Omenn syndrome
Information
- Disease name
- Omenn syndrome
- Disease ID
- DOID:0060010
- Description
- "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly." [url:https\://en.wikipedia.org/wiki/Omenn_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/11213808, url:https\://www.ncbi.nlm.nih.gov/pubmed/14328107]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| IL2RG | X | 71,107,404 | 71,111,577 | 8 |
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 | |
| 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:8198
- Cross Reference ID (Disease Ontology)
- ICD10CM:D81.8
- Cross Reference ID (Disease Ontology)
- MIM:603554
- Exact Synonym (Disease Ontology)
- combined immunodeficiency with hypereosinophilia
- OrphaNumber from OrphaNet (Orphanet)
- 39041
- MedGen concept unique identifier (MedGen Concept name)
- C2700553
- MedGen unique identifier (MedGen Concept name)
- 398130