Genes + Criteria Flashcards
X-linked Recessive (HGDKA)
- Haemophilia A,B
- G6PD deficiency
- Duchenne muscular dystrophy
- Kallman’s
- Androgen Insensitivity
X-linked Dominant:
- Alports
- Hereditary Hypophosphataemia
Autosomal Recessive (C2 F2 SHT)
- Cystic fibrosis
- Congenital adrenal hyperplasia
- Friedreich’s ataxia
- Fanconi anaemia
- Sickle cell anaemia
- Haemochromatosis
- Thalassaemias
Autosomal Dominant: 2xHEMN VOT
- Hereditary spherocytosis
- Huntington’s disease
- Ehlers-Danlos syndrome
- EYE: Retinoblastoma
- Marfan’s syndromes
- Myotonic dystrophy
- Neurofibromatosis
- Noonan syndrome
- Von Willebrand’s disease
- Osteogenesis imperfecta
- Tuberous sclerosis
breast cancer
BRCA1/2 (c17/13), TP53, PTEN
cervical cancer:
HPV t16/18 (E6/E7 proteins)
genital warts:
HPV t6/11
ovarian cancer:
BRCA1/2
cystic fibrosis:
AR, CFTR on chromosome 7, delta F508
downs:
trisomy 21 (meiotic dysfunction, translocation, mosaicism)
klinefelter:
47XXY in males
turner:
45XO in females
noonan
AD, c12
marfan
AD, fibrillin
fragile X:
X linked D/R: FMR1
prader willi:
imprinting, proximal c15
angelman:
UBE3A gene, deletion c15
william:
deletion c7
patau:
trisomy 13
edward:
trisomy 18
duchenne muscular dystrophy
X linked R, xp21 dystrophin gene
friedreich’s ataxia:
AR, GAA repeat, X25 gene on c9 (frataxin)
osteogenesis imperfecta:
AD, c7/17, pro alpha 1 or 2 collagen polypeptides
coeliac:
HLADQ2 HLADQ8
colon cancer:
FAP APC, LYNCH HNPCC
HIV:
CCR5/CCR1 mutation
kallman:
X linked R
precocious puberty:
GPR54 gene
CAH:
AR 21 alpha hydroxylase deficiency
androgen insensitivity:
X linked R 46XY have female phenotype
thalassemia:
AR, 16(A), 11(B)
SCD:
AR (11)
HS:
AD
G6PD:
X link, Xq28, factor VIII
haemophilia:
X link R, A (factor VIII), B (factor IX)
VWD:
AD
CML:
philadelphia t (9,22)
ewings:
EWS-FLI-1, t (11,22)
retinoblastoma:
AD, deactivated RB1 on c13
neurofibromatosis:
t1 (c17-neurofibromin), t2 (c22-merlin)
ALS/FTD
c9orf72 expansion on c21
huntington:
HTT c4 huntingtin
(other trinucleotide: fragile x, spino-cerebellar ataxia, myotonic dystrophy, friedrichs ataxia)
narcolepsy:
HLA DR2
hemiplegic migraine:
AD
AD:
APOEe4 gene, PSEN1/2 (extra APP)
genetic form: Autosomal Dominant, 15% increased change in children
- chromosome 21 (APP mutation)
- chromosome 14 (presenilin 1)
- chromosome 1 (presenilin 2)
autism:
PTEN, MeCP, CNV variants
substance misuse:
CYP2D6 gene
Criteria for syphilis
rapid plasma region and venereal disease research lab
Criteria for BV
Amsels
Endometrial cancer staging
FIGO
Criteria for PCOS
Rotterdam
Criteria for pelvic organ prolapse:
Pelvic organ prolapse quantification (POP-Q)
Screening test for CF?
Guthrie’s (heel prick)
Sickle cell disease (SCD)
Cystic fibrosis (CF)
Hypothyroidism (CHT)
Phenylketonuria (PKU)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystinuria (HCU)
tonsillectomy:
Center Criteria
1 point if: Fever over 38°C, Absence of cough, Tonsillar exudate, Tender anterior cervical lymphadenopathy or lymphadenitis
FeverPAIN Criteria
Fever, Purulent/Pus, Attended in 3 days, Inflammed, No cough/coryza
Melanoma
ABCDE (assymetry, border, colour, diameter, evolving)
Down’s Syndrome: Screening
combined (ultrasound, bHCG, PAPP-A) [11w]
triple (bHCG, AFP, estriol) [14-20w]
quadruple (inhibin-A) [14-20w]
high INHIBIN + BHCG
NIPT (99% accurate)
CVS (14w)
Amnio (15w)
ADHD:
adult: ADHD self report scale (ASRS)
others: SDQ, Conner’s rating scale, DSM5
Autism
Diagnostic Interview for Social Communication Disorders (DISCO)
Autism Diagnostic Observation Schedule (ADOS)
DSM5
OCD:
YBOCS scale
depression
PHQ-9
> 16= severe
dementia:
Six Item Cognitive Impairment Test (6CIT)
10 Point Cognitive Screener (10-CS)
Montreal Cognitive Assessment (MoCA)
Addenbrooke’s Cognitive Exam (ACE-III) <83=abnormal
Mini Mental State Exam (MMSE) <24=mild, <12=severe
Geriatric Depression Scale -15 (GDS)
frailty
rockwood + prisma-7
falls
turn-180 test
timed up and go test
pressure sores
waterlow
anxiety
GAD-7d
Nutrition
MUST tool
Medication Review
START, STOPP
Activities daily living/QOL
Barthel Index
BPPV (benign paroxysmal positional vertigo)
Diagnosis: Dix-Hallpike manoevre
Treatment: Epley manoeuvre, Brandt-Daroff exercises
Epilepsy Genetics
- Familial epilepsies – e.g. benign familial neonatal convulsions (KCNQ2, KCNQ3)
- Specific genetic mechanisms – e.g. SCN1A mutation in Dravet, GEFS+
Genetic conditions complicated by epilepsy * Rettsyndrome(MECP2,CDLK5)
* Angelman syndrome
Wilsons disease
ATB7B