SAPHO syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
Number of Symptoms 24
OrphanetNr: 793
OMIM Id:
ICD-10: M86.3
UMLs:
MeSH:
MedDRA: 10051316
Snomed: 60684003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Pyogenic autoinflammatory syndrome
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
2
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
3
 (HPO:0002653) Bone pain Frequent [Orphanet] 75 / 7739
4
 (HPO:0100774) Hyperostosis Frequent [Orphanet] 17 / 7739
5
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
6
 (HPO:0002754) Osteomyelitis Frequent [Orphanet] 37 / 7739
7
 (HPO:0100781) Abnormality of the sacroiliac joint Frequent [Orphanet] 6 / 7739
8
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
9
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
10
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
11
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
12
 (HPO:0000765) Abnormality of the thorax Very frequent [Orphanet] 64 / 7739
13
 (HPO:0010622) Neoplasm of the skeletal system Frequent [Orphanet] 30 / 7739
14
 (HPO:0002037) Inflammation of the large intestine Frequent [Orphanet] 25 / 7739
15
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
16
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
17
 (HPO:0100847) Palmoplantar pustulosis Occasional [Orphanet] 2 / 7739
18
 (HPO:0001061) Acne Very frequent [Orphanet] 33 / 7739
19
 (HPO:0000988) Skin rash Occasional [Orphanet] 98 / 7739
20
 (HPO:0003765) Psoriasis Very frequent [Orphanet] 17 / 7739
21
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
22
 (HPO:0012089) Arteritis Occasional [Orphanet] 40 / 7739
23
 (HPO:0004936) Venous thrombosis Very frequent [Orphanet] 41 / 7739
24
 (HPO:0011227) Elevated C-reactive protein level Very frequent [Orphanet] 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: