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92 Cards in this Set
- Front
- Back
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atrichia with papules (alopecia universalis)
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hairless gene (zinc finger)
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OCA1
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tyrosinase (melanin pathway)
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OCA2
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P gene
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Alkaptonuria
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homogentisic acid oxidase (phenylalanine and tyrosine breakdown pathway)
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Hereditary angioedema (Quinke's)
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C1INH
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OCA III (Rufuos)
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TRP1 (stablizies tyrosinase)
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Ataxia-telangiectasia
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ATM (PI3-kinase like domain)
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Baere-Stevenson Syndrome
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FGFr2
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Bannayan-Riley-Ruvalcaba
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PTEN (tumor suppressor)
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Bart's
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COL7A1 (anchoring fibril)
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gorlin
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PTCH (inhibits smoothened signalling, this inhibition blocked by hedgehog)
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bloom's syndrome
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RECQL3a (DNA helicase)
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Bruton's agammaglobulinemia
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BTK (tyrosine kinase)
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BCIE (epidermolytic hyperkeratosis)
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K1 and K10 (intermediate filaments)
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Carney Complex (NAME, LAMB)
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PRKAR1A (regulatory subunit of protein kinase A)
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Chediak-Higashi
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LYST (lysosomal transport)
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CHILD
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NSDHL
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CGD of childhood (XLR)
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Cytochrome B (NADPH-oxidase compliment component needed to kill catalase positive bacteria)
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Citrullinemia
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Arginosuccinate Synthetase (enzyme in urea cycle)
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Cockayne's Syndrome
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ERCC 6 / ERCC 8 (DNA helicase)
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Conradi-Hunermann
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XLD = EBP (Sterol isomerase)
AR = PEX7 (Peroxisomal gene) |
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Cowden's Syndrome
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PTEN (tumor suppressor)
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Darrier-White (keratosis follicularis)
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SERCA2 (calcium ATPase2A2)
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Dyskeratosis congenita
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XLR = dyskerin (ribosome assembly chaperone)
AD = TERC (telomerase RNA component) |
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Dominant Dystrophic EB
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Col7A1 (anchoring fibril)
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GABEB
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BPAG2
LAMB3 (laminin) |
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JEB with pyloric atresia
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alpha6beta4 integrin
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JEB herlitz
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laminin 5
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EBS
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K 5 and K 14
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EBS with muscular dystrophy
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plectin
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hidrotic ectodermal dysplasia
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connexin 30
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ectodermal dysplasia with skin fragility
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plakophilin 1
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hypohidrotic ectodermal dysplasia (christ-seimens-touraine)
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ectodysplasin
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erythrokeratoderma variabilis
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connexin 31 (GJB3)
connevin 30.3 (GJB4) |
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Fabry's dz (angiokeratoma corporis diffusum)
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alphagalactosidase A
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familial mediterranean fever
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MEFV (pyrin = PMN inhibitor)
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Farber's dz (lipogranulomatosis)
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acid ceramidase
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gardner's
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APC (cleaves B-catenin)
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gaucher's
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b-glucocerebrosidase
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griscelli
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myosinVa (melanosome transport to keratinocytes)
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hailey hailey
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atpase2C
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hereditary hemorrhagic telangiectasia
(osler-weber-rendu) |
ENDOGLIN
ALK-1 = HHT2 |
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homocystinuria
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cystathione synthetase
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hunter's
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iduronate sulfatase
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hurler's
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alpha-l-uronidase
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lamellar ichthyosis
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TGM1
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x-linked icthyosis
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STS aryl sulfatase
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incontinentia pigmenti
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NEMO (XLD)
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Lesch-nyhan
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hgprt
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lhermite-duclos
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PTEN
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mccune albright
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Gs-alpha (stimulates g-protein increasing cAMP)
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MEN1
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MEN1 menin gene (binds nuclear junD)
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MEN IIa and IIb
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RET (protooncogene)
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Menke's kinky hair
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MNK (copper transporting ATPase)
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Milroy's (Nonne-milroy-meige syndrome)
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FLT-4 (growth factor receptor)
aka VEGFr-3 |
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monilethrix
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KRT hHb6 and hHb1
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muir-torre
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MLH1 or MSH2 (mismatch repair gene)
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Nail Patella
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LMX1B (homeobox domain transcription factor)
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Neimann-Pick
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Sphingomyelinase
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Nethertons
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SPINK5 (serine protease inhibitor)
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NF-1
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neurofibromin (increases GTPase activity of RAS)
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NF2
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schwanoomin or merlin
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Pachyonychia congenita 1
(jadassohn-lewandowsky) |
K6A and K16
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Pachyonychia congenita 2
(jackson-lawler) |
K6B and K17
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papillon-lefevre
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cathepsin C (lysosomal protease)
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peutz-jeghers
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STK11 (tuor suppressor)
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PIBIDS
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ERCC 2 (XPD)
ERCC 3 (XPB) |
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Piebaldism
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c-kit (proto-oncogene - tyrosine kinase)
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PCT
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uroporphyrinogen decarboxylase
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CEP
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Uro III Synthetase
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AIP
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PBG-deaminase
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hereditary coproporphyria
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corproporphyrinogen oxidase (mt)
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EPP
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ferrocheltase (mt)
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variegate porphyria
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protoporphyrinogen oxidase (mt)
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refsum
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phytanoyl co-A hydroxylase
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richner-hanhart
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tyrosine aminotransferase
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rothman-thompson
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RECQL4 (dna helicase)
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Rubenstein-Taybi
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CBP (creb-binding protein)
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SCID
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ADA - AR
Il-2 receptor - XLR |
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Bullous Ichthyosis of Siemens
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keratin 2e
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sjogren-larsson
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FALDH
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Striate PPK-1
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DSG-1
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Striate PPK-2
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Desmoplakin
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Takaharas's dz
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catalase
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Tangier Dz
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CERP (cholesterol efflux regulatory protein)
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TS
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TSC1- Chrom 9, hamartin gene
TSC2- Chrom 16, tuberin gene |
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Vohwinkel's
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loricrin gene
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Vohwinkel's with deafness
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connexin 26
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WAardenburg's
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W1 = PAX3
W2 = MITF W3 = PAX3 W4 = EDNRB, EDN3, SOX10 |
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Werner's
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RECQL2 (dna helicase)
LMNA1 (lamin defect) |
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white sponge nevus
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k4 and k13
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wiskott-aldrich
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WASP (binds GTPase and Actin)
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