All questions Flashcards
X-linked recessive conditions
Androgen insensitivity syndrome
Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry’s disease
G6PD deficiency
Haemophilia A,B
Hunter’s disease
Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome
Liver failure followed by cardiac arrest
Ischemic hepatitis
Marfan syndrome
AD
Upward dislocation of lens
Aortic incompetence
Normal intellectual development
Scoliosis
Homocytinuria
Downward dislocation of lens
AR
Mental retardation
Livedo reticularis
Osteoporosis
KRAS
activation of the K-ras oncogene,
RAS is an intracellular signaling molecular that acts downstream of the epidermal growth factor receptor (EGFR) to stimulate cell division and growth
present in 30-50% of colorectal cancers
associated with failure to respond to EGFR based therapies such as the
monoclonal antibodies Cetuximab and Panitumumab.
Kearns-Sayre syndrome
Mitochondrial Inheritance
Onset < 20 yrs
External opthalmoplegia
Retinitis pigmentosa
SNHL
Kallman syndrome
K-knockout of GnRH neurons (hypogonadotropic hypogonadism)
A-Anosmia
L-Late or absent puberty
M-Migration failure of neurons
Autosomal dominant
(Structural defect)
Autosomal dominant conditions
- Achondroplasia
- Ehlers-Danlos syndrome
- Familial adenomatous polyposis coli
- Gilbert syndrome
- Hereditary non-polyposis colorectal carcinoma
- Huntington’s disease
- Marian syndrome
- Von Willebrand disease
- Familial hypercholesterolaemia
5 Ps of Porphyria cutanea tarda (PCT)
Photosensitivity
Pigmented urine
Porphyrins elevated in urine
Pain absent
Phlebectomy help
Fabry disease (XR)
F – Foot and hand pain (neuropathy)
A – Angiokeratomas
B – Burning pain
R – Renal failure (CKD)
Y – Young strokes
C – Cardiomyopathy (LVH)
A – Abdominal pain (GI symptoms)
N – Neuropathy
T – Tired (fatigue)
SWEAT – Decreased sweating (anhidrosis)
