Genetic disorders

Which of the following diseases refers to a group of inherited severe metabolic disorders that allow sphingomyelin to accumulate in lysosomes?

• Assoicated iwth mutations in SMPD1 and NPC1/2

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Niemann Pick Disease

Which of the following diseases refers to an autosomal recessive disorder that leads to a abnormal hexosaminidase and leads to a deterioration of nerve cells as well as mental and physical abilites.

• Also known as GM2 gangliosidosis or hexosaminidase A deficiency

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Tay-Sachs Disease

Which of the following diseases refers to a deficiency in phenylalanine hydroxylase and causes protein rich foods or aspartame can act like poisons

• A child must inhert two mutated alleles from both parents.

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Phenylketonuria

Which of the following diseases refers to an autosomal dominant disorder of connective tissue manifested by changes in the skeleton eyes, and cardiovascular system caused by an inherited defect in an extracellular glycoprotein called fibrillin-1, FBN1 gene maps to chromosome 15q21.

• •defects of the heart valves and aorta, which often lead to early death

• •unusually tall, with long limbs and long, thin fingers and toes

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Marfan Syndrome

Which of the following diseases refers to a neurodegenerative genetic disorder cuased by Trinucleotide repeat CAG that affects muscle coordination and leads to mental decline and behavioral symptoms?

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Huntington Disease

Which of the following diseases refers to a single gene disease assioacted with abnormal collegen?

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Ehlers-Danlos Syndrome

Which of the following diseases refers to an autosomal dominant disease, number of inherted conditions that are clinically and genetically distinct and carry a high risk of tumor formation particularly in the brain

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

ANS: Neurofibromatosis

Which type of Neurofibromatosis is a tumor disorder that is caused by the mutation of a gene on chromosome 17 germline mutations in neurofibromin, a gene that is involved in the RAS pathway, formerly known as von Recklinghausen disease

Type 1

Which type of Neurofibromatosis is an inherited disease effecting cranial nerve VIII or auditory-vestibular nerve due to mutations of Merlin gene.

Type 2

Which of the following diseases is the most common chromosome disorder and is most frequently caused by meiotic nondisjunction in the ova of older mothers as well as trisomy 21 and Robertsonian translocation (most trisomy 21)

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

I) Down syndrome

ANS: Down syndrome

Which of the following diseases refers to an autosomal recessive mutation in CFTR that effects the lungs

• A chloride channel defect in the sweat duct causes increased chloride and sodium concentration in sweat

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

I) Down syndrome

J) Cystic Fibrosis

ANS: Cystic Fibrosis

Which of the following diseases is as known as branched-chain ketoaciduria and is autosomal recessive metabolic disorder effecting branched-chain alpha-keto acid dehydrogenase complex (BCKDC)

A) Tay-Sachs Disease

B) Phenylketonuria

C) Marfan Syndrome

D) Huntington Disease

E) Maple syrup Disease 

F) Ehlers-Danlos Syndrome

G) Niemann Pick Disease

H) Neurofibromatosis

I) Down syndrome

J) Cystic Fibrosis

ANS: Maple syrup Disease