Chédiak-Higashi syndrome is a rare childhood autosomal recessive disorder that affects multiple systems of the body, which arises from a mutation that causes silvery hair. It is a disease with impaired leukocyte function due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes. In addition secretion of lytic secretory granules by cytotoxic T cells is also affected. The disease is characterised by large lysosome vesicles in phagocytes who have poor bactericidal function leading susceptibility to infections, abnormalities in nuclear structure of leukocytes, anaemia, hepatomegaly. In biology, mutations are changes to the genetic material (usually DNA or RNA). ...
Chédiak-Higashi like syndrome, (also known as Griscelli syndrome, Silvery hair syndrome, or Albinism partial immunodeficiency) is a similar rare childhood autosomal recessive disorder that causes hypopigmentation of the skin and the hair, and can cause a fatal hemophagocytic syndrome, for which the only cure is bone-marrow transplantation. Bone marrow transplantation (BMT) or hematopoietic stem cell transplantation (HSCT) is a medical procedure in the field of hematology and oncology that involves transplantation of hematopoietic stem cells (HSC). ...
Albinism is actually a group of several subtly different conditions that have a hereditary error of melanin metabolism in common.
Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age.
Albinism was one of the first genetic diseases to be identified in humans, but until quite recently little was known of the molecular mechanisms involved in its pathogenesis.
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
ABCD syndrome is an autosomal recessive syndrome characterized by albinism, fl lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness.
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