Tag: genetic disorder

  • Bulbospinal Muscular Atrophy, X-linked

    Bulbospinal Muscular Atrophy, X-linked Definition and Description of Bulbospinal Muscular Atrophy, X-linked Bulbospinal Muscular Atrophy, X-linked (BSMA) is a genetic disorder characterized by the degeneration of motor neurons in the brainstem and spinal cord, leading to muscle weakness and atrophy. This condition is caused by mutations in the gene coding for the androgen receptor (AR)…

  • Bilateral Acoustic Neurofibromatosis

    Bilateral Acoustic Neurofibromatosis Definition and Description of Bilateral Acoustic Neurofibromatosis Bilateral Acoustic Neurofibromatosis, often referred to as Neurofibromatosis Type II (NF2), is a rare genetic disorder characterized by the growth of noncancerous tumors on the vestibulocochlear nerve, which can lead to hearing loss, balance issues, and other neurological problems. The tumors, known as vestibular schwannomas…

  • Argininemia

    Argininemia Definition and Description of Argininemia Argininemia is a rare autosomal recessive disorder primarily affecting the metabolism of the amino acid arginine. It is classified as a urea cycle disorder, wherein the body is unable to adequately process nitrogen, leading to an accumulation of toxic substances. This condition is caused by a deficiency of the…

  • Alpha-1-Antitrypsin Deficiency

    Alpha-1-Antitrypsin Deficiency Definition and Description of Alpha-1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency (AAT deficiency) is a genetic disorder that results in low levels of alpha-1-antitrypsin (AAT), a protein produced by the liver. This protein plays a crucial role in protecting the lungs from damage caused by infections and inflammation. Individuals with AAT deficiency are at a higher…

  • Apert Syndrome

    Apert Syndrome Definition and Description of Apert Syndrome Apert Syndrome is a congenital disorder characterized by the premature fusion of certain skull bones, known as craniosynostosis. This condition affects the development of the skull, which can lead to an abnormal head shape and facial features. Individuals with Apert Syndrome may also experience fusion of fingers…

  • Alpha-1

    Alpha-1 Definition and Description of Alpha-1 Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic disorder characterized by insufficient levels of the protein alpha-1 antitrypsin (AAT), which plays a crucial role in protecting the lungs and liver from damage. This deficiency can lead to various health complications, particularly affecting respiratory and liver functions. AAT is produced in…

  • ALD

    ALD Definition and Description of ALD Adrenoleukodystrophy (ALD) is a genetic disorder that affects the adrenal glands and the white matter of the brain. It is caused by the inability to metabolize very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene located on the X chromosome. This leads to the accumulation of…

  • Achondroplasia

    Achondroplasia Definition and Description of Achondroplasia Achondroplasia is a genetic disorder characterized by an abnormality in bone growth, leading to dwarfism. It is one of the most common forms of skeletal dysplasia and is caused by mutations in the FGFR3 gene (fibroblast growth factor receptor 3). This condition typically results in disproportionate short stature, with…

  • Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

    Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Definition and Description of Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is a rare genetic disorder characterized by the absence or dysfunction of the enzyme adenosine deaminase, which is crucial for the proper development and functioning of the immune system. This condition is categorized…

  • AAT

    AAT Definition and Description of AAT Alpha-1 Antitrypsin (AAT) is a protein produced in the liver that serves as a crucial part of the body’s defense against proteolytic enzymes, particularly elastase, which can damage lung tissue. AAT deficiency is a genetic disorder that results in insufficient levels of this protein, making individuals more susceptible to…