Omenn syndrome
Findings
No curated finding names Omenn syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
Definition from the Mondo Disease Ontology (MONDO:0011338), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
88 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent circulating B cellsHPOHP:0030252
- 3 of 3 reported patients
- Absent circulating T cellsHPOHP:0025805
- 1 of 1 reported patient
- Absent eyebrowHPOHP:0002223
- 1 of 1 reported patient
- Absent eyelashesHPOHP:0000561
- 1 of 1 reported patient
- Absent natural killer cellsHPOHP:0040219
- 1 of 1 reported patient
- AgammaglobulinemiaHPOHP:0004432
- 1 of 1 reported patient
- AlopeciaHPOHP:0001596
Show the remaining 76
- Brittle hairHPOHP:0002299
- 1 of 1 reported patient
- Cervical lymphadenopathyHPOHP:0025289
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to tetanus vaccineHPOHP:0410295
- 1 of 1 reported patient
- Congenital exfoliative erythrodermaHPOHP:0007381
- 5 of 5 reported patients
- CSF pleocytosisHPOHP:0012229
- 1 of 1 reported patient
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 1 of 1 reported patient
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCLRE1CHGNC:17642
- Definitive · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- RAG1HGNC:9831
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- RAG2HGNC:9832
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Omenn syndrome
- Also called
- combined immunodeficiency with hypereosinophilia