Chediak-Higashi syndrome
Information
- Disease name
- Chediak-Higashi syndrome
- Disease ID
- DOID:2935
- Description
- "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42." [url:http\://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25129365]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00176865 | Completed | Phase 2 | Stem Cell Transplant for Immunologic or Histiocytic Disorders | August 2002 | August 2014 |
| NCT01917708 | Completed | Phase 1 | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases | January 2014 | September 19, 2019 |
| NCT00005917 | Recruiting | Study of Chediak-Higashi Syndrome | September 10, 2002 | ||
| NCT01652092 | Recruiting | N/A | Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies | September 4, 2012 | December 2026 |
| NCT01821781 | Recruiting | Phase 2 | Immune Disorder HSCT Protocol | March 2013 | March 2027 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT00006054 | Terminated | N/A | Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies | March 2000 | December 2002 |
| NCT00176826 | Terminated | Phase 2/Phase 3 | T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders | September 2000 | August 2015 |
| NCT01319851 | Terminated | N/A | Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation | September 2010 | September 2013 |
| NCT00006056 | Unknown status | N/A | Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders | March 2000 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6035
- Cross Reference ID (Disease Ontology)
- ICD10CM:E70.330
- Cross Reference ID (Disease Ontology)
- MESH:D002609
- Cross Reference ID (Disease Ontology)
- MIM:214500
- Cross Reference ID (Disease Ontology)
- NCI:C2941
- Cross Reference ID (Disease Ontology)
- ORDO:167
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:111396008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0007965
- Exact Synonym (Disease Ontology)
- Chediak - Steinbrinck anomaly
- Exact Synonym (Disease Ontology)
- CHS
- MeSH unique ID (MeSH (Medical Subject Headings))
- D002609