Good syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
Thymoma-immunodeficiency |
Number of Symptoms | 20 |
OrphanetNr: | 169105 |
OMIM Id: |
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Acquired immunodeficiency
-Rare immune disease |
Symptom Information:
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(HPO:0000010) | Recurrent urinary tract infections | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000246) | Sinusitis | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0003473) | Fatigable weakness | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Occasional [Orphanet] | 224 / 7739 | |||
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(HPO:0010701) | Abnormal immunoglobulin level | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0001877) | Abnormality of erythrocytes | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0002110) | Bronchiectasis | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
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(HPO:0100521) | Neoplasm of the thymus | Very frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0010515) | Aplasia/Hypoplasia of the thymus | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0100721) | Mediastinal lymphadenopathy | Very frequent [Orphanet] | 19 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Frequent [Orphanet] | 70 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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