• Types of Disorders and Diseases (GATE)
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Types of Disorders and Diseases (GATE)

Description: GATE
Number of Questions: 15
Created by:
Tags: GATE Molecular Basis of Genetic Diseases and Applications Nutrition Deficiency Diseases
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Which of the following are XY-linked hereditary disorders?

  1. Colour vision deficiency
  2. Ambras syndrome
  3. Haemophilia
  4. Retinitis pigmentosa
  5. Complete colour blindness

  1. 1 and 2

  2. 2 and 3

  3. 1 and 4

  4. 3 and 4

  5. 4 and 5

Show answer
Correct Option: E
Explanation:

This option is correct because retinitis pigmentosa is an XY-linked hereditary, degenerative eye disease that causes severe vision impairment and often blindness. Complete colour blindness is a severe vision imparement, leaving a person completely unable to distinguish any colour. It is an XY-linked hereditary disease.

Which of the following sets represents transmissible diseases?

  1. Osteoporosis, Hypertension, Malignant neoplasm

  2. Hypertension, Malignant neoplasm, Pulmonalis

  3. Pulmonalis, Rubeola, Osteoporosis

  4. Pulmonalis, Pertussis, Malignant neoplasm

  5. Pulmonalis, Rubeola, Pertussis

Show answer
Correct Option: E
Explanation:

This option is correct.

Which of the following chromosomal disorders occurs due to the deletion of short arm of the 5th chromosome?

  1. Angelman syndrome

  2. Prader–Willi syndrome

  3. DiGeorge syndrome

  4. Lejeune’s syndrome

  5. Ullrich–Turner syndrome

Show answer
Correct Option: D
Explanation:

This option is correct because Lejeune’s syndrome is a rare genetic disorder due to a missing part (deletion) of chromosome 5.

Which of the following is a Y-linked recessive hereditary disorder?

  1. Alkaptonuria

  2. Epipermolysis bullosa

  3. Haemophilia B

  4. Hypertrichosis

  5. Phenylketonuria

Show answer
Correct Option: D
Explanation:

This option is correct because Hypertrichosis is an abnormal amount of hair growth over the body. It is a Y-linked recessive disorder.

Which of the following are examples of autosomal dominant hereditary disorders?

  1. Achromia
  2. Phenylketonuria
  3. Achondroplasia
  4. Brachydactyly

  1. 1 and 2

  2. 1 and 3

  3. 2 and 3

  4. 2 and 4

  5. 3 and 4

Show answer
Correct Option: E
Explanation:

This option is correct because achondroplasia and brachydactyly are autosomal dominant disorders.

Which of the following are examples of retinol deficiency diseases?

  1. Keratoconjunctivitis
  2. Osteomalacia
  3. Nyctalopia
  4. Keratomalacia

  1. 1 and 2

  2. 1 and 4

  3. 2 and 3

  4. 3 and 4

  5. 1, 3 and 4

Show answer
Correct Option: D
Explanation:

This option is correct because Nyctalopia and Keratomalacia are caused due to the deficiency of retinol.

Match the following:

 
Column – I Column – II
A. Down’s syndrome 1. Trisomy of sex chromosome
B. Patau’s syndrome 2. Trisomy of 18th chromosome
C. Edward’s syndrome 3. Trisomy of 13th chromosome
D. Klinofelter’s syndrome 4. Trisomy of 21st chromosome

  1. A - 1, B - 2, C - 3, D - 4

  2. A - 2, B - 1, C - 4, D - 3

  3. A - 4, B - 2, C - 1, D - 3

  4. A - 3, B - 2, C - 4, D - 1

  5. A - 4, B - 3, C - 2, D - 1

Show answer
Correct Option: E
Explanation:

This option is correct because all are correctly matched.  

Which of the following is an inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine?

  1. Black bone disease

  2. Ochronosis

  3. Tyrosinemia

  4. BH4 deficiency

  5. Hyperphenylalaninemia

Show answer
Correct Option: A
Explanation:

This option is correct because black bone disease is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

Which of the following syndromes is caused by the accumulation of homogentisic acid in connective tissues?

  1. Alkaptonuria

  2. Rhinophyma

  3. Gnathophyma

  4. Ochronosis

  5. Majeed syndrome

Show answer
Correct Option: D
Explanation:

This option is correct because Ochronosis is the syndrome caused by the accumulation of homogentisic acid in connective tissues.

Which of the following is a genetic periodic fever syndrome, which causes uncontrolled inflammation in multiple parts of the body, starting in the newborn period?

  1. Blau syndrome

  2. Periodic fever syndrome

  3. CINCA

  4. HIDS

  5. TRAPS

Show answer
Correct Option: C
Explanation:

This option is correct because chronic infantile neurologic cutaneous and articular syndrome (CINCA) is a rare genetic periodic fever syndrome, which causes uncontrolled inflammation in multiple parts of the body, starting in the newborn period.

Directions: In the following question, there are two statements Assertion (A) and Reason (R). Consider both the statements independently and mark your answer.

Assertion (A): In Biermer's anaemia, the size of RBC increases, but their number decreases in blood. Reason (R): It is caused due to the deficiency of bionic.

  1. A and R both are correct and R is the correct explanation of A.

  2. A and R both are correct and R is not the correct explanation of A.

  3. A is correct and R is incorrect.

  4. A is incorrect and R is correct.

  5. A and R are both incorrect.

Show answer
Correct Option: C
Explanation:

This option is correct because in Biermer's anemia, the size of RBC increases, but number decreases in blood. It is caused due to the deficiency of vitamin B12, not due to deficiency of bionic (vitamin B3).

Which of the following is neurological disorder characterised by recurring facial paralysis, swelling of the face and lips?

  1. Lingua villosa nigra

  2. Melkersson–Rosenthal syndrome

  3. Senear–Usher syndrome

  4. Behçet's syndrome

  5. Graham-Little syndrome

Show answer
Correct Option: B
Explanation:

This option is correct because Melkersson–Rosenthal syndrome is a neurological disorder characterised by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue.

Which of the following are vitamin-deficiency diseases?

  1. Glossitis
  2. Haemorrhage
  3. Kwashiorkor
  4. Minimata disease
  5. Osteomalacia

  1. 1, 2 and 3

  2. 1, 2 and 5

  3. 2, 3 and 4

  4. 2, 4 and 5

  5. 3, 4 and 5

Show answer
Correct Option: B
Explanation:

This option is correct because Glossitis is caused due to the deficiency of vitamin B12.

Which of the following is an autosomal dominant disease which causes sensorineural deafness, recurrent hives and can lead to amyloidosis?

  1. Muckle–Wells syndrome

  2. Familial cold autoinflammatory syndrome

  3. Chronic infantile neurologic cutaneous and articular syndrome

  4. Aicardi–Goutières syndrome

  5. Schnitzler syndrome

Show answer
Correct Option: A
Explanation:

This option is correct.

Match the following:

 
Disease Affected organ
A. Arthritis 1. Bile duct
B. Hepatitis 2. Liver
C. Keratitis 3. Bones
D. Cholangitis 4. Cornea

  1. A - 1, B - 2, C - 3, D - 4

  2. A - 2, B - 1, C - 4, D - 3

  3. A - 4, B - 2, C - 1, D - 3

  4. A - 3, B - 2, C - 4, D - 1

  5. A - 4, B - 3, C - 2, D - 1

Show answer
Correct Option: D
Explanation:

Correct matching is A - 3, B - 2, C - 4, D - 1. 

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