Antisynthetase syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 30 |
| OrphanetNr: | 81 |
| OMIM Id: |
|
| ICD-10: |
D89.8 |
| UMLs: |
C2609059 |
| MeSH: |
C537778 |
| MedDRA: |
10068801 |
| Snomed: |
445187004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Idiopathic inflammatory myopathy
-Rare neurologic disease Systemic autoimmune disease -Rare systemic or rheumatologic disease |
Symptom Information:
|
|
(HPO:0000217) | Xerostomia | Frequent [Orphanet] | 35 / 7739 | |||
|
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(HPO:0001097) | Keratoconjunctivitis sicca | Frequent [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0002015) | Dysphagia | Occasional [Orphanet] | 301 / 7739 | |||
|
|
(HPO:0100749) | Chest pain | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0001373) | Joint dislocation | Occasional [Orphanet] | 59 / 7739 | |||
|
|
(HPO:0001063) | Acrocyanosis | Frequent [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0000989) | Pruritus | Occasional [Orphanet] | 111 / 7739 | |||
|
|
(HPO:0000988) | Skin rash | Occasional [Orphanet] | 98 / 7739 | |||
|
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(HPO:0100585) | Telangiectasia of the skin | Occasional [Orphanet] | 66 / 7739 | |||
|
|
(HPO:0100679) | Lack of skin elasticity | Frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
|
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(HPO:0001646) | Abnormality of the aortic valve | Occasional [Orphanet] | 55 / 7739 | |||
|
|
(HPO:0001637) | Abnormality of the myocardium | Occasional [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0002092) | Pulmonary hypertension | Occasional [Orphanet] | 109 / 7739 | |||
|
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(HPO:0001945) | Fever | Frequent [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0000969) | Edema | Frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0001608) | Abnormality of the voice | Occasional [Orphanet] | 126 / 7739 | |||
|
|
(HPO:0002206) | Pulmonary fibrosis | Very frequent [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
|
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(HPO:0002091) | Restrictive ventilatory defect | Very frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
|
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
|
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(HPO:0002960) | Autoimmunity | Very frequent [Orphanet] | 78 / 7739 | |||
|
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(HPO:0003326) | Myalgia | Very frequent [Orphanet] | 143 / 7739 | |||
|
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
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(HPO:0100614) | Myositis | Very frequent [Orphanet] | 21 / 7739 | |||
|
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(HPO:0003457) | EMG abnormality | Frequent [Orphanet] | 78 / 7739 | |||
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([DEL]MedDRA:10011224) | Cough | Very frequent [Orphanet] | 70 / 7739 | |||
|
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(HPO:0030089) | Abnormal muscle fiber protein expression | Frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|