MCID: SPH001
MIFTS: 50

Sapho Syndrome

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 77 54 60 15 17
Acquired Hyperostosis Syndrome 54 45
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 74
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 54
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 60
Synovitis Acne Pustulosis Hyperostosis Osteitis 54

Characteristics:

Orphanet epidemiological data:

60
sapho syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:



Summaries for Sapho Syndrome

NIH Rare Diseases : 54 SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.

MalaCards based summary : Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to osteomyelitis and synovitis. An important gene associated with Sapho Syndrome is LPIN2 (Lipin 2), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and Rheumatoid arthritis. The drugs Pamidronate and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are arthralgia and chest pain

Wikipedia : 77 SAPHO syndrome includes a variety of inflammatory bone disorders that may be associated with skin... more...

Related Diseases for Sapho Syndrome

Diseases related to Sapho Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.8 CXCL8 LPIN2
2 synovitis 30.8 CXCL8 IL18
3 pyoderma 30.3 CXCL8 NOD2
4 pyoderma gangrenosum 30.3 CXCL8 NOD2
5 bone inflammation disease 29.9 CXCL8 PTPN22
6 aseptic meningitis 29.8 CALCA CXCL8
7 inflammatory bowel disease 29.7 CXCL8 IL18 NOD2
8 arthritis 29.5 CXCL8 IL18 NOD2 PTPN22
9 rheumatoid arthritis 29.0 CXCL8 IL18 PTPN22
10 chronic recurrent multifocal osteomyelitis 11.5
11 pustulosis palmaris et plantaris 11.1
12 hyperostosis 10.7
13 bronchiolitis obliterans 10.4
14 bronchiolitis 10.4
15 pneumonia 10.4
16 spondylitis 10.3
17 psoriatic arthritis 10.2
18 thrombosis 10.2
19 spondyloarthropathy 1 10.1
20 crohn's disease 10.1
21 hidradenitis suppurativa 10.1
22 hidradenitis 10.1
23 pouchitis 10.1 CXCL8 NOD2
24 crohn's colitis 10.1 CXCL8 NOD2
25 engraftment syndrome 10.1 CALCA CXCL8
26 neurofibromatosis, type ii 10.1
27 colitis 10.1
28 spondyloarthropathy 10.1
29 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
30 inflammatory bowel disease 9 10.1 IL18 NOD2
31 inflammatory bowel disease 3 10.0 IL18 NOD2
32 mastitis 10.0 CXCL8 NOD2
33 bacterial sepsis 10.0 CALCA CXCL8
34 bacterial pneumonia 10.0 CALCA CXCL8
35 necrotizing fasciitis 10.0 CXCL8 IL18
36 acute graft versus host disease 10.0 IL18 NOD2
37 fasciitis 10.0 CXCL8 IL18
38 noma 10.0 CXCL8 IL18
39 pleural tuberculosis 10.0 CXCL8 IL18
40 acute cystitis 10.0 CXCL8 IL18
41 thrombophilia due to thrombin defect 10.0
42 ulcerative colitis 10.0
43 bone disease 10.0
44 ankylosis 10.0
45 dermatitis 10.0
46 amyloidosis 10.0
47 brucellosis 10.0 CXCL8 IL18
48 intestinal disease 9.9 CXCL8 NOD2
49 extrinsic allergic alveolitis 9.9 CXCL8 IL18
50 proteasome-associated autoinflammatory syndrome 1 9.9 CXCL8 IL18

Graphical network of the top 20 diseases related to Sapho Syndrome:



Diseases related to Sapho Syndrome

Symptoms & Phenotypes for Sapho Syndrome

Human phenotypes related to Sapho Syndrome:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
2 chest pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0100749
3 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
4 hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100774
5 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
6 craniofacial osteosclerosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005464
7 neoplasm of the skeletal system 60 33 hallmark (90%) Very frequent (99-80%) HP:0010622
8 synovitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100769
9 enthesitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100686
10 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
11 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
12 acne 60 33 frequent (33%) Frequent (79-30%) HP:0001061
13 osteomyelitis 60 33 frequent (33%) Frequent (79-30%) HP:0002754
14 abnormality of the sacroiliac joint 60 33 frequent (33%) Frequent (79-30%) HP:0100781
15 psoriasiform dermatitis 60 33 frequent (33%) Frequent (79-30%) HP:0003765
16 palmoplantar pustulosis 60 33 frequent (33%) Frequent (79-30%) HP:0100847
17 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
18 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
19 inflammation of the large intestine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002037
20 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
21 recurrent fractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002757
22 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
23 chronic diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002028
24 vasculitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002633
25 recurrent skin infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0001581
26 steatorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002570
27 malabsorption 60 Occasional (29-5%)
28 abnormality of the thorax 60 Very frequent (99-80%)
29 abnormality of the vertebral column 60 Frequent (79-30%)
30 pustule 60 Very frequent (99-80%)

Drugs & Therapeutics for Sapho Syndrome

Drugs for Sapho Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 2,Phase 1 40391-99-9 4674
2 Bone Density Conservation Agents Phase 1
3 Diphosphonates Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
2 Efficacy of Bisphosphonates in Patients With Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
3 Immune Response in the SAPHO Syndrome Completed NCT01688219

Search NIH Clinical Center for Sapho Syndrome

Cochrane evidence based reviews: acquired hyperostosis syndrome

Genetic Tests for Sapho Syndrome

Anatomical Context for Sapho Syndrome

MalaCards organs/tissues related to Sapho Syndrome:

42
Bone, Skin, Neutrophil, Brain, Spinal Cord, Thyroid

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 320)
# Title Authors Year
1
Skin inflammation associated with arthritis, synovitis and enthesitis. Part 1: psoriatic arthritis, SAPHO syndrome, Still's disease, Behçet's disease. ( 30615277 )
2019
2
SAPHO syndrome with enthesopathy. ( 30617190 )
2019
3
Monoclonal Gammopathy of Undetermined Significance in a Patient With Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome: Coincidence or Association? ( 30870251 )
2019
4
Three patterns of osteoarticular involvement in SAPHO syndrome: a cluster analysis based on whole body bone scintigraphy of 157 patients. ( 30624750 )
2019
5
SAPHO syndrome with pathological fractures of vertebral bodies: a case report. ( 30654792 )
2019
6
Oral care of a patient with a SAPHO syndrome and a nickel allergy. ( 30761569 )
2019
7
Imaging Follow-up of SAPHO Syndrome Treated With Zoledronic Acid. ( 30870255 )
2019
8
Biologics in SAPHO syndrome: A systematic review. ( 29773231 )
2018
9
Clinical symptoms, imaging, and treatment of SAPHO syndrome: a singlea89center study of 52 cases. ( 29726848 )
2018
10
A case of neutrophilic dermatoses including pyoderma gangrenosum as a continuous disease spectrum to SAPHO syndrome. ( 29756300 )
2018
11
Mandibular Involvement in Recurrent Multifocal Osteomyelitis Associated with SAPHO Syndrome. ( 29387665 )
2018
12
SAPHO Syndrome Masquerading as Metastatic Breast Cancer. ( 29755804 )
2018
13
Paradoxical skin lesions induced by anti-TNF-I+ agents in SAPHO syndrome. ( 29611085 )
2018
14
Serum Levels of proinflammatory, antiinflammatory cytokines and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) Syndrome. ( 29694253 )
2018
15
Case report: successful treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib. ( 29924019 )
2018
16
Small-cell Lung Cancer Associated with SAPHO Syndrome. ( 29033438 )
2018
17
Hidradenitis suppurativa with SAPHO syndrome maintained effectively with adalimumab, methotrexate, and intralesional corticosteroid injections. ( 29922466 )
2018
18
Unusual Case of Vogt-Koyanagi-Harada Disease Associated with SAPHO Syndrome: A Case Report. ( 29681837 )
2018
19
Clinical heterogeneity of SAPHO syndrome: Challenge of diagnosis. ( 29251057 )
2018
20
F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation. ( 29788984 )
2018
21
Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease? ( 30390722 )
2018
22
Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report. ( 30068763 )
2018
23
Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report. ( 30313072 )
2018
24
SAPHO syndrome in pediatric patients with inflammatory bowel disease treated with infliximab. ( 30274793 )
2018
25
Reduction of peripheral natural killer cells in patients with SAPHO syndrome. ( 29998837 )
2018
26
Mandibular Osteitis Leading to the Diagnosis of SAPHO Syndrome. ( 30009075 )
2018
27
A promising new treatment for SAPHO syndrome that deserves further studies. ( 30318810 )
2018
28
Failure of tocilizumab in treating two patients with refractory SAPHO syndrome: a case report. ( 30428761 )
2018
29
Bull's Head Sign in a Patient with SAPHO Syndrome ( 30457108 )
2018
30
Left Subclavian Vein Occlusion in a Patient With SAPHO Syndrome. ( 30586001 )
2018
31
SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a case with neutralizing anti-IFNI^ autoantibody. ( 28371927 )
2017
32
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
33
IL-23/Th17 targeted therapies in SAPHO syndrome. A case series. ( 28532819 )
2017
34
Clinical features and radiological findings of 67 patients with SAPHO syndrome. ( 28880693 )
2017
35
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
36
Whole-spine Computed Tomography Findings in SAPHO Syndrome. ( 28250144 )
2017
37
SAPHO syndrome associated with hidradenitis suppurativa and pyoderma gangrenosum successfully treated with adalimumab and methotrexate: a case report and review of the literature. ( 28884797 )
2017
38
Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome. ( 28500364 )
2017
39
Successful treatment of SAPHO syndrome with apremilast. ( 29034454 )
2017
40
Case report: remarkable remission of SAPHO syndrome in response to Tripterygium wilfordii hook f treatment. ( 29382023 )
2017
41
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity. ( 28545486 )
2017
42
Paradoxical SAPHO syndrome observed during anti-TNFI+ therapy for Crohn's disease. ( 28579754 )
2017
43
Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. ( 29276872 )
2017
44
Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. ( 28725947 )
2017
45
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017
46
A Case of Atypical Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle. ( 29323824 )
2017
47
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
48
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
49
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
50
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016

Variations for Sapho Syndrome

Expression for Sapho Syndrome

Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for Sapho Syndrome

Pathways related to Sapho Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.43 CXCL8 IL18
2 11.39 CXCL8 IL18
3 11.34 CXCL8 IL18
4 11.18 CXCL8 NOD2
5 11.12 CALCA CXCL8
6 11 CXCL8 IL18
7 10.85 CXCL8 IL18
8 10.65 CXCL8 IL18
9 10.24 IL18 NOD2

GO Terms for Sapho Syndrome

Biological processes related to Sapho Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.69 CALCA CXCL8 IL18
2 inflammatory response GO:0006954 9.65 CALCA CXCL8 IL18
3 cellular response to organic cyclic compound GO:0071407 9.49 IL18 NOD2
4 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.46 IL18 NOD2
5 regulation of cell adhesion GO:0030155 9.43 CXCL8 IL18
6 receptor internalization GO:0031623 9.4 CALCA CXCL8
7 lipopolysaccharide-mediated signaling pathway GO:0031663 9.37 IL18 PTPN22
8 positive regulation of interleukin-8 production GO:0032757 9.32 CALCA NOD2
9 positive regulation of interleukin-17 production GO:0032740 9.26 IL18 NOD2
10 neutrophil activation GO:0042119 9.16 CXCL8 IL18
11 cellular response to muramyl dipeptide GO:0071225 8.96 NOD2 PTPN22
12 positive regulation of protein K63-linked ubiquitination GO:1902523 8.62 NOD2 PTPN22

Sources for Sapho Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....