What is a genetic disease caused by a deletion mutation or by any other type of mutation?

Question

I don't want to know what mutation means but what diseases some of them cause. Thank you!

I need some that aren't that common, please, thank you!

Answer 1

First, Down's syndrome is not caused by a genetic mutation, it's caused by having 3 copies of a normal chromosome 21

Rare genetic diseases, huh? How about "Adrenoleukodystrophy", which produces demyelination and adrenal deficits, and is caused by mutation of ALD gene on chromosome Xq28, which encodes an ATP-binding cassette transporter protein, resulting in inability to catabolize very-long-chain fatty acids within peroxisomes.

Not rare enough? Try "Fatal Familial Insomnia", which is an autosomal-dominant disease caused by mutation of PRNP gene on chromosome 20, and initially presents with refractory insomnia that progresses to ataxia, autonomic signs, then stupor and coma, usually being fatal within 3 years

Answer 2

CML or Chronic Myelogenous Leukemia. Two chromosomes break and switch places, causing uncontrolled white cell growth.

Answer 3

Cancer-most types

Answer 4

down's syndrome is a genetic mutation

Answer 5

sickle cell anemia, cystic fibrosis are 2 common ones