ORPHA:169105
Thymoma-hypogammaglobulinemia syndrome
Synonyms: Good syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thymoma-hypogammaglobulinemia syndrome | Good syndrome |
| fr | Syndrome de thymome-hypogammaglobulinémie | Syndrome de Good |
| de | Thymom-Hypogammaglobulinämie-Syndrom | Thymom-Immundefekt-Syndrom · Good-Syndrom |
| es | Síndrome de timoma-hipogammaglobulinemia | Síndrome de Good |
| it | Sindrome Ipogammaglobulinemia-Timoma | Sindrome di Good |
| nl | Thymoom - hypogammaglobulinemie-syndroom | Syndroom van Good |
| pt | Síndrome Good | |
| pl | Zespół Gooda | Grasiczak - Niedobór odporności |
| cs | Goodův syndrom | Hypogamaglobulinemie spojená s thymomem |
| uk | Синдром Гуда | Тимоматозно-імунодефіцитний синдром |
| zh | Good 综合征 | 胸腺瘤-免疫缺陷综合征 |
| tr | Good sendromu | Timoma-immün yetmezlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4B40.2 | E | specific | validated |
| MONDO | 0015696 | E | validated | |
| UMLS | C0221027 | E | validated | |
| GARD | 8622 | E | validated | |
| MedDRA | 10079838 | 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 (1):
- ORPHA:718053Combined immunodeficiency with low CD4 and normal CD8
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 37729389[PMID]_ORPHANET |
| Cases/families | 241 cases | Worldwide | Case(s) | Validated | 20149753[PMID] |
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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004313 | Decreased circulating antibody level | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0100522 | Thymoma | |
| Frequent (79-30%) | ||
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0002110 | Bronchiectasis | |
| HP:0012735 | Cough | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0002094 | Dyspnea | |
| HP:0003473 | Fatigable weakness | |
| HP:0000508 | Ptosis | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000246 | Sinusitis | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002014 | Diarrhea | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169105
- This record as JSON: /data/d/169105.json