ORPHA:793
SAPHO syndrome
Synonyms: Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SAPHO syndrome | Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome |
| fr | Syndrome SAPHO | Syndrome de synovite-acné-pustulose-hyperostose-ostéite |
| de | SAPHO-Syndrom | Synovitis - Akne - Pustulosis - Hyperostose - Osteitis |
| es | Síndrome SAPHO | |
| it | Sindrome SAPHO | Sinovite - acne - pustolosi - iperostosi - osteite |
| nl | SAPHO-syndroom | Synovitis - acne - pustulose - hyperostose - osteïtis |
| pt | Síndrome SAPHO | Síndrome de sinovite-acne-pustulose-hiperostose-osteíte |
| pl | Zespół SAPHO | Synovitis-acne-pustulosis-hyperostosis-osteitis syndromeZespół zapalenie błony maziowej - trądzik - łuszczyca - hiperostoza - zapalenie kości |
| cs | SAPHO syndrom | Syndrom zahrnující synovitidu, akné, pustulózu, hyperostózu a osteitidu |
| uk | Синдром SAPHO | Синдром синовіту-акне-пустульозу-гіперостозу-остеїту |
| zh | SAPHO综合征 | 滑膜炎-痤疮-脓疱病-骨质增生-骨炎综合征 |
| tr | SAPHO sendromu | Sinovit-akne-püstüloz-hiperostoz-osteit sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M86.3 | NTBT | attributed | validated |
| ICD-11 | 4A61 | E | specific | validated |
| MONDO | 0019266 | E | validated | |
| MeSH | D020083 | E | validated | |
| UMLS | C0263859 | E | validated | |
| GARD | 7606 | E | validated | |
| MedDRA | 10051316 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:653434Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
rare skin diseases; rare systemic and rheumatological diseases - ORPHA:486955Rare pediatric rheumatologic disease
rare systemic or rheumatologic diseases of childhood
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:324982OBSOLETE: Adult-onset SAPHO syndrome referred to · inactive
- ORPHA:324989OBSOLETE: Juvenile-onset SAPHO syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0100749 | Chest pain | |
| HP:0005464 | Craniofacial osteosclerosis | |
| HP:0100686 | Enthesitis | |
| HP:0100774 | Hyperostosis | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0002797 | Osteolysis | |
| HP:0200039 | Pustule | |
| HP:0100769 | Synovitis | |
| Frequent (79-30%) | ||
| HP:0100781 | Abnormality of the sacroiliac joint | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0001061 | Acne | |
| HP:0001369 | Arthritis | |
| HP:0000969 | Edema | |
| HP:0002754 | Osteomyelitis | |
| HP:0100847 | Palmoplantar pustulosis | |
| HP:0003765 | Psoriasiform dermatitis | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002028 | Chronic diarrhea | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0002024 | Malabsorption | |
| HP:0002757 | Recurrent fractures | |
| HP:0001581 | Recurrent skin infections | |
| HP:0000988 | Skin rash | |
| HP:0002570 | Steatorrhea | |
| HP:0002633 | Vasculitis | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 11 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/793
- This record as JSON: /data/d/793.json