MCID: SPH001
MIFTS: 53

Sapho Syndrome

Categories: Bone diseases, Rare 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 causeĀ of SAPHO syndrome isĀ unknown and treatment is focused on managing symptoms.

MalaCards based summary : Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to synovitis and osteomyelitis. 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 arthritis and cranial nerve paralysis

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 82)
# Related Disease Score Top Affiliating Genes
1 synovitis 30.8 CXCL8 IL18
2 osteomyelitis 30.7 CXCL8 LPIN2
3 pyoderma 30.2 CXCL8 NOD2
4 pyoderma gangrenosum 30.2 CXCL8 NOD2
5 bone inflammation disease 30.1 CXCL8 PTPN22
6 arthritis 29.8 CXCL8 IL18 NOD2 PTPN22
7 inflammatory bowel disease 29.4 CXCL8 IL18 NOD2 PTPN22
8 rheumatoid arthritis 29.2 CXCL8 IL18 PTPN22
9 psoriasis 29.2 CXCL8 IL18 PTPN22
10 chronic recurrent multifocal osteomyelitis 11.4
11 pustulosis palmaris et plantaris 11.1
12 hyperostosis 10.6
13 bronchiolitis obliterans 10.4
14 bronchiolitis 10.4
15 pneumonia 10.4
16 spondylitis 10.3
17 thrombosis 10.2
18 psoriatic arthritis 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 colitis 10.0
26 spondyloarthropathy 10.0
27 inflammatory bowel disease 9 10.0 IL18 NOD2
28 mastitis 10.0 CXCL8 NOD2
29 inflammatory bowel disease 3 10.0 IL18 NOD2
30 necrotizing fasciitis 10.0 CXCL8 IL18
31 acute graft versus host disease 10.0 IL18 NOD2
32 fasciitis 10.0 CXCL8 IL18
33 noma 10.0 CXCL8 IL18
34 myxoid liposarcoma 10.0 CXCL8 MDM2
35 pleural tuberculosis 10.0 CXCL8 IL18
36 acute cystitis 10.0 CXCL8 IL18
37 brucellosis 10.0 CXCL8 IL18
38 neurofibromatosis, type ii 10.0
39 thrombophilia due to thrombin defect 10.0
40 ulcerative colitis 10.0
41 bone disease 10.0
42 ankylosis 10.0
43 amyloidosis 10.0
44 extrinsic allergic alveolitis 10.0 CXCL8 IL18
45 intestinal disease 9.9 CXCL8 NOD2
46 proteasome-associated autoinflammatory syndrome 1 9.9 CXCL8 IL18
47 lymphadenitis 9.8 CXCL8 IL18 NOD2
48 bacterial infectious disease 9.8 CXCL8 IL18 NOD2
49 behcet syndrome 9.8 CXCL8 IL18 NOD2
50 acute pancreatitis 9.8 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:

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

GenomeRNAi Phenotypes related to Sapho Syndrome according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 IL18
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.74 MDM2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.74 IL18
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.74 MDM2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.74 IL18
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.74 MDM2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.74 MDM2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 IL18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.74 NOD2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.74 MDM2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.74 NOD2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.74 IL18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.74 NOD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.74 NOD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.74 NOD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.74 NOD2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.74 MDM2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.74 NOD2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.74 IL18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 IL18 MDM2 NOD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.74 IL18
22 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.74 IL18
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.74 MDM2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 IL18

MGI Mouse Phenotypes related to Sapho Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 CDKAL1 IL18 LPIN2 MDM2 NOD2 PTPN22
2 hematopoietic system MP:0005397 9.73 CDKAL1 IL18 LPIN2 MDM2 NOD2 PTPN22
3 digestive/alimentary MP:0005381 9.67 IL18 MDM2 NOD2 PTPN22
4 homeostasis/metabolism MP:0005376 9.63 CDKAL1 IL18 LPIN2 MDM2 NOD2 PTPN22
5 immune system MP:0005387 9.43 CDKAL1 IL18 LPIN2 MDM2 NOD2 PTPN22
6 liver/biliary system MP:0005370 8.92 CDKAL1 LPIN2 MDM2 PTPN22

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:

41
Bone, Skin, Neutrophil, Bone Marrow, Lung, Brain, Spinal Cord

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 312)
# 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
Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease? ( 30390722 )
2018
12
Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report. ( 30068763 )
2018
13
Diagnostic value of ultrasonography in synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome: A case report. ( 30313072 )
2018
14
SAPHO syndrome in pediatric patients with inflammatory bowel disease treated with infliximab. ( 30274793 )
2018
15
Clinical heterogeneity of SAPHO syndrome: Challenge of diagnosis. ( 29251057 )
2018
16
Unusual Case of Vogt-Koyanagi-Harada Disease Associated with SAPHO Syndrome: A Case Report. ( 29681837 )
2018
17
F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation. ( 29788984 )
2018
18
Reduction of peripheral natural killer cells in patients with SAPHO syndrome. ( 29998837 )
2018
19
Mandibular Osteitis Leading to the Diagnosis of SAPHO Syndrome. ( 30009075 )
2018
20
A promising new treatment for SAPHO syndrome that deserves further studies. ( 30318810 )
2018
21
Failure of tocilizumab in treating two patients with refractory SAPHO syndrome: a case report. ( 30428761 )
2018
22
Bull's Head Sign in a Patient with SAPHO Syndrome ( 30457108 )
2018
23
SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a case with neutralizing anti-IFNI^ autoantibody. ( 28371927 )
2017
24
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
25
IL-23/Th17 targeted therapies in SAPHO syndrome. A case series. ( 28532819 )
2017
26
Clinical features and radiological findings of 67 patients with SAPHO syndrome. ( 28880693 )
2017
27
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
28
Whole-spine Computed Tomography Findings in SAPHO Syndrome. ( 28250144 )
2017
29
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
30
Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome. ( 28500364 )
2017
31
Successful treatment of SAPHO syndrome with apremilast. ( 29034454 )
2017
32
Case report: remarkable remission of SAPHO syndrome in response to Tripterygium wilfordii hook f treatment. ( 29382023 )
2017
33
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity. ( 28545486 )
2017
34
Paradoxical SAPHO syndrome observed during anti-TNFI+ therapy for Crohn's disease. ( 28579754 )
2017
35
Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. ( 29276872 )
2017
36
Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. ( 28725947 )
2017
37
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017
38
A Case of Atypical Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle. ( 29323824 )
2017
39
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
40
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
41
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
42
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016
43
Serum Interleukin-18, Fetuin-A, Soluble Intercellular Adhesion Molecule-1, and Endothelin-1 in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 27527149 )
2016
44
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
45
Etanercept in the treatment of refractory SAPHO syndrome. ( 28078192 )
2016
46
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. ( 27058745 )
2016
47
SAPHO syndrome with mandibular manifestation. ( 26729831 )
2016
48
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome. ( 28509162 )
2016
49
SAPHO syndrome in childhood. A case report. ( 27993538 )
2016
50
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. ( 27108452 )
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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.63 IL18 MDM2 PTPN22
2 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.43 IL18 NOD2
3 regulation of cell adhesion GO:0030155 9.4 CXCL8 IL18
4 lipopolysaccharide-mediated signaling pathway GO:0031663 9.37 IL18 PTPN22
5 positive regulation of interleukin-17 production GO:0032740 9.32 IL18 NOD2
6 neutrophil activation GO:0042119 9.26 CXCL8 IL18
7 cellular response to muramyl dipeptide GO:0071225 9.16 NOD2 PTPN22
8 cellular response to organic cyclic compound GO:0071407 9.13 IL18 MDM2 NOD2
9 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 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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