Relapsing polychondritis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 62 |
| OrphanetNr: | 728 |
| OMIM Id: |
|
| ICD-10: |
M94.1 |
| UMLs: |
C0032453 |
| MeSH: |
D011081 |
| MedDRA: |
10038304 |
| Snomed: |
72275000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Secondary glomerular disease
-Rare renal disease Systemic autoimmune disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
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(HPO:0100820) | Glomerulopathy | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0000790) | Hematuria | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
|
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(HPO:0000093) | Proteinuria | Occasional [Orphanet] | 169 / 7739 | |||
|
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000246) | Sinusitis | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0011830) | Abnormality of oral mucosa | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | 70 / 7739 | ||||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0200047) | Chondritis of pinna | Very frequent [Orphanet] | 1 / 7739 | |||
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(HPO:0000360) | Tinnitus | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0000356) | Abnormality of the outer ear | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Occasional [Orphanet] | 164 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0006824) | Cranial nerve paralysis | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0002141) | Gait imbalance | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Occasional [Orphanet] | 327 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0100773) | Cartilage destruction | Frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0002797) | Osteolysis | Frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0100662) | Chondritis | Very frequent [Orphanet] | 2 / 7739 | |||
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(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0001396) | Cholestasis | Occasional [Orphanet] | 136 / 7739 | |||
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(HPO:0010783) | Erythema | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001025) | Urticaria | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001933) | Subcutaneous hemorrhage | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0001697) | Abnormality of the pericardium | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
|
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(HPO:0001637) | Abnormality of the myocardium | Occasional [Orphanet] | 76 / 7739 | |||
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(HPO:0001677) | Coronary artery disease | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0001646) | Abnormality of the aortic valve | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0004306) | Abnormality of the endocardium | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0012089) | Arteritis | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0002616) | Aortic root dilatation | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0002617) | Aneurysm | 34 / 7739 | ||||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0004420) | Arterial thrombosis | Occasional [Orphanet] | 20 / 7739 | |||
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(HPO:0002863) | Myelodysplasia | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0011227) | Elevated C-reactive protein level | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Occasional [Orphanet] | 61 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0002777) | Tracheal stenosis | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0002779) | Tracheomalacia | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0002960) | Autoimmunity | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(MedDRA:10025421) | Macule | Occasional [Orphanet] | 55 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Frequent [Orphanet] | 70 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|