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131 Cards in this Set

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Gene- X-linked ichthyosis
STS Xp22.32
Aryl Sulfatase C (inhibits proteolysis)
X linked recessive
Gene- Ichthyosis vulgaris
Profillagrin (decreased shedding of corneocytes)
Autosomal dominant
Gene- Epidermolytic hyperkeratosis (bullous CIE)
Keratin 1, 10
Autosomal dominant
Gene- Bullous ichthyosis of Siemens
Keratin 2e
Autosomal dominant
Gene- White sponge nevus
Keratin 4, 13
Autosomal dominant
Gene- lamellar ichthyosis
TGM1
Transglutaminase (crosslinks cornified envelope)
Autosomal recessive
Gene- Congenital ichthyosiform erythroderma (nonbullous CIE)
1. TGM1 (transglutaminase)
2. ALOXE3 (lipooxygenase 3)
3. ALOX1213 (1213 lipooxygenase)
4. ABC-A12 (ATP binding cassette transporter 12)
Autosomal recessive
Gene- Harlequin ichthyosis
Unknown (on 18q21)
Autosomal recessive
Gene- Netherton syndrome
SPINK5
LEKT1 (serine protease inhibitor)
Autosomal recessive
Gene- Sjogren-Larsson syndrome
FALDH
Fatty aldehyde dehydrogenase
Autosomal recessive
Gene- Refsum syndrome
1. PHYH (AKA PAHX) (Phytanoyl Co-A hydroxylase)
2. PEX7 (Peroxin 7 receptor)
Autosomal recessive
Gene- Keratitis-Ichthyosis-Deafness (KID) syndrome
GJB2
Connexin 26
Autosomal recessive or dominant
Gene- Conradi-Hunderman-Happle syndrome (Chondrodysplasia punctata)
1. EBP (emopamil binding protein)-X-linked dominant
2. ARSE (aryl sulfatase E)- X-linked recessive
3. PEX7 (peroxin 7 receptor)- Autosomal recessive
Gene- CHILD syndrome (Congenital hemidysplasia with ichthyosiform erythroderma and limb defects)
1. NSDHL (33 hydroxysteroid dehydrogenase)
2. EBP (Emopril binding protein)
X-linked dominant
Gene- Erythrokeratoderma variabilis (Mendes da Costa syndrome)
GJB3, GJB4
Connexins 31, 30.3
Autosomal dominant
Gene- Darier-White (Keratosis follicularis)
SERCA2 (ATP2A2)
ER Ca ATPase
Autosomal dominant
Gene- Hailey-Hailey disease
ATP2C1
Golgo Ca ATPase
Autosomal dominant
Gene- Chanarin-Dorfman (Neutral lipid storage disease)
CG158
Esterase family
Autosomal recessive
Gene- Vohlwinkel syndrome (PPK mutilans) (without deafness)
LOR
Loricrin
Autosomal dominant
Gene- Vohlwinkel with deafness
GJB2
Connexin 26
Autosomal dominant
Gene- Papillon-Lefevre syndrome (PPK with periodontitis)
CTSC
Cathepsin C (lysosomal protease)
Autosomal recessive
Gene- Striate PPK1
DSG1
Desmoglein 1
Autosomal dominant
Gene- Striate PPK2
DSP
Desmoplakin
Autosomal dominant
Gene- Vorner's syndrome (diffuse epidermolytic PPK)
Keratin 9
Autosomal dominant
Gene- Unna-Thost (nonepidermolytic PPK)
Keratin 1
Autosomal dominant
Gene- Mal de Meleda (keratoderma palmoplantaris transgradiens)
SLURP1
Autosomal dominant
Gene- Howell-evans syndrome (focal PPK)
TOC
Tylosis oesophageal cancer
Autosomal dominant
Gene- Pachyonychia congenita II (Jackson-Lawler)
Keratin 17, 7
Autosomal dominant
Gene- Richner-Hanhart syndrome (oculo-cutaneous tyrosinemia type II)
Tyrosine aminotransferase
Autosomal recessive
Gene- Epidermolysis bullosa simplex
Keratin 5, 14
Autosomal dominant
Gene- EBS with muscular dystrophy
PLEC1
Plectin
Autosomal recessive
Gene- Generalized atrophic benign EB (non-Herlitz)
1. COL17A1/BPAg2 (Collagen 17)
2. LAMB3 (Laminin)
Autosomal recessive
Gene- Junctional EB with pyloric atresia
ITGA6, ITBB3
Integrin alpha6beta4
Autosomal recessive
Gene- Junctional EB (Herlitz)
LAMA3, LAMB3, LAMC2
Laminin 5
Autosomal recessive
Gene- Dystrophic EB
COL7A1
Collagen VII
Autosomal dominant or recessive
Gene- Oculocutaneous albinism type I
TYR
Tyrosinase
Autosomal recessive
Gene- Oculocutaneous albinism type II
P protein (defective melanosome transport)
Autosomal recessive
Gene- Rufous oculocutaneous albinism (type III)
TYP1
Tyrosine related protein
Autosomal recessive
Gene- Hermansky-Pudlak
HSP1, HSP2
Beta3 subunit of AP3 (accumulation of ceroid lipofuscin in macrophages)
Autosomal recessive
Gene- Chediak-Higashi
LYST
Lysosomal transport protein
Autosomal recessive
Gene- Griscelli syndrome
MYO5a
Myosin 5a
Autosomal recessive
Gene- Waardenberg's syndrome
1. PAX3 (types 1, 3)
2. MITF (type 2)
3. SOX10/EDN3 (type 4)
Autosomal dominant
Gene- Piebaldism
c-kit
Tyrosine kinase receptor c-kit
Autosomal dominant
Gene- LEOPARD syndrome
PTPN1
Tyrosine phosphatase SHP2
Autosomal dominant
Gene- McCune-Albright syndrome
GNAS-1
Stimulates G-protein
Paternally inherited
Gene- Neurofibromatosis I (von Recklinghausen)
NF1
Neurofibromin
Autosomal dominant
Gene- Neurofibromatosis II
NF2
Schwannomin (Merlin)
Autosomal dominant
Gene- Tuberous sclerosis (epiloia)
1. TSC1 (hamartin)
2. TSC2 (tuberin)
Autosomal dominant
Gene- Incontinentia pigmenti (Bloch-Sulzberger)
NEMO
NFkappaB activator
X-linked dominant
Gene- Bannayan-Riley-Ruvalcaba
PTEN
Tumor suppressor
Autosomal dominant
Gene- Cowden's syndrome
PTEN
Tumor suppressor
Autosomal dominant
Gene- Gardner's syndrome
APC
Adenomatosis polyposis coli tumor suppressor
Autosomal dominant
Gene- Basal cell nevus syndrome (Gorlin's)
PTCH
Patched tumor suppressor
Autosomal dominant
Gene- Muir-Torre syndrome
MSH1, MSH2
DNA mismatch repair
Autosomal dominant
Gene- Birt-Hogg-Dube syndrome
BHD
Folliculin
Autosomal dominant
Gene- Carney complex (LAMB, NAME syndromes)
PRKAR1A
Protein Kinase A regulatory protein tumor suppressor
Autosomal dominant
Gene- Peutz-Jeghers syndrome
STK11
Serine/threonine kinase 11 tumor suppressor
Autosomal dominant
Gene- Dyskeratosis congenita (Zinsser-Engman-Cole)
1. DKC1 (dyskeratin-RNA telomerase)
X-linked recessive
2. TERC (telomerase)
Autosomal dominant
Gene- Multiple endocrine neoplasia IIB
RET
RET protooncogene
Autosomal dominant
Gene- von Hippel Lindau
VHL
Tumor suppressor
Autosomal dominant
Gene- Xeroderma Pigmentosum
XPA-G
DNA repair enzymes
Autosomal recessive
Gene- Beckwith-Wiedemann syndrome
p57 (KIP2)
CDK inhibitor tumor suppressor
Sporadic
Gene- Bruton's agammaglobulinemia
BTK
Bruton's tyrosine kinase
X-linked recessive
Gene- Severe combined immunodeficiency
1. Gamma chain of IL2-R
X-linked recessive
2. Adenosine deaminase
Autosomal recessive
3. JAK3
Autosomal recessive
Gene- Chronic granulomatous disease of childhood
CYBB
Cytochrome b558 (NADPH oxidase burst component)
X linked recessive (90%) or Autosomal recessive (10%)
Gene- Wiskott-Aldrich syndrome
WASP
Disrupts actin skeleton
X linked recessive
Gene- Buschke-Ollendorff syndrome
unknown
Autosomal dominant
Gene- Ehlers Danlos classical (I, II)
1. COL51A
Collagen 5
Autosomal dominant
2. TNX
Tenascin X
Autosomal recessive
Gene- Ehlers Danlos hypermobility (III)
unknown
Autosomal dominant
Gene- Ehlers Danlos vascular (IV)
COL3A1
Collagen III
Autosomal dominant
Gene- Ehlers Danlos kyphoscolosis (VI)
PLOD
Lysyl hydroxylase
Autosomal recessive
Gene- Ehlers Danlos arthrochalasia
COL1A1, 1A2
Collagen 1
Autosomal dominant
Gene- Ehlers Danlos dermatosparaxis (VIIc)
COL1A1-N-pep
Collagen 1
Autosomal recessive
Gene- Cutis laxa
1. FBLN5
Fibulin 5
Autosomal recessive
2. Elastin
Autosomal dominant
3. ATP7A/MNK
X linked recessive
Gene- Goltz syndrome (focal dermal hypoplasia)
unkown (Xp22.31)
X linked dominant
Gene- Lipoid proteinosis (Urbach-Wiethe)
ECM1
Autosomal recessive
Gene- Marfan's syndrome
FBN1
Fibrillin
Autosomal dominant
Gene- Pseudoxanthoma elasticum
ABCC6
Multidrug resistant protein MRP6
Autosomal recessive > autosomal dominant
Gene- Osteogenesis imperfecta
COL1A1, 1A2
Collagen 1 alpha 1 and alpha 2 chains
Autosomal dominant, autosomal recessive
Gene- Werner's syndrome
WRN or RECQL2
DNA helicase
Autosomal recessive
Gene- Fabry's disease (Angiokeratoma corporis diffusum)
Alphagalactosidase A
X linked recessive
Gene- Farber's disease (lipogranulomatosis)
Acid ceramidase
Autosomal dominant
Gene- Gaucher's disease
Beta-glucocerebrosidase
Autosomal recessive
Gene- Hurler's syndrome (MPS I)
Alpha-L-Iduronidase
Autosomal recessive
Gene- Hunter's syndrome (MPS II)
Iduronate sulfatase
X linked recessive
Gene- Homocysteinuria
Cystathione synthetase
Autosomal recessive
Gene- Neimann-Pick
Sphingomyelinase
Autosomal recessive
Gene- Quinke's hereditary angioedema
C1 esterase inhibitor
Autosomal dominant
Gene- Ataxia-telangiectasia (Louis-Bar)
ATM
DNA repair protein
Autosomal recessive
What tumors are associated with Cowden's syndrome?
Trichilemmoma
Breast cancer
Thyroid cancer
What tumors are associated with Bannayan-Riley-Ruvalcaba?
Trichilemmoma
What tumors are associated with Gardner's syndrome?
GI/Colon cancer
Osteomas
What tumors are associated with Gorlin's syndrome?
Medulloblastoma
Basal cell carcinoma
What tumors are associated with Muir-Torre?
Sebaceous adenoma
Keratoacanthoma
Colon cancer
Less common: GU, lung, breast, heme cancers
What tumors are associated with Birt-Hogg-Dube?
Fibrofolliculoma
Trichodiscoma
Renal cell cancer
Medullary cancer
Colon cancer
What tumors are associated with Carney complex?
Atrial myxoma
Testicular tumors
Psammomatous melanotic schwannomas
What tumors are associated with Peutz-Jeghers?
GI adenocarcinoma
Breast cancer
Ovarian cancer
Pancreatic cancer
What tumors are associated with MEN IIb?
Mucosal neuromas
Medullary thyroid cancer
Pheochromocytoma
What tumors are associated with von Hippel Lindau?
CNS, retinal hemagioblastomas
Pheochromocytoma
Adrenal cancer
Renal cell cancer
What tumors are associated with Beckwith-Wiedemann?
Wilms tumor
Renal medullary cyst
Hepatoblastoma
Adrenal cortical cancer
Rhabdomyosarcoma
What tumors are associated with Neurofibromatosis I?
Neurofibroma
Optic nerve glioma
What tumors are associated with Neurofibromatosis II?
Vestibular schwannoma
Astrocytoma
Meningioma
Neurofibroma
What tumors are associated with Tuberous sclerosis?
Adenoma sebaceum
Periungual fibroma
Renal angiomyolipoma
Heart rhabdomyoma
Pulmonary lymphangiomyomatosis
What tumors are associated with Howell-Evans (focal PPK)?
Oesophageal cancer
What ocular findings are associated with X-linked ichthyosis?
Comma shaped corneal opacities
What ocular findings are associated with Sjogren-Larsson syndrome?
"Glistening dots" retinitis pigmentosa
What ocular findings are associated with Refsum syndrome
"Salt and pepper" retinitis pigmentosis
Cataracts
Nystagmus
What ocular findings are associated with Richner-Hanhart (oculocutaneous tyrosinemia type II)?
Pseudoherpetic dendritic keratitis with corneal erosions (secondary to tyrosine crystals)- can lead to blindness
What ocular findings are associated with Waardenberg's syndrome?
Heterochromatic irides
What ocular findings are associated with Neurofibromatosis I?
Lisch nodules (iris hamartomas)
Optic nerve gliomas
What ocular findings are associated with Tuberous sclerosis?
Retinal phakomas
What ocular findings are associated with Gardner's syndrome?
Congenital hypertrophy of retinal pigment epithelium (CHRPE)
What ocular findings are associated with Gorlin's syndrome?
Cataracts
Colobomas
What ocular findings are associated with Dyskeratosis congenita?
Blepharitis
Conjunctivitis
What ocular findings are associated with Ehlers Danlos I (classical)?
Blue sclerae
What ocular findings are associated with Ehlers Danlos with kyphoscoliosis?
Ruptured globe
Retinal detachment
Intraocular hemorrhage
What ocular findings are associated with Goltz syndrome (focal dermal hypoplasia)?
Coloboma
What ocular findings are associated with Marfan syndrome?
Ectopia lentis- upward displacement of the lend
What ocular findings are associated with Pseudoxanthoma elasticum?
Angioid streaks
What ocular findings are associated with Osteogenesis imperfecta?
Blue sclerae
What ocular findings are associated with Gaucher's disease?
Pingueculae
What ocular findings are associated with Homocysteinuria?
Downward displacement of the lens
What ocular findings are associated with Niemann-Pick?
Cherry red spots on the retina
What ocular findings are associated with Cockayne syndrome?
"Salt and pepper" retinal pigment
Cataracts
Miotic pupils
Optic atrophy
What ocular findings are associated with Nail-Patella syndrome?
Lester iris- hyperpigmentation of the papillary margin
What radiographic findings are associated with Conradi-Hunerman-Happle?
Stippled epiphyses
Scoliosis
Limb shortening
What radiographic findings are associated with Papillon-Lefevre?
Dural calcification
Teeth- alveolar bone resorption
What radiographic findings are associated with Gorlin syndrome?
Calcification of the falx cerebri
Bifid ribs
Odontogenic keratocysts
What radiographic findings are associated with SCID?
Absent thymic shadow
What radiographic findings are associated with Marfan's syndrome?
Aortic aneurysm
What radiographic findings are associated with Sturge-Weber?
Tram-track calcifcations in the brain