| Chédiak-Higashi syndrome Classification and external resources |
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| ICD-10 | E70.3 (E70. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings E00-E35 - Endocrine diseases (E00-E07 Thyroid gland / Thyroid hormone ( Congenital iodine-deficiency syndrome ( 340 ILDS) |
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| ICD-9 | 288.2 |
| OMIM | 214500 |
| DiseasesDB | 2351 |
| eMedicine | derm/704 |
| MeSH | D002609 |
Chédiak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. The International League of Dermatological Societies (ILDS is a Non-governmental organization affiliated with the World Health Organization. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely two medical doctors Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism Lysosomal trafficking regulator is a Vesicular transport protein associated with Chédiak-Higashi syndrome. Lysosomal trafficking regulator is a Vesicular transport protein associated with Chédiak-Higashi syndrome. It occurs in humans, cattle, white tigers, blue Persian cats and orcas. Cattle, colloquially referred to as cows, are domesticated Ungulates a member of the Subfamily Bovinae of the family A white tiger ( Panthera tigris) is a Tiger with a genetic condition that nearly eliminates pigment in the normally orange fur although they still The Persian (Persia گربه ایرانی) is one of the oldest breeds of Cat. The Orca or Killer Whale ( Orcinus orca) less commonly Blackfish or Seawolf, is the largest species of the Oceanic dolphin family
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Eponym
It is named for Alexander Chédiak and Otokata Higashi. [1][2][3]
Presentation
It is a disease with impaired bacteriolysis[4] due to failure of phagolysosome formation. A phagolysosome is a membrane-enclosed Organelle which is formed from the fusing of a Lysosome and a Phagosome. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes. Lysosomes are Organelles that contain Digestive enzymes (acid Hydrolases. Degranulation is a cellular process that releases Antimicrobial Cytotoxic molecules from secretory vesicles called granules found inside In cell biology a phagosome is a Vacuole formed around a particle absorbed by Phagocytosis. The Bacteria ( singular: bacterium) are a large group of unicellular Microorganisms Typically a few Micrometres in length bacteria have Lysosomes are Organelles that contain Digestive enzymes (acid Hydrolases. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins
In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected. A cytotoxic T cell (also known as TC, CTL T-Killer cell cytolytic T cell CD8+ T-cells or killer T cell) belongs to a sub-group of T lymphocytes
The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly. Phagocytes are cells that are found in the blood bone marrow and other tissues of Vertebrates. A bactericide or bacteriocide is a substance that kills bacteria and preferably nothing else Anemia ( AmE) or anæmia/anaemia ( BrE) (from the Ancient Greek grc-Latn anaîmia, meaning “without blood” is defined as a qualitative Hepatomegaly is the condition of having an enlarged Liver. It is a nonspecific medical sign having many causes which can broadly be broken down into Infection
Clinical findings
There are several manifestations of Chédiak-Hegashi syndrome as mentioned above; however, neutropenia seems to be the most common. Neutropenia (adjective neutropenic) from Latin Prefix neutro- and Greek Suffix -πενία (deficiency is The syndrome is also associated with oculocutaneous albinism. Albinism (from Latin albus, "white" see extended etymology) is a form of hypopigmentary Congenital disorder, Persons are also prone for infections, especially with Staphylococcus aureus.
Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.
See also
- Griscelli syndrome (also known as "Chediak-Higashi like syndrome")
References
- ^ synd/1745 at Who Named It
- ^ M. Griscelli syndrome is a rare Autosomal recessive disorder characterized by Albinism (hypopigmentation with Immunodeficiency, that usually causes death Who Named It? is an English-language dictionary of medical eponyms and the People associated with their identification Chédiak. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Revue d'hématologie, Paris, 1952, 7:362-367.
- ^ O. Higashi. Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase. Tohoku Journal of Experimental Medicine, Sendai, 1953-1954, 59: 315-332.
- ^ Ch�diak-Higashi Syndrome: Immunodeficiency Disorders: Merck Manual Professional. Retrieved on 2008-03-01. 2008 ( MMVIII) is the current year in accordance with the Gregorian calendar, a Leap year that started on Tuesday of the Common Events 86 BC - Lucius Cornelius Sulla, at the head of a Roman Republic army enters in Athens, removing the Tyrant
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