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