Autosomal Dominant Disorders
Autosomal Recessive Disorders
X-Linked Disorders
Gene Defects
Enzyme Deficiency
100
Defect in the voltage-gated calcium channels causes a rapid fall in blood potassium levels.
What is Hypokalemic Periodic Paralysis?
100
This disease is the result of the release of copper into circulation without begin bound to ceruloplasmin.
What is Wilson's disease?
100
Muscular biopsy confirms this disease with a complete absence of Dystrophin.
What is Duchenne Muscular Dystrophy?
100
This gene is mutated in cases of Alkaptonuria
What is the HGD gene?
100
Phenylketonuria.
What is Phenylalanine Hydroxylase?
200
Presents with severe abdominal pain lasting several days, peripheral neuropathy, CNS signs, and a lack of rash.
What is Acute intermittent porphyria?
200
This condition causes the sperm to become immobile.
What is Kartagener's syndrome?
200
This x-linked recessive disorder is caused by the absence of retinal photoreceptors to two specific colours.
What is Red-Green color blindness?
200
This gene is affected in cases of Ataxia-Telangiectasia.
What is the ATM gene?
200
Galactosemia.
What is Galactose-1-phosphate uridyltransferase?
300
Mutation in the DNA that codes for fibroblast growth factor receptor 3, negatively affects bone growth.
What is Achondroplasia?
300
The formation of kidney stones is a result of gene mutation that encodes for transporter proteins mainly in the kidneys.
What is Cystinuria?
300
Mutation of the MECP2 gene on the X-chromosome leads to sudden regression of motor and language skills.
What is Rett syndrome?
300
This gene is the cause of Marfan syndrome.
What is FBN1?
300
Maple Syrup Urine Disease.
What is Branched-Chain Alpha-Keto Acid Dehydrogenase?
400
Trinucleotide repeat disorder originates from chromosome 4, leads to blunting of inhibitory neurones.
What is Huntington's disease?
400
Addition of ferric chloride to urine will darken it in this condition.
What is Alkaptonuria?
400
Affects the body's ability to eliminate ammonia, thus causing hyperammonemia.
What is Ornithine transcarbamoylase deficiency?
400
Familial hypercholesterolemia is caused by a mutation of this gene.
What is LDLR?
400
Alkaptonuria.
What is Homogentisic Acid Oxidase?
500
Hamartin and Tuberin no longer work properly to suppress tumors.
What is Tuberous sclerosis?
500
Defect of the SLC6A19 gene on chromosome 5 affects the absorption of non-polar amino acids, mainly Tryptophan.
What is Hartnup's disease?
500
Caused by mutations in the COL4A3 gene on chromosome 2.
What is Alport's syndrome?
500
Hypokalemic periodic paralysis is caused by this gene.
What is SCN4A or CACNA1S?
500
Galactosuria.
What is Galactokinase?
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