MCID: SPH001
MIFTS: 54

Sapho Syndrome

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 72 49 55 14
Acquired Hyperostosis Syndrome 49 41
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 69
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 49
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 55
Synovitis Acne Pustulosis Hyperostosis Osteitis 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 2/4/2014

MalaCards based summary : Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to osteomyelitis and synovitis, and has symptoms including edema, skin rash and acne. 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 Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 72 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 90)
# Related Disease Score Top Affiliating Genes
1 osteomyelitis 30.4 CXCL8 LPIN2
2 synovitis 30.3 CXCL8 IL18
3 bone inflammation disease 30.1 CXCL8 PTPN22
4 pyoderma gangrenosum 29.9 CXCL8 NOD2
5 pyoderma 29.9 CXCL8 NOD2
6 arthritis 28.9 CXCL8 IL18 NOD2 PTPN22
7 rheumatoid arthritis 28.4 CXCL8 IL18 PTPN22
8 psoriasis 28.4 CXCL8 IL18 PTPN22
9 inflammatory bowel disease 28.3 CXCL8 IL18 NOD2 PTPN22
10 chronic recurrent multifocal osteomyelitis 11.3
11 pustulosis palmaris et plantaris 11.0
12 hyperostosis 10.5
13 inflammatory bowel disease 9 10.2 IL18 NOD2
14 inflammatory spondylopathy 10.1
15 spondylitis 10.1
16 inflammatory bowel disease 3 10.1 IL18 NOD2
17 acute graft versus host disease 10.1 IL18 NOD2
18 pouchitis 10.1 CXCL8 NOD2
19 crohn's colitis 10.1 CXCL8 NOD2
20 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
21 thrombosis 10.0
22 noma 10.0 CXCL8 IL18
23 psoriatic arthritis 10.0
24 necrotizing fasciitis 10.0 CXCL8 IL18
25 bacteriuria 10.0 CXCL8 IL18
26 pleural tuberculosis 10.0 CXCL8 IL18
27 primary peritoneal carcinoma 10.0 CXCL8 TP53
28 mastitis 10.0 CXCL8 NOD2
29 pulpitis 10.0 CXCL8 IL18
30 acute cystitis 10.0 CXCL8 IL18
31 fasciitis 10.0 CXCL8 IL18
32 spondyloarthropathy 1 10.0
33 brucellosis 10.0 CXCL8 IL18
34 atrophic gastritis 9.9 CXCL8 TP53
35 myxoid liposarcoma 9.9 CXCL8 TP53
36 gastroesophageal reflux 9.9 CXCL8 TP53
37 esophagitis 9.9 CXCL8 TP53
38 crohn's disease 9.9
39 colitis 9.9
40 spondyloarthropathy 9.9
41 cervicitis 9.9
42 autoinflammation, lipodystrophy, and dermatosis syndrome 9.9 CXCL8 IL18
43 cystitis 9.8 CXCL8 TP53
44 thrombophilia due to thrombin defect 9.8
45 episodic pain syndrome, familial, 1 9.8
46 cohen-gibson syndrome 9.8
47 ulcerative colitis 9.8
48 mucositis 9.8
49 ankylosis 9.8
50 hidradenitis suppurativa 9.8

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:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
2 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
3 acne 55 31 frequent (33%) Frequent (79-30%) HP:0001061
4 arthritis 55 31 frequent (33%) Frequent (79-30%) HP:0001369
5 recurrent skin infections 55 31 occasional (7.5%) Occasional (29-5%) HP:0001581
6 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
7 chronic diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002028
8 inflammation of the large intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002037
9 steatorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002570
10 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
11 osteomyelitis 55 31 frequent (33%) Frequent (79-30%) HP:0002754
12 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
13 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797
14 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
15 venous thrombosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004936
16 craniofacial osteosclerosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005464
17 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
18 neoplasm of the skeletal system 55 31 hallmark (90%) Very frequent (99-80%) HP:0010622
19 enthesitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100686
20 synovitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100769
21 abnormality of the sacroiliac joint 55 31 frequent (33%) Frequent (79-30%) HP:0100781
22 palmoplantar pustulosis 55 31 frequent (33%) Frequent (79-30%) HP:0100847
23 vasculitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002633
24 chest pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0100749
25 hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100774
26 abnormality of the thorax 55 Very frequent (99-80%)
27 abnormality of the vertebral column 55 Frequent (79-30%)
28 malabsorption 55 Occasional (29-5%)
29 psoriasis 55 Frequent (79-30%)
30 pustule 55 Very frequent (99-80%)
31 psoriasiform dermatitis 31 frequent (33%) HP:0003765

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 TP53 CXCL8 IL18 NOD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 TP53 CXCL8 IL18 NOD2

MGI Mouse Phenotypes related to Sapho Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 LPIN2 NOD2 PTPN22 TP53 CDKAL1 IL18
2 hematopoietic system MP:0005397 9.63 NOD2 PTPN22 TP53 CDKAL1 IL18 LPIN2
3 adipose tissue MP:0005375 9.62 TP53 CDKAL1 IL18 LPIN2
4 immune system MP:0005387 9.43 NOD2 PTPN22 TP53 CDKAL1 IL18 LPIN2
5 liver/biliary system MP:0005370 8.92 LPIN2 PTPN22 TP53 CDKAL1

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:

38
Bone, Skin, Neutrophil, Thyroid, Heart, Brain, Spinal Cord

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 280)
# Title Authors Year
1
Mandibular Involvement in Recurrent Multifocal Osteomyelitis Associated with SAPHO Syndrome. ( 29387665 )
2018
2
Small-cell Lung Cancer Associated with SAPHO Syndrome. ( 29033438 )
2018
3
Clinical heterogeneity of SAPHO syndrome: Challenge of diagnosis. ( 29251057 )
2018
4
Paradoxical SAPHO syndrome observed during anti-TNFI+ therapy for Crohn's disease. ( 28579754 )
2017
5
Whole-spine Computed Tomography Findings in SAPHO Syndrome. ( 28250144 )
2017
6
Clinical features and radiological findings of 67 patients with SAPHO syndrome. ( 28880693 )
2017
7
Successful treatment of SAPHO syndrome with apremilast. ( 29034454 )
2017
8
IL-23/Th17 targeted therapies in SAPHO syndrome. A case series. ( 28532819 )
2017
9
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
10
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
11
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
12
Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. ( 29276872 )
2017
13
Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome. ( 28500364 )
2017
14
SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a case with neutralizing anti-IFNI^ autoantibody. ( 28371927 )
2017
15
A Case of Atypical Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) Syndrome Presenting With Osteomyelitis of the Clavicle. ( 29323824 )
2017
16
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
17
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
18
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017
19
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
20
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity. ( 28545486 )
2017
21
Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. ( 28725947 )
2017
22
Case report: remarkable remission of SAPHO syndrome in response to Tripterygium wilfordii hook f treatment. ( 29382023 )
2017
23
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. ( 27263075 )
2016
24
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome. ( 28509162 )
2016
25
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
26
SAPHO syndrome in childhood. A case report. ( 27993538 )
2016
27
Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature. ( 27698770 )
2016
28
Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species. ( 27121779 )
2016
29
SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton. ( 27730042 )
2016
30
A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty. ( 27399138 )
2016
31
Antiphospholipid Syndrome with AntiI^2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome. ( 28128085 )
2016
32
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. ( 27058745 )
2016
33
Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome. ( 27742022 )
2016
34
SAPHO syndrome with mandibular manifestation. ( 26729831 )
2016
35
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. ( 27456988 )
2016
36
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. ( 27846749 )
2016
37
Serum Interleukin-18, Fetuin-A, Soluble Intercellular Adhesion Molecule-1, and Endothelin-1 in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 27527149 )
2016
38
Comment on "SAPHO Syndrome: Imaging Findings of Vertebral Involvement". ( 27492076 )
2016
39
Gingival pustules and sterile diffuse sclerosing osteomyelitis as a feature of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. ( 26619759 )
2016
40
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016
41
SAPHO Syndrome: Imaging Findings of Vertebral Involvement. ( 27012293 )
2016
42
Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy. ( 27936930 )
2016
43
Etanercept in the treatment of refractory SAPHO syndrome. ( 28078192 )
2016
44
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. ( 27108452 )
2016
45
SAPHO syndrome presenting as an osteolytic lesion of the neck. ( 26793990 )
2016
46
SAPHO syndrome as a differential diagnosis of metastasis. ( 26617052 )
2015
47
The salivary proteome profile in patients affected by SAPHO syndrome characterized by a top-down RP-HPLC-ESI-MS platform. ( 25671558 )
2015
48
The diagnostic usefulness of 18F-fluorodoxyglucose-positron emission tomography/CT in SAPHO syndrome. ( 25733097 )
2015
49
Serum IL-6 and IL-23 Levels and Their Correlation with Angiogenic Cytokines and Disease Activity in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 26339141 )
2015
50
A Case of SAPHO Syndrome with Endodontic Implications and Treatment with Biologic Drugs. ( 26008113 )
2015

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 transcription by RNA polymerase II GO:0045944 9.71 IL18 LPIN2 NOD2 TP53
2 positive regulation of gene expression GO:0010628 9.61 IL18 PTPN22 TP53
3 cellular response to organic cyclic compound GO:0071407 9.46 IL18 NOD2
4 regulation of cell adhesion GO:0030155 9.37 CXCL8 IL18
5 lipopolysaccharide-mediated signaling pathway GO:0031663 9.32 IL18 PTPN22
6 positive regulation of interleukin-17 production GO:0032740 9.26 IL18 NOD2
7 neutrophil activation GO:0042119 9.16 CXCL8 IL18
8 cellular response to muramyl dipeptide GO:0071225 8.96 NOD2 PTPN22
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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