Autosomal Recessive Diseases

Autosomal Recessive Diseases

Note : Majority of Inborn Errors of Metabolism are Autosomal Recessive.

PKU
Albinism
Galactosemia

Canavan' s Disease
Refsum's Disease
Abetalipoproteinemia

Ataxia Telengectasia
Friedrich's Ataxia

Familial Mediterranean Fever

Alpha-1- Anti Trypsin deficiency

Cystic Fibrosis

ARPCKD
21-Hydroxylase deficiency

Bartter's Syndrome types 1,2,3 and 4 . (Type 5 is AD)(salt wasting, hypokalemia)

Gitelman variant of Bartter's (salt wasting, hypokalemia and HYPOMAGNESEMIA)

Wilson's Disease
Caroli's Disease

Hemochromatosis (HFE gene)

CGD / Chronic Granulomatous Disease(Don't confuse it's only 30%)
Chediak-Higashi Syndrome
Specific Granule Deficiency
MPO Deficiency
Sickle cell Anemia

Werner Syndrome

Acrodermatitis Enteropathica (Zn Deiciency)
Kartagener's Syndrome

Gyrate Atrophy