ORPHA:39041
Omenn syndrome
Synonyms: Combined immunodeficiency with hypereosinophilia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Omenn syndrome | Combined immunodeficiency with hypereosinophilia |
| fr | Syndrome d'Omenn | Déficit immunitaire combiné avec hyperéosinophilie |
| de | Omenn-Syndrom | Immundefekt, kombinierter schwerer - Hypereosinophilie |
| es | Síndrome de Omenn | Inmunodeficiencia combinada con hipereosinofilia |
| it | Sindrome di Omenn | Immunodeficienza combinata con ipereosinofilia |
| nl | Syndroom van Omenn | Gecombineerde immuundeficiëntie met hypereosinofilie |
| pt | Síndrome Omenn | Imunodeficiência combinada com hipereosinofilia |
| pl | Zespół Omenna | Złożony Niedobór odporności z hipereozynofilią |
| cs | Omennův syndrom | Kombinovaná imunodeficience s hypereosinofilií |
| uk | Синдром Оменна | Комбінований імунодефіцит з гіпереозинофілією |
| zh | Omenn综合征 | 免疫缺陷合并嗜酸性粒细胞增多 |
| tr | Omenn sendromu | Hipereozinofili ile seyreden kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603554 | BTNT | validated | |
| OMIM | 620807 | BTNT | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.10 | NTBT | index | validated |
| MONDO | 0011338 | E | validated | |
| UMLS | C2700553 | E | validated | |
| GARD | 8198 | E | validated | |
| MedDRA | 10069097 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADA | Disease-causing germline mutation(s) in | Assessed | HGNC:186 | ENSG00000196839 | 608958 | 20q13.12 | adenosine deaminase | |
| CHD7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20626 | ENSG00000171316 | 608892 | 8q12.2 | chromodomain helicase DNA binding protein 7 | |
| DCLRE1C | Disease-causing germline mutation(s) in | Assessed | HGNC:17642 | ENSG00000152457 | 605988 | 10p13 | DNA cross-link repair 1C | |
| IL2RG | Disease-causing germline mutation(s) in | Assessed | HGNC:6010 | ENSG00000147168 | 308380 | Xq13.1 | interleukin 2 receptor subunit gamma | |
| IL7R | Disease-causing germline mutation(s) in | Assessed | HGNC:6024 | ENSG00000168685 | 146661 | 5p13.2 | interleukin 7 receptor | |
| NUDCD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:22208 | ENSG00000015676 | 610296 | 7p13 | NudC domain containing 3 | 38787962[PMID] |
| PSMB10 | Disease-causing germline mutation(s) in | Assessed | HGNC:9538 | ENSG00000205220 | 176847 | 16q22.1 | proteasome 20S subunit beta 10 | 38503300[PMID] |
| RAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9831 | ENSG00000166349 | 179615 | 11p12 | recombination activating 1 | |
| RAG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9832 | ENSG00000175097 | 179616 | 11p12 | recombination activating 2 | |
| RMRP | Disease-causing germline mutation(s) in | Assessed | HGNC:10031 | ENSG00000277027 | 157660 | 9p13.3 | RNA component of mitochondrial RNA processing endoribonuclease |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004332 | Abnormal lymphocyte morphology | |
| HP:0001596 | Alopecia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0001019 | Erythroderma | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0004430 | Severe combined immunodeficiency | |
| Frequent (79-30%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0007549 | Desquamation of skin soon after birth | |
| HP:0000958 | Dry skin | |
| HP:0000969 | Edema | |
| HP:0001945 | Fever | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002090 | Pneumonia | |
| HP:0000989 | Pruritus | |
| HP:0001744 | Splenomegaly | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001903 | Anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0000821 | Hypothyroidism | |
| HP:0002665 | Lymphoma | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0100806 | Sepsis | |
| HP:0001831 | Short toe | |
| HP:0100646 | Thyroiditis | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/39041
- This record as JSON: /data/d/39041.json