal de Meleda
|
SLURP-1 (secreted Ly-6/uPar related protein)
|
|
|
|
Vohwinkle syndrome (mutilating palmpoplantar keratoderma)
|
- GJB2 (gap junction beta)
- Loricrin |
|
|
|
Papillon-Lefevre syndrome (palmoplantar keratoderma with periodontosis)
|
CTSC (Cathepsin C)
|
|
|
|
Naxos disease (Diffuse non epidermolytic PPK with woolly hair and cardiomyopathy)
|
plakoglobin
|
|
|
|
Howel-Evans Syndrome
|
TOC (tylosis with oesophageal cancer)
|
|
|
|
Richner-Hanhart syndrome
|
Tyrosine aminotransferase
|
|
|
|
Pachyonychia congenita type 1
|
Keratin 6a and 16
|
|
|
|
Pachyonychia congenita type 2
|
Keratin 6b and 17
|
|
|
|
Carvajal
|
desmoplakin
|
|
|
|
Oculocutaneous albinism Type 1
|
TYR (tyrosinase)
|
|
|
|
Oculocutaneous albinism type II
|
OCA2 gene ('p gene'). Encodes for which protein.
|
TYRP1 (tyrosinase related protein type 1)
|
|
|
Hermansky Pudlak syndrome Type 1
|
HPS1. Encodes for which protein?
|
Part of biogenesis of lysosome-related organelles complex-3 (BLOC3)
|
|
|
Hermansky-Pudlak Syndrome Type 2
|
AP3B1 (adaptor-related protein complex 3, beta 1 subunit)
|
|
|
|
Chediak-Higashi Syndrome
|
LYST (lysosomal trafficking regulator)
|
|
|
|
Griscelli Syndrome Type 1
|
MYO5A (myosin 5a)
|
|
|
|
Griscelli syndrome Type 2
|
RAB27A (member RAS oncogene family)
|
|
|
|
Waardenburg Syndrome Type 1
|
PAX3 (paired box 3)
|
|
|
|
Waardenburg Syndrome Type 2
|
MITF (microphthalmia-associated transcription factor)
|
|
|
|
Waardenburg Syndrome Type 3
|
PAX3
|
|
|
|
Waardenburg Type 4
|
SOX10 (SRY (sex determining region Y)-box 10) and EDN3 (endothelin 3)
|
|
|
|
Piebaldism
|
C-kit (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)
|
|
|
|
Incontinentia Pigmenti
|
NEMO (NF-kappa Beta essential modulator)
|
|
|
|
LEOPARD Syndrome
|
PTPN1 (protein tyrosine phosphatase, non-receptor type 1)
|
|
|
|
Menkes kinky hair syndrome (Occipital horn syndrome)
|
ATP7A (ATPase, Cu++ transporting, alpha polypeptide)
|
|
|
|
Rubinstein-Taybi Syndrome
|
CREBBP (CREB binding protein)
|
|
|
|
Argininosuccinic aciduria
|
ASL (argininosuccinate lyase)
|
|
|
|
Darier-White Disease (Keratosis follicularis)
|
ATP2A2. Encodes for what?
|
Sarcoendoplasmic reticulum Ca ATPase isoform (Ca++ Pump)
|
|
|
Pachyonychia Congenita
|
K6a and K16
|
|
|
|
Pachyonychia Congenita Type 2
|
K6b and K17
|
|
|
|
X linked recessive dyskeratosis congenita
|
DKC1 (dyskerin)
|
|
|
|
Autosomal dominant dyskeratosis congenita
|
TERC (telomerase RNA component)
|
|
|
|
Hypohidrotic ectodermal dysplasia
|
EDA1 (ectodysplasin)
|
|
|
|
Hidrotic ectodermal dysplasia
|
GJB6. What does it code for?
|
Connexin 30
|
|
|
Ankyloblepharon, ectodermal defects and cleft lip syndrome (AEC syndrome)
|
p63 gene
|
|
|
|
Ectodermal dysplasia, ectrodactyly and cleft lip (EEC syndrome)
|
p63 gene
|
|
|
|
Focal Dermal Hypoplasia
|
PORCN
|
|
|
|
Werner syndrome
|
REQL2. What does it code for?
|
DNA helicase enzyme
|
|
|
Progeria (Hutchinson-Gilford Syndrome)
|
Lamin A
|
|
|
|
Cockayne Syndrome
|
ERCC6 and 8
|
|
|
|
Bloom Syndrome
|
RecQL3. What does it code for?
|
DNA Helicase
|
|
|
Rothmund-Thomson syndrome
|
RecQL4
|
|
|
|
Van der Woude syndrome and Popliteal pterygium syndrome
|
IRF6 (interferon regulatory factor 6)
|
|
|
|
Apert syndrome and Crouzon syndrome
|
FGFR2 (fibroblast growth factor receptor)
|
|
|
|
Cartilage-hair hypoplasia (McKusick-type metaphyseal chondrodysplasia)
|
RMRP (RNA component of mitochondrial RNA processing endoribonuclease)
|
|
|
|
Trichorhinophhalangeal syndrome
|
TRPS1
|
|
|
|
Pseudoxanthoma elasticum
|
ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6)
|
|
|
|
Ehlers-Danlos Syndrome (Classical Type)
|
COL5A1 (50%) and Tenascin X (3%)
|
|
|
|
Ehlers-Danlos Syndrome (Vascular Type)
|
COL3A1
|
|
|
|
Ehlers-Danlos Syndrome (Kyphoscoliosis Type)
|
PLOD Gene (procollagen lysyl 2 oxoglutarate 5 dioxygenase)
|
|
|
|
Ehlers-Danlos Syndrome (Arthrochalsia type)
|
COL1A1 or COL1A2
|
|
|
|
Ehlers-Danlos Syndrome (Dermatosparaxis type)
|
Type I collagen N peptidase gene
|
|
|
|
Marfan Syndrome
|
Fibrillin
|
|
|
|
Homocystinuria
|
CBS gene (cystathionine beta synthase)
|
|
|
|
Cutis Laxa (Autosomal recessive)
|
Fibulin 5 gene
|
|
