| LIST OF GENETIC CONDITIONS
In All India Entrance there is always one question on the genetic
disease.
I suggest that instead of mugging them on screen, you take a print out and
stick the following page in your MCQ book
so that you can revise it again and again.
Autosomal Dominant
HMF NOVA-T
Hereditory Spherocytosis
Hereditory non polyposis/ polyposis coli
Hereditory haemorrhagic telangectasis
Huntignton's Chorea
Marfan's syndrome
Myotonic dystrophy
Famlial hypercholestrolemia
Familial HOCM
Neurofibromatosis
Osteogenesis Imperfecta
Von Willebrand's disease
Von Hippel Lindau's syndrome
Achondroplasia
Adult Polycystic Kidney disease
Acute Intermittent Porphyria
Tuberous Sclerosis
Autosomal Recessive
(Try to remember in pairs)
Wilson's disease
Haemochromatosis
Sickle cell disease
Thallassemia
Homocystinuria
Phenylketonuria
Cystic fibrosis, alfa 1 antitrypsin deficiency
Friedreich ataxia
Deafness
Albinism
(B FAX)
Blooms
Fanconi's
Ataxia telangiectasia
Xeroderma Pigmentosum
Galactosemia
Glycogen storage disease
Congenital cretinism
X linked disorders
Hemophilia
G 6 PD deficency anaemia
Duchenne muscular dystrophy
Becker muscular dystrophy
Fabry's, Fragile X
Alport (X linked dominant)
Ocular albinism
Testicular feminisation
Colour blindness
Chronic granulomatous disease
Familial hypophosphatemic rickets (X linked dominant)
Menke's disease
Nephrogenic DI
Miscellaneous
Gilbert
AD
Criggler Najjar I AR
Criggler Najjar II AD
Dubin Jhonson AR
Rotor's
AD
(alternate AD, AR)
Hunter
Xlinked
Hurler
AR
Sanfilippo AR
Morquio
AR
Marateaux Lamy AR
Of the following Fabry's is X linked; remaining are AR
Fabrys
Tay sachs
Sandoffs
Gaucher
Neimann Picks
Krabbe's
Metachromatic Leucodystrophy
Farbers
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