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;
131 Cards in this Set
- Front
- Back
|
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
|
