Chediak-Higashi Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Chediak-Higashi Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Age of onset: Childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases, Blood diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases
Rare immunological diseases
NIH Rare Diseases:46 Chediak-higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). complications from this syndrome can become life-threatening. it is caused by mutations in the lyst gene and is inherited in an autosomal recessive fashion. last updated: 11/7/2011
MalaCards based summary: Chediak-Higashi Syndrome, also known as chs, is related to attenuated chédiak-higashi syndrome and congenital hypothyroidism, and has symptoms including gingival bleeding, periodontitis and bruising susceptibility. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include bone, bone marrow and neutrophil, and related mouse phenotypes are pigmentation and vision/eye.
Disease Ontology:11 An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the chs1 gene.
UniProtKB/Swiss-Prot:68 Chediak-Higashi syndrome: A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).
Genetics Home Reference:24 Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
Wikipedia:69 Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a... more...
Description from OMIM:50 214500
GeneReviews summary for NBK5188
Symptoms by clinical synopsis from OMIM:214500
Clinical features from OMIM:214500
Symptoms:52 (show all 45)
HPO human phenotypes related to Chediak-Higashi Syndrome:(show all 60)
UMLS symptoms related to Chediak-Higashi Syndrome:hepatomegaly, seizures, tremor, photophobia, muscle weakness, decreased tendon reflex
Drugs for Chediak-Higashi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 29)
Interventional clinical trials:(show all 13)
Search NIH Clinical Center for Chediak-Higashi Syndrome
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Chediak-Higashi Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Chediak-Higashi Syndrome:
Embryonic/Adult Cultured Cells Related to Chediak-Higashi Syndrome:
MalaCards organs/tissues related to Chediak-Higashi Syndrome:34
Bone, Bone marrow, Neutrophil, Skin, Eye, T cells, Cerebellum
MGI Mouse Phenotypes related to Chediak-Higashi Syndrome:39
Articles related to Chediak-Higashi Syndrome:(show top 50) (show all 349)
UniProtKB/Swiss-Prot genetic disease variations for Chediak-Higashi Syndrome:68
Clinvar genetic disease variations for Chediak-Higashi Syndrome:5 (show all 41)
Search GEO for disease gene expression data for Chediak-Higashi Syndrome.
Pathways related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Chediak-Higashi Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet