Friday, 10 June 2016

Autosoml Recessive diseases at a glance

       Some important and common autosomal recessive diseases are:








  • 1.       Blood or RBC related (Haemoglobinopathies ):

a.       Sickle cell anaemia
b.      Thalassaemia
  • 2.       Lungs related :

a.       Cystic fibrosis
b.      α  1 antitrypsin deficiency
  • 3.       Ataxia related :

a.       Friedreich ataxia
b.      Wilson’s ataxia
  • 4.       Atrophy related :

a.       Neurogenic mascular atrophy
b.      Spinal muscular atrophy



  • 5.       Urea (only name)related:

a.       Phenylketonuria
b.      Alkaptonuria
c.       Homocystenuria
  • 6.       Storage diseases related :

a.       Glycogen storage diseases
b.      Lysosomal storage diseases
  • 7.       Congenital related :

a.       Congenital adrenal hyperplasia
b.      Congenital erythropoietic porphyria
  • 8.       Others related :

a.       Infantile polycystic kidney diseases
b.      Haemochromatosis
c.       Albinism
(Just for easy memories)


Collected and concise only for post graduate students,Pictures are collected from Google.



for more,please visit 

1. http://www.buzzle.com/articles/genetic-diseases-list-disorders.html#autosomal-recessive-single-gene-disorders

2. http://www.medicinenet.com/script/main/mobileart.asp?articlekey=15971&page=3

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