Bissoy.com
Doctors Medicines MCQs Q&A

What is the name of the disease that is caused by autosomal recessive mutations of the GH receptor?

What is the name of the disease that is caused by autosomal recessive mutations of the GH receptor? Correct Answer Laron dwarfism

It is possible to trace a variety of genetic disorders due to mutations in cytokine receptors. Laron dwarfism, for instance, is caused by GH receptor autosomal recessive mutations. Laron syndrome is a disorder that arises when growth hormone cannot be used by the body.

Related Questions

Consider the following regarding the diseases caused by the irregularity in the chromosomes in the human body.  I. Down's Syndrome: Extra chromosome is added to the 23rd autosomal chromosome  II. Patau's Syndrome: Additional autosomal chromsome is added to the 14th autosomal chromsome  III. Sickle Cell Anaemia: Change in the 17th autosomal chromsome Which among the above is/are correct?
What disease is caused by the autosomal recessive mutations of the leptin receptor?
Which disease is caused by loss-of-function mutations of the GnRH receptor, the orphan GPR54, or the prokineticin receptor 2 (PROKR2)?
Read the passage carefully and choose the best answer to each question out of the four alternatives.
Eight north Indian Ocean countries, namely, Bangladesh, India, the Maldives, Myanmar, Oman, Pakistan, Sri Lanka and Thailand, were asked to contribute names so that a combined list could be compiled. Each country gave eight names and a combined list of 64 names was prepared. This list is currently in use, and all cyclones arising in the north Indian Ocean are named from this list, with one name from each country being used in turn. Almost 38 or 39 names from the list have been used up, but since many cyclones dissipate long before they hit land, their names rarely figure in the papers or other media. The names that people do know about, and remember are, naturally, those that were most destructive ones, or very recent. Aila, in 2009 is remembered with a shudder for the enormous destruction it caused in West Bengal and Bangladesh; Phaillin, also for the damage it caused when it hit the Odisha coast in 2013. Two harmless cyclones, which also might remain in peoples memory, are the more recent ones of 2014 — Hudhud, which threatened the east coast of India and Nilofar, which was expected to, but did not, devastate the western coast. The names in the cyclone list are usually words one associates with storms; words which mean water or wind or lightning in various national languages. Sometimes they are names of other things — birds or flowers or precious stones. The name Aila, contributed by the Maldives means fire, the name Phaillin from Thailand means sapphire, the name Hudhud from Oman is the name of a bird, probably the hoopoe, and the name Nilofar, given by Pakistan, is the Urdu name of the lotus or water lily. The eight names suggested by India, and which are in the list of 64, are Agni, Akaash, Bijli, Jal, Leher, Megh, Sagar and Vayu, meaning in that order, fire, sky, lightning, water, wave, cloud, sea and wind. Five of these names (that is, up to Leher) have been used so far.
For the next cyclone if it is the turn of an Indian name to be chosen, then what will be that name?
You know that H is dominant for height locus and H is recessive. Is the F2 progeny are a mixture of 3:1 dominant: recessive and you pick a dominant plant at random what will be the probability that the F3 will have a mixture of dominant and recessive traits as well?
Read the passage carefully and choose the best answer to each question out of the four alternatives.
Eight north Indian Ocean countries, namely, Bangladesh, India, the Maldives, Myanmar, Oman, Pakistan, Sri Lanka and Thailand, were asked to contribute names so that a combined list could be compiled. Each country gave eight names and a combined list of 64 names was prepared. This list is currently in use, and all cyclones arising in the north Indian Ocean are named from this list, with one name from each country being used in turn. Almost 38 or 39 names from the list have been used up, but since many cyclones dissipate long before they hit land, their names rarely figure in the papers or other media. The names that people do know about, and remember are, naturally, those that were most destructive ones, or very recent. Aila, in 2009 is remembered with a shudder for the enormous destruction it caused in West Bengal and Bangladesh; Phaillin, also for the damage it caused when it hit the Odisha coast in 2013. Two harmless cyclones, which also might remain in peoples memory, are the more recent ones of 2014 — Hudhud, which threatened the east coast of India and Nilofar, which was expected to, but did not, devastate the western coast. The names in the cyclone list are usually words one associates with storms; words which mean water or wind or lightning in various national languages. Sometimes they are names of other things — birds or flowers or precious stones. The name Aila, contributed by the Maldives means fire, the name Phaillin from Thailand means sapphire, the name Hudhud from Oman is the name of a bird, probably the hoopoe, and the name Nilofar, given by Pakistan, is the Urdu name of the lotus or water lily. The eight names suggested by India, and which are in the list of 64, are Agni, Akaash, Bijli, Jal, Leher, Megh, Sagar and Vayu, meaning in that order, fire, sky, lightning, water, wave, cloud, sea and wind. Five of these names (that is, up to Leher) have been used so far.
Which name suggested by India has not been used so far?
When a patient inherits a disease as a recessive autosomal character
Which among the following is a rare autosomal recessive disease that manifests with DI, diabetes mellitus, optic atrophy, and deafness (DIDMOAD)?
Read the passage carefully and choose the best answer to each question out of the four alternatives.
Eight north Indian Ocean countries, namely, Bangladesh, India, the Maldives, Myanmar, Oman, Pakistan, Sri Lanka and Thailand, were asked to contribute names so that a combined list could be compiled. Each country gave eight names and a combined list of 64 names was prepared. This list is currently in use, and all cyclones arising in the north Indian Ocean are named from this list, with one name from each country being used in turn. Almost 38 or 39 names from the list have been used up, but since many cyclones dissipate long before they hit land, their names rarely figure in the papers or other media. The names that people do know about, and remember are, naturally, those that were most destructive ones, or very recent. Aila, in 2009 is remembered with a shudder for the enormous destruction it caused in West Bengal and Bangladesh; Phaillin, also for the damage it caused when it hit the Odisha coast in 2013. Two harmless cyclones, which also might remain in peoples memory, are the more recent ones of 2014 — Hudhud, which threatened the east coast of India and Nilofar, which was expected to, but did not, devastate the western coast. The names in the cyclone list are usually words one associates with storms; words which mean water or wind or lightning in various national languages. Sometimes they are names of other things — birds or flowers or precious stones. The name Aila, contributed by the Maldives means fire, the name Phaillin from Thailand means sapphire, the name Hudhud from Oman is the name of a bird, probably the hoopoe, and the name Nilofar, given by Pakistan, is the Urdu name of the lotus or water lily. The eight names suggested by India, and which are in the list of 64, are Agni, Akaash, Bijli, Jal, Leher, Megh, Sagar and Vayu, meaning in that order, fire, sky, lightning, water, wave, cloud, sea and wind. Five of these names (that is, up to Leher) have been used so far.
Which country did not contribute to the list of the cyclone names?
Read the passage carefully and choose the best answer to each question out of the four alternatives.
Eight north Indian Ocean countries, namely, Bangladesh, India, the Maldives, Myanmar, Oman, Pakistan, Sri Lanka and Thailand, were asked to contribute names so that a combined list could be compiled. Each country gave eight names and a combined list of 64 names was prepared. This list is currently in use, and all cyclones arising in the north Indian Ocean are named from this list, with one name from each country being used in turn. Almost 38 or 39 names from the list have been used up, but since many cyclones dissipate long before they hit land, their names rarely figure in the papers or other media. The names that people do know about, and remember are, naturally, those that were most destructive ones, or very recent. Aila, in 2009 is remembered with a shudder for the enormous destruction it caused in West Bengal and Bangladesh; Phaillin, also for the damage it caused when it hit the Odisha coast in 2013. Two harmless cyclones, which also might remain in peoples memory, are the more recent ones of 2014 — Hudhud, which threatened the east coast of India and Nilofar, which was expected to, but did not, devastate the western coast. The names in the cyclone list are usually words one associates with storms; words which mean water or wind or lightning in various national languages. Sometimes they are names of other things — birds or flowers or precious stones. The name Aila, contributed by the Maldives means fire, the name Phaillin from Thailand means sapphire, the name Hudhud from Oman is the name of a bird, probably the hoopoe, and the name Nilofar, given by Pakistan, is the Urdu name of the lotus or water lily. The eight names suggested by India, and which are in the list of 64, are Agni, Akaash, Bijli, Jal, Leher, Megh, Sagar and Vayu, meaning in that order, fire, sky, lightning, water, wave, cloud, sea and wind. Five of these names (that is, up to Leher) have been used so far.
Which of the following names is a type of a precious stone?