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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