Cogan syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 68 |
| OrphanetNr: | 1467 |
| OMIM Id: |
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| ICD-10: |
H16.3 |
| UMLs: |
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| MeSH: |
D055952 |
| MedDRA: |
10056667 |
| Snomed: |
405810005 |
Prevalence, inheritance and age of onset:
| Prevalence: | 200 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Predominantly large-vessel vasculitis
-Rare circulatory system disease -Rare systemic or rheumatologic disease Rare inflammatory eye disease -Rare eye disease Rare otorhinolaryngologic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0100796) | Orchitis | Occasional [Orphanet] | 7 / 7739 | |||
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(HPO:0100639) | Erectile abnormalities | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0011830) | Abnormality of oral mucosa | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000613) | Photophobia | Frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000360) | Tinnitus | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0002141) | Gait imbalance | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001287) | Meningitis | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0007256) | Abnormal pyramidal signs | Occasional [Orphanet] | 116 / 7739 | |||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0002353) | EEG abnormality | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Occasional [Orphanet] | 160 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0100661) | Trigeminal neuralgia | Occasional [Orphanet] | 3 / 7739 | |||
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(HPO:0000853) | Goiter | Occasional [Orphanet] | 39 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0100662) | Chondritis | Occasional [Orphanet] | 2 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0002239) | Gastrointestinal hemorrhage | Occasional [Orphanet] | 97 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0001513) | Obesity | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0000988) | Skin rash | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0001025) | Urticaria | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0010783) | Erythema | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0001063) | Acrocyanosis | Occasional [Orphanet] | 56 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0002140) | Ischemic stroke | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0001637) | Abnormality of the myocardium | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0000822) | Hypertension | Occasional [Orphanet] | 224 / 7739 | |||
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(HPO:0002616) | Aortic root dilatation | Occasional [Orphanet] | 27 / 7739 | |||
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(HPO:0011025) | Abnormality of cardiovascular system physiology | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001697) | Abnormality of the pericardium | Occasional [Orphanet] | 52 / 7739 | |||
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(HPO:0002617) | Aneurysm | Occasional [Orphanet] | 34 / 7739 | |||
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(HPO:0001646) | Abnormality of the aortic valve | Occasional [Orphanet] | 55 / 7739 | |||
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(HPO:0001654) | Abnormality of the heart valves | Occasional [Orphanet] | 49 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0001677) | Coronary artery disease | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0012089) | Arteritis | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0004420) | Arterial thrombosis | Frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
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(HPO:0011227) | Elevated C-reactive protein level | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0002113) | Pulmonary infiltrates | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0002091) | Restrictive ventilatory defect | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0002105) | Hemoptysis | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0002103) | Abnormality of the pleura | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0002960) | Autoimmunity | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0002716) | Lymphadenopathy | Occasional [Orphanet] | 129 / 7739 | |||
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(HPO:0003326) | Myalgia | Occasional [Orphanet] | 143 / 7739 | |||
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(HPO:0100614) | Myositis | Occasional [Orphanet] | 21 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Occasional [Orphanet] | 70 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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