reticular dysgenesis
Information
- Disease name
- reticular dysgenesis
- Disease ID
- DOID:0060020
- Description
- "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions." [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01186913 | Enrolling by invitation | Natural History Study of SCID Disorders | September 2, 2010 | September 2028 | |
| NCT01652092 | Recruiting | N/A | Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies | September 4, 2012 | December 2026 |
| NCT01346150 | Unknown status | Patients Treated for SCID (1968-Present) | May 15, 2011 | August 2023 |
- Disase is a (Disease Ontology)
- DOID:627
- Cross Reference ID (Disease Ontology)
- GARD:8625
- Cross Reference ID (Disease Ontology)
- MESH:C538361
- Cross Reference ID (Disease Ontology)
- MIM:267500
- Cross Reference ID (Disease Ontology)
- NCI:C27070
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:111584000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0272167
- Exact Synonym (Disease Ontology)
- De Vaal disease
- Disase Synonym (Disease Ontology)
- aleukocytosis
- OrphaNumber from OrphaNet (Orphanet)
- 33355