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 Cytokine Signaling in Immune system and Salmonella infection (KEGG). The drugs Pamidronate and Bone Density Conservation Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spinal cord, 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 108)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.9 CXCL8 LPIN2
2 synovitis 30.8 CXCL8 IL18
3 pyoderma gangrenosum 30.3 CXCL8 NOD2
4 pyoderma 30.3 CXCL8 NOD2
5 arthritis 30.2 CXCL8 IL18 NOD2
6 aseptic meningitis 29.8 CALCA CXCL8
7 inflammatory bowel disease 29.8 CXCL8 IL18 NOD2
8 rheumatoid arthritis 28.8 CXCL8 IL18 VEGFA
9 chronic recurrent multifocal osteomyelitis 11.5
10 pustulosis palmaris et plantaris 11.1
11 bone inflammation disease 10.7
12 hyperostosis 10.7
13 neurofibromatosis, type ii 10.6
14 bronchiolitis obliterans 10.4
15 bronchiolitis 10.4
16 pneumonia 10.4
17 spondylitis 10.3
18 psoriatic arthritis 10.2
19 thrombosis 10.2
20 pouchitis 10.1 CXCL8 NOD2
21 crohn's colitis 10.1 CXCL8 NOD2
22 spondyloarthropathy 1 10.1
23 crohn's disease 10.1
24 hidradenitis suppurativa 10.1
25 hidradenitis 10.1
26 engraftment syndrome 10.1 CALCA CXCL8
27 inflammatory bowel disease 9 10.1 IL18 NOD2
28 mastitis 10.1 CXCL8 NOD2
29 colitis 10.1
30 spondyloarthropathy 10.1
31 dermatitis 10.1
32 inflammatory bowel disease 3 10.1 IL18 NOD2
33 bacterial sepsis 10.0 CALCA CXCL8
34 bacterial pneumonia 10.0 CALCA CXCL8
35 noma 10.0 CXCL8 IL18
36 necrotizing fasciitis 10.0 CXCL8 IL18
37 fasciitis 10.0 CXCL8 IL18
38 acute graft versus host disease 10.0 IL18 NOD2
39 pleural tuberculosis 10.0 CXCL8 IL18
40 acute cystitis 10.0 CXCL8 IL18
41 brucellosis 10.0 CXCL8 IL18
42 thrombophilia due to thrombin defect 10.0
43 ulcerative colitis 10.0
44 bone disease 10.0
45 ankylosis 10.0
46 amyloidosis 10.0
47 extrinsic allergic alveolitis 10.0 CXCL8 IL18
48 carcinoid syndrome 9.9 CALCA VEGFA
49 macular holes 9.9 CXCL8 VEGFA
50 tuberculous meningitis 9.9 CXCL8 VEGFA

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, Spinal Cord, Neutrophil, Brain, Heart, Thyroid

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 325)
# Title Authors Year
1
Skin inflammation associated with arthritis, synovitis and enthesitis. Part 1: psoriatic arthritis, SAPHO syndrome, Still's disease, Behçet's disease. ( 30958944 )
2019
2
Skin inflammation associated with arthritis, synovitis and enthesitis. Part 1: psoriatic arthritis, SAPHO syndrome, Still's disease, Behçet's disease. ( 30615277 )
2019
3
SAPHO syndrome with enthesopathy. ( 30617190 )
2019
4
Monoclonal Gammopathy of Undetermined Significance in a Patient With Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome: Coincidence or Association? ( 30870251 )
2019
5
Serum levels of proinflammatory, anti-inflammatory cytokines, and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. ( 29694253 )
2019
6
Reduction of peripheral natural killer cells in patients with SAPHO syndrome. ( 29998837 )
2019
7
Bull’s Head Sign in a Patient with SAPHO Syndrome ( 30457108 )
2019
8
Three patterns of osteoarticular involvement in SAPHO syndrome: a cluster analysis based on whole body bone scintigraphy of 157 patients. ( 30624750 )
2019
9
SAPHO syndrome with pathological fractures of vertebral bodies: a case report. ( 30654792 )
2019
10
Oral care of a patient with a SAPHO syndrome and a nickel allergy. ( 30761569 )
2019
11
Imaging Follow-up of SAPHO Syndrome Treated With Zoledronic Acid. ( 30870255 )
2019
12
Serum IgG4 elevation in SAPHO syndrome: does it unmask a disease activity marker? ( 31025928 )
2019
13
Paradoxical skin lesions induced by anti-TNF-α agents in SAPHO syndrome. ( 29611085 )
2019
14
Biologics in SAPHO syndrome: A systematic review. ( 29773231 )
2019
15
Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease? ( 30390722 )
2018
16
Hidradenitis suppurativa with SAPHO syndrome maintained effectively with adalimumab, methotrexate, and intralesional corticosteroid injections. ( 29922466 )
2018
17
Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report. ( 30068763 )
2018
18
SAPHO syndrome associated with hidradenitis suppurativa and pyoderma gangrenosum successfully treated with adalimumab and methotrexate: a case report and review of the literature. ( 28884797 )
2018
19
Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report. ( 30313072 )
2018
20
SAPHO syndrome in pediatric patients with inflammatory bowel disease treated with infliximab. ( 30274793 )
2018
21
Mandibular Involvement in Recurrent Multifocal Osteomyelitis Associated with SAPHO Syndrome. ( 29387665 )
2018
22
A case of neutrophilic dermatoses including pyoderma gangrenosum as a continuous disease spectrum to SAPHO syndrome. ( 29756300 )
2018
23
Mandibular Osteitis Leading to the Diagnosis of SAPHO Syndrome. ( 30009075 )
2018
24
A promising new treatment for SAPHO syndrome that deserves further studies. ( 30318810 )
2018
25
Failure of tocilizumab in treating two patients with refractory SAPHO syndrome: a case report. ( 30428761 )
2018
26
Left Subclavian Vein Occlusion in a Patient With SAPHO Syndrome. ( 30586001 )
2018
27
Spinal and sacroiliac involvement in SAPHO syndrome: A single center study of a cohort of 354 patients. ( 30935678 )
2018
28
SAPHO syndrome in childhood. A case report. ( 27993538 )
2018
29
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2018
30
Clinical features and radiological findings of 67 patients with SAPHO syndrome. ( 28880693 )
2018
31
Small-cell Lung Cancer Associated with SAPHO Syndrome. ( 29033438 )
2018
32
Successful treatment of SAPHO syndrome with apremilast. ( 29034454 )
2018
33
Clinical heterogeneity of SAPHO syndrome: Challenge of diagnosis. ( 29251057 )
2018
34
Unusual Case of Vogt-Koyanagi-Harada Disease Associated with SAPHO Syndrome: A Case Report. ( 29681837 )
2018
35
Clinical symptoms, imaging, and treatment of SAPHO syndrome: a single‑center study of 52 cases. ( 29726848 )
2018
36
SAPHO Syndrome Masquerading as Metastatic Breast Cancer. ( 29755804 )
2018
37
F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation. ( 29788984 )
2018
38
Case report: successful treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib. ( 29924019 )
2018
39
Paradoxical SAPHO syndrome observed during anti-TNFα therapy for Crohn's disease. ( 28579754 )
2017
40
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
41
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
42
Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. ( 29276872 )
2017
43
A Case of Atypical Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle. ( 29323824 )
2017
44
SAPHO syndrome presenting as an osteolytic lesion of the neck. ( 26793990 )
2017
45
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. ( 27846749 )
2017
46
Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy. ( 27936930 )
2017
47
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
48
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
49
Whole-spine Computed Tomography Findings in SAPHO Syndrome. ( 28250144 )
2017
50
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017

Variations for Sapho Syndrome

Expression for Sapho Syndrome

Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for Sapho Syndrome

GO Terms for Sapho Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 IL18 LPIN2 NOD2 VEGFA
2 cytokine-mediated signaling pathway GO:0019221 9.58 CXCL8 IL18 VEGFA
3 cellular response to organic cyclic compound GO:0071407 9.56 IL18 NOD2
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.55 IL18 VEGFA
5 positive regulation of epithelial cell proliferation GO:0050679 9.54 NOD2 VEGFA
6 angiogenesis GO:0001525 9.54 CXCL8 IL18 VEGFA
7 positive regulation of MAP kinase activity GO:0043406 9.52 NOD2 VEGFA
8 inflammatory response GO:0006954 9.49 CXCL8 IL18
9 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.48 IL18 NOD2
10 regulation of cell adhesion GO:0030155 9.46 CXCL8 IL18
11 receptor internalization GO:0031623 9.43 CALCA CXCL8
12 positive regulation of interleukin-8 production GO:0032757 9.32 CALCA NOD2
13 induction of positive chemotaxis GO:0050930 9.26 CXCL8 VEGFA
14 positive regulation of interleukin-17 production GO:0032740 9.16 IL18 NOD2
15 neutrophil activation GO:0042119 8.96 CXCL8 IL18
16 regulation of signaling receptor activity GO:0010469 8.92 CALCA CXCL8 IL18 VEGFA

Molecular functions related to Sapho Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CXCL8 IL18 VEGFA

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
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