Buerger disease
General Information (adopted from Orphanet):
Synonyms, Signs: |
thromboangiitis obliterans |
Number of Symptoms | 17 |
OrphanetNr: | 36258 |
OMIM Id: |
211480
|
ICD-10: |
I73.1 |
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: | 16 of 100 000 [Orphanet] |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Predominantly medium-vessel vasculitis
-Rare circulatory system disease -Rare systemic or rheumatologic disease Secondary glomerular disease -Rare renal disease |
Symptom Information:
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(HPO:0001357) | Plagiocephaly | Occasional [Orphanet] | 106 / 7739 | |||
|
(HPO:0000763) | Sensory neuropathy | Frequent [Orphanet] | 78 / 7739 | |||
|
(HPO:0100785) | Insomnia | Occasional [Orphanet] | 18 / 7739 | |||
|
(HPO:0003474) | Sensory impairment | Frequent [Orphanet] | 54 / 7739 | |||
|
(HPO:0012531) | Pain | 9 / 7739 | ||||
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(HPO:0009763) | Limb pain | 7 / 7739 | ||||
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(HPO:0005059) | Arthralgia/arthritis | Frequent [Orphanet] | 141 / 7739 | |||
|
(HPO:0200042) | Skin ulcer | Very frequent [Orphanet] | 138 / 7739 | |||
|
(HPO:0001063) | Acrocyanosis | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0012089) | Arteritis | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0004420) | Arterial thrombosis | Very frequent [Orphanet] | 20 / 7739 | |||
|
(HPO:0100758) | Gangrene | Very frequent [Orphanet] | 25 / 7739 | |||
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(OMIM) | Coldness | 1 / 7739 | ||||
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(OMIM) | Red, elevated areas over venous valves | 1 / 7739 | ||||
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(OMIM) | Hyperhydrosis | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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