MCID: SPH001
MIFTS: 51

Sapho Syndrome

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 76 53 59 15
Acquired Hyperostosis Syndrome 53 44
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 73
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 53
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 59
Synovitis Acne Pustulosis Hyperostosis Osteitis 53

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 Corticotropin-releasing hormone signaling pathway. The drugs Pamidronate and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are edema and skin rash

Wikipedia : 76 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 92)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.7 CXCL8 LPIN2
2 synovitis 30.3 CXCL8 IL18
3 pyoderma gangrenosum 30.2 CXCL8 NOD2
4 pyoderma 30.2 CXCL8 NOD2
5 septic arthritis 29.1 CALCA CXCL8
6 chronic recurrent multifocal osteomyelitis 11.3
7 pustulosis palmaris et plantaris 10.9
8 hyperostosis 10.5
9 pouchitis 10.3 CXCL8 NOD2
10 crohn's colitis 10.2 CXCL8 NOD2
11 arthritis 10.2
12 inflammatory bowel disease 9 10.1 IL18 NOD2
13 spondylitis 10.1
14 macular holes 10.1 CXCL8 VEGFA
15 inflammatory bowel disease 3 10.1 IL18 NOD2
16 tuberculous meningitis 10.1 CXCL8 VEGFA
17 mastitis 10.1 CXCL8 NOD2
18 primary peritoneal carcinoma 10.1 CXCL8 VEGFA
19 thrombosis 10.1
20 female reproductive system disease 10.0 CXCL8 VEGFA
21 necrotizing fasciitis 10.0 CXCL8 IL18
22 noma 10.0 CXCL8 IL18
23 microvascular complications of diabetes 1 10.0 CXCL8 VEGFA
24 intestinal disease 10.0 CXCL8 NOD2
25 acute graft versus host disease 10.0 IL18 NOD2
26 pleural tuberculosis 10.0 CXCL8 IL18
27 psoriatic arthritis 10.0
28 acute cystitis 10.0 CXCL8 IL18
29 idiopathic interstitial pneumonia 10.0 CXCL8 VEGFA
30 spondyloarthropathy 1 10.0
31 crohn's disease 10.0
32 fasciitis 10.0 CXCL8 IL18
33 sleep apnea 9.9 CXCL8 VEGFA
34 rheumatoid arthritis 9.9
35 colitis 9.9
36 spondyloarthropathy 9.9
37 hidradenitis suppurativa 9.9
38 hidradenitis 9.9
39 cervicitis 9.9
40 autoinflammation, lipodystrophy, and dermatosis syndrome 9.9 CXCL8 IL18
41 endometriosis 9.8 CXCL8 VEGFA
42 engraftment syndrome 9.8 CALCA CXCL8
43 thrombophilia due to thrombin defect 9.8
44 ulcerative colitis 9.8
45 inflammatory bowel disease 9.8
46 bone disease 9.8
47 mucositis 9.8
48 ankylosis 9.8
49 amyloidosis 9.8
50 carcinoid syndrome 9.8 CALCA 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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
2 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
3 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
4 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
5 recurrent skin infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0001581
6 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 chronic diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002028
8 inflammation of the large intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002037
9 steatorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002570
10 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
11 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
12 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
13 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
14 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
15 psoriasiform dermatitis 59 32 frequent (33%) Frequent (79-30%) HP:0003765
16 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
17 craniofacial osteosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005464
18 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
19 neoplasm of the skeletal system 59 32 hallmark (90%) Very frequent (99-80%) HP:0010622
20 enthesitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100686
21 synovitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100769
22 abnormality of the sacroiliac joint 59 32 frequent (33%) Frequent (79-30%) HP:0100781
23 palmoplantar pustulosis 59 32 frequent (33%) Frequent (79-30%) HP:0100847
24 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
25 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
26 hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100774
27 abnormality of the thorax 59 Very frequent (99-80%)
28 abnormality of the vertebral column 59 Frequent (79-30%)
29 malabsorption 59 Occasional (29-5%)
30 pustule 59 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 Diphosphonates Phase 1
3 Bone Density Conservation Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate Recruiting 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:

41
Bone, Skin, Neutrophil, Thyroid, Heart, Brain, Spinal Cord

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 291)
# Title Authors Year
1
Biologics in SAPHO syndrome: A systematic review. ( 29773231 )
2018
2
Clinical symptoms, imaging, and treatment of SAPHO syndrome: a singlea89center study of 52 cases. ( 29726848 )
2018
3
A case of neutrophilic dermatoses including pyoderma gangrenosum as a continuous disease spectrum to SAPHO syndrome. ( 29756300 )
2018
4
Mandibular Involvement in Recurrent Multifocal Osteomyelitis Associated with SAPHO Syndrome. ( 29387665 )
2018
5
SAPHO Syndrome Masquerading as Metastatic Breast Cancer. ( 29755804 )
2018
6
Paradoxical skin lesions induced by anti-TNF-I+ agents in SAPHO syndrome. ( 29611085 )
2018
7
Serum Levels of proinflammatory, antiinflammatory cytokines and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) Syndrome. ( 29694253 )
2018
8
Case report: successful treatment of refractory SAPHO syndrome with the JAK inhibitor tofacitinib. ( 29924019 )
2018
9
Small-cell Lung Cancer Associated with SAPHO Syndrome. ( 29033438 )
2018
10
Hidradenitis suppurativa with SAPHO syndrome maintained effectively with adalimumab, methotrexate, and intralesional corticosteroid injections. ( 29922466 )
2018
11
Unusual Case of Vogt-Koyanagi-Harada Disease Associated with SAPHO Syndrome: A Case Report. ( 29681837 )
2018
12
Clinical heterogeneity of SAPHO syndrome: Challenge of diagnosis. ( 29251057 )
2018
13
F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation. ( 29788984 )
2018
14
SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a case with neutralizing anti-IFNI^ autoantibody. ( 28371927 )
2017
15
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
16
IL-23/Th17 targeted therapies in SAPHO syndrome. A case series. ( 28532819 )
2017
17
Clinical features and radiological findings of 67 patients with SAPHO syndrome. ( 28880693 )
2017
18
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
19
Whole-spine Computed Tomography Findings in SAPHO Syndrome. ( 28250144 )
2017
20
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
21
Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome. ( 28500364 )
2017
22
Successful treatment of SAPHO syndrome with apremilast. ( 29034454 )
2017
23
Case report: remarkable remission of SAPHO syndrome in response to Tripterygium wilfordii hook f treatment. ( 29382023 )
2017
24
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity. ( 28545486 )
2017
25
Paradoxical SAPHO syndrome observed during anti-TNFI+ therapy for Crohn's disease. ( 28579754 )
2017
26
Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. ( 29276872 )
2017
27
Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. ( 28725947 )
2017
28
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017
29
A Case of Atypical Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle. ( 29323824 )
2017
30
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
31
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
32
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
33
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016
34
Serum Interleukin-18, Fetuin-A, Soluble Intercellular Adhesion Molecule-1, and Endothelin-1 in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 27527149 )
2016
35
Is the bullhead sign on bone scintigraphy really common in the patient with SAPHO syndrome? A single-center study of a 16-year experience. ( 26619395 )
2016
36
Etanercept in the treatment of refractory SAPHO syndrome. ( 28078192 )
2016
37
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. ( 27058745 )
2016
38
SAPHO syndrome with mandibular manifestation. ( 26729831 )
2016
39
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome. ( 28509162 )
2016
40
SAPHO syndrome in childhood. A case report. ( 27993538 )
2016
41
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. ( 27108452 )
2016
42
SAPHO syndrome presenting as an osteolytic lesion of the neck. ( 26793990 )
2016
43
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. ( 27263075 )
2016
44
Gingival pustules and sterile diffuse sclerosing osteomyelitis as a feature of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. ( 26619759 )
2016
45
Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome. ( 27742022 )
2016
46
Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species. ( 27121779 )
2016
47
Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature. ( 27698770 )
2016
48
Comment on "SAPHO Syndrome: Imaging Findings of Vertebral Involvement". ( 27492076 )
2016
49
Antiphospholipid Syndrome with AntiI^2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome. ( 28128085 )
2016
50
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. ( 27846749 )
2016

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 17)
# 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 9.65 CXCL8 IL18 VEGFA
3 angiogenesis GO:0001525 9.58 CXCL8 IL18 VEGFA
4 activation of protein kinase activity GO:0032147 9.57 CALCA VEGFA
5 cellular response to organic cyclic compound GO:0071407 9.56 IL18 NOD2
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.55 IL18 VEGFA
7 positive regulation of MAP kinase activity GO:0043406 9.54 NOD2 VEGFA
8 positive regulation of epithelial cell proliferation GO:0050679 9.52 NOD2 VEGFA
9 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.49 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 9.37 CALCA NOD2
13 induction of positive chemotaxis GO:0050930 9.32 CXCL8 VEGFA
14 positive regulation of interleukin-17 production GO:0032740 9.26 IL18 NOD2
15 regulation of signaling receptor activity GO:0010469 9.26 CALCA CXCL8 IL18 VEGFA
16 neutrophil activation GO:0042119 9.16 CXCL8 IL18
17 inflammatory response GO:0006954 8.92 CALCA CXCL8 IL18 NOD2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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