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MCID: SPH001
MIFTS: 48

Sapho Syndrome

Categories: Bone diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sapho Syndrome

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MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 74 52 58 15 17
Acquired Hyperostosis Syndrome 52 43
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 71
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 52
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 58
Synovitis Acne Pustulosis Hyperostosis Osteitis 52

Characteristics:

Orphanet epidemiological data:

58
sapho syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


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Summaries for Sapho Syndrome

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NIH Rare Diseases : 52 SAPHO syndrome involves any combination of: S ynovitis (inflammation of the joints), A cne, P ustulosis (thick yellow blisters containing pus) often on the palms and soles, H yperostosis (increase in bone substance) and O steitis (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 synovitis and spondylarthropathy. An important gene associated with Sapho Syndrome is PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Toll-Like receptor Signaling Pathways. 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 arthralgia and osteolysis

Wikipedia : 74 SAPHO syndrome includes a variety of inflammatory bone disorders that may be associated with skin... more...

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Related Diseases for Sapho Syndrome

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

(show top 50) (show all 354)
# Related Disease Score Top Affiliating Genes
1 synovitis 31.1 TNF IL1RN IL18 CXCL8
2 spondylarthropathy 30.8 TNF NOD2
3 spondyloarthropathy 30.7 TNF CDKAL1 CALCA
4 discitis 30.3 MRAP CALCA
5 osteomyelitis 30.1 TNF NOD2 LPIN2 IL1RN CXCL8 CALCA
6 colitis 30.0 TNF NOD2 IL18 CXCL8
7 ulcerative colitis 29.8 TNF NOD2 IL1RN CXCL8
8 spondylitis 29.8 TNFRSF1B TNF NOD2 IL1RN
9 dermatitis 29.8 TNF NOD2 IL18 CXCL8
10 septic arthritis 29.7 TNF MRAP CXCL8 CALCA
11 bone inflammation disease 29.6 TNFRSF1B TNF MRAP IL1RN IL18 CXCL8
12 ankylosis 29.6 TNFRSF1B TNF MRAP
13 enthesopathy 29.6 TNFRSF1B TNF MRAP
14 psoriatic arthritis 29.5 TNFRSF1B TNF NOD2 IL1RN
15 periostitis 29.5 PSTPIP1 MRAP LPIN2 IL1RN
16 periodontitis 29.5 TNF IL1RN IL18 CXCL8
17 meningitis 29.4 TNF IL18 CXCL8 CALCA
18 psoriasis 29.4 TNFRSF1B TNF NOD2 IL18 CXCL8
19 granulomatous dermatitis 29.3 TNFRSF1B TNF NOD2
20 crohn's disease 29.3 TNFRSF1B TNF NOD2 IL18 CXCL8
21 skin disease 29.2 TNFRSF1B TNF SIGLEC5 IL18 CXCL8
22 aseptic meningitis 29.2 TNF IL1RN CXCL8 CALCA
23 pneumonia 29.2 TNFRSF1B TNF IL1RN IL18 CXCL8
24 chronic recurrent multifocal osteomyelitis 29.2 TNF PSTPIP2 PSTPIP1 MRAP LPIN2 IL1RN
25 retinal vasculitis 29.1 TNFRSF1B TNF MRAP
26 spondyloarthropathy 1 29.1 TNFRSF1B TNF NOD2 MRAP IL1RN
27 exanthem 29.1 TNFRSF1B TNF IL1RN CXCL8
28 iritis 29.0 TNFRSF1B TNF NOD2 MRAP
29 uveitis 29.0 TNFRSF1B TNF NOD2 CXCL8
30 spinal disease 28.9 TNFRSF1B TNF MRAP
31 autoimmune disease 28.8 TNFRSF1B TNF IL1RN IL18 CXCL8
32 rheumatoid arthritis 28.6 TNFRSF1B TNF IL1RN IL18 CXCL8
33 scleritis 28.5 TNFRSF1B TNF MRAP IL1RN
34 peripheral nervous system disease 28.4 TNFRSF1B TNF MRAP CXCL8 CALCA
35 pyoderma 27.8 TNFRSF1B TNF SIGLEC5 PSTPIP1 NOD2 IL1RN
36 pyoderma gangrenosum 27.8 TNFRSF1B TNF SIGLEC5 PSTPIP1 NOD2 IL1RN
37 arthritis 27.8 TNFRSF1B TNF PSTPIP1 NOD2 IL1RN IL18
38 inflammatory bowel disease 27.7 TNFRSF1B TNF PSTPIP1 NOD2 IL1RN IL18
39 pustulosis of palm and sole 27.3 TNFRSF1B TNF SIGLEC5 PSTPIP2 PSTPIP1 MRAP
40 pustulosis palmaris et plantaris 11.6
41 hyperostosis 11.1
42 neurofibromatosis, type ii 11.1
43 plica syndrome 11.0
44 inflammatory spondylopathy 10.5
45 hidradenitis 10.5
46 osteonecrosis 10.4
47 bronchiolitis obliterans 10.4
48 bronchiolitis 10.4
49 hidradenitis suppurativa 10.4
50 noma 10.4 IL18 CXCL8

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



Diseases related to Sapho Syndrome
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Symptoms & Phenotypes for Sapho Syndrome

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Human phenotypes related to Sapho Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
3 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
4 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 craniofacial osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005464
7 neoplasm of the skeletal system 58 31 hallmark (90%) Very frequent (99-80%) HP:0010622
8 enthesitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100686
9 synovitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100769
10 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
11 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
12 psoriasiform dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0003765
13 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
14 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
15 abnormality of the sacroiliac joint 58 31 frequent (33%) Frequent (79-30%) HP:0100781
16 palmoplantar pustulosis 58 31 frequent (33%) Frequent (79-30%) HP:0100847
17 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
18 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
19 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
20 inflammation of the large intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002037
21 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
22 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
23 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
24 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
25 steatorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002570
26 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
27 malabsorption 58 Occasional (29-5%)
28 abnormality of the thorax 58 Very frequent (99-80%)
29 abnormality of the vertebral column 58 Frequent (79-30%)
30 pustule 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Sapho Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.43 CDKAL1 IL18 LPIN2 PSTPIP2 TNF TNFRSF1B
2 liver/biliary system MP:0005370 9.1 CDKAL1 LPIN2 MRAP PSTPIP2 TNF TNFRSF1B
Sources

Drugs & Therapeutics for Sapho Syndrome

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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 1 40391-99-9 4674
2 Diphosphonates Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
2 Unrandomized, Open Label Single-center Study to Assess the Long Term Efficacy of Intravenous Bisphosphonates for Bone Marrow Edema in Patients With SAPHO Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
3 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219

Search NIH Clinical Center for Sapho Syndrome

Cochrane evidence based reviews: acquired hyperostosis syndrome

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Genetic Tests for Sapho Syndrome

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Anatomical Context for Sapho Syndrome

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MalaCards organs/tissues related to Sapho Syndrome:

40
Bone, Skin, Neutrophil, Bone Marrow, Brain, Spinal Cord, Heart
Sources

Publications for Sapho Syndrome

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Articles related to Sapho Syndrome:

(show top 50) (show all 574)
# Title Authors PMID Year
1
Demographic, clinical, and scintigraphic comparison of patients affected by palmoplantar pustulosis and severe acne: a retrospective study. 61
31953569 2020
2
A single cohort, open-label study of the efficacy of pamidronate for palmoplantar pustulosis in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. 61
32573425 2020
3
The comparison analysis of clinical and radiological features in SAPHO syndrome. 61
32504191 2020
4
The Bull's Head Sign of SAPHO Syndrome. 61
32576534 2020
5
Off-label use of tofacitinib: a potential treatment option for SAPHO syndrome. 61
32527865 2020
6
Response to: 'Off-label use of tofacitinib: a potential treatment option for SAPHO syndrome' by Xie et al. 61
32527867 2020
7
Successful treatment of Sapho syndrome and hidradenitis suppurativa: A therapeutic challenge. 61
32319137 2020
8
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups. 61
32397996 2020
9
Orofacial manifestations of SAPHO syndrome: a systematic review of case reports. 61
32388746 2020
10
SAPHO syndrome of the temporomandibular joint associated with trismus: a case report and review of the literature. 61
31414280 2020
11
Imaging features in patients with SAPHO/CRMO: a pictorial review. 61
32356235 2020
12
Pediatric Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) Syndrome: Diagnostic Challenges and Treatment Approach. 61
32399329 2020
13
A retrospective study of bone scintigraphy in the follow-up of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: is it useful to repeat bone scintigraphy for disease assessment? 61
31858336 2020
14
Utility of MDP Bone Scan in Following Up Patients with Sapho Syndrome. 61
32351283 2020
15
Pleural effusion: An uncommon manifestation of SAPHO syndrome? 61
32144849 2020
16
Rapid destruction of vertebral bodies in SAPHO syndrome. 61
32360830 2020
17
Off-Label studies on anakinra in dermatology: a review. 61
32279586 2020
18
SAPHO Syndrome from Hidradenitis Suppurativa. 61
32076984 2020
19
Exosomal proteome from the serum, bone marrow, and palm and toe pustular skin tissues of a single patient with SAPHO syndrome. 61
32001333 2020
20
High incidence of malignancy in SAPHO syndrome. 61
32141430 2020
21
SAPHO Syndrome Involving the Mandible Treated With 99Tc-MDP. 61
31977710 2020
22
The SAPHO syndrome and the bullhead sign. 61
31127933 2020
23
SAPHO syndrome and subclavian thrombosis: Simple fortuitous association? 61
31796244 2020
24
Peripheral pulmonic stenosis in SAPHO syndrome. 61
31711136 2020
25
SAPHO Syndrome. 61
31445670 2020
26
A Patient with Complex Gout with an Autoinflammatory Syndrome and a Sternoclavicular Joint Arthritis as Presenting Symptoms. 61
32082683 2020
27
Serum IgG4 elevation in SAPHO syndrome: does it unmask a disease activity marker? 61
31025928 2020
28
A case of SAPHO syndrome with Staphylococcus saprophyticus and Cutibacterium acnes osteitis. 61
32055764 2020
29
SAPHO: has the time come for tailored therapy? 61
31312988 2020
30
SAPHO syndrome: A radiological case report. 61
32476756 2020
31
Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: review and update. 61
32523634 2020
32
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome with Purely Osteolytic, Not Osteosclerotic, Lesions Mimicking a Malignant Tumor. 61
32280553 2020
33
Association analysis of interleukin-23 receptor SNPs and SAPHO syndrome in Chinese people. 61
31701644 2019
34
SAPHO syndrome. 61
31796447 2019
35
Copy Number Variation of Multiple Genes in SAPHO Syndrome. 61
31615912 2019
36
Successful treatment of co-existent SAPHO syndrome and hidradenitis suppurativa with adalimumab and methotrexate. 61
31535768 2019
37
Bone Scan and SPECT/CT Scan in SAPHO Syndrome. 61
31579189 2019
38
Astonishing improvement of destructive mandibular osteomyelitis by NSAIDs: A rare lesion site in a patient with SAPHO syndrome. 61
31534756 2019
39
Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq. 61
31395074 2019
40
Images of the month 3: The 'bull's head' sign of SAPHO syndrome. 61
31308121 2019
41
Efficacy of bisphosphonates in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a prospective open study. 61
30767869 2019
42
Long-term remarkable remission of SAPHO syndrome in response to short-term systemic corticosteroids treatment in an immunoglobulin E elevated patient: A case report. 61
31277098 2019
43
Chronic non-bacterial osteomyelitis: a comparative study between children and adults. 61
31337412 2019
44
SAPHO Syndrome in an Adult Male with Ulcerative Colitis. 61
31253222 2019
45
Three patterns of osteoarticular involvement in SAPHO syndrome: a cluster analysis based on whole body bone scintigraphy of 157 patients. 61
30624750 2019
46
Spinal and sacroiliac involvement in SAPHO syndrome: A single center study of a cohort of 354 patients. 61
30935678 2019
47
Serum levels of proinflammatory, anti-inflammatory cytokines, and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. 61
29694253 2019
48
Skin inflammation associated with arthritis, synovitis and enthesitis. Part 1: psoriatic arthritis, SAPHO syndrome, Still's disease, Behçet's disease. 61
30958944 2019
49
Imaging Follow-up of SAPHO Syndrome Treated With Zoledronic Acid. 61
30870255 2019
50
Monoclonal Gammopathy of Undetermined Significance in a Patient With Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome: Coincidence or Association? 61
30870251 2019
Sources

Variations for Sapho Syndrome

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Expression for Sapho Syndrome

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Search GEO for disease gene expression data for Sapho Syndrome.
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Pathways for Sapho Syndrome

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Cytokine Signaling in Immune system 65
Show member pathways
 13.06 TNFRSF1B TNF NOD2 IL1RN IL18 CXCL8
2
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.29 TNF NOD2 IL1RN IL18 CXCL8
3
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.04 TNFRSF1B TNF IL18 CXCL8
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.94 TNF IL1RN CXCL8
5
Yersinia infection 36
11.77 TNF IL18 CXCL8
6
TNF signaling pathway 36
11.72 TNFRSF1B TNF NOD2
7
NOD-like receptor signaling pathway 36
11.61 TNF PSTPIP1 NOD2 IL18 CXCL8
8
Rheumatoid arthritis 36
11.6 TNF IL18 CXCL8
9
Interleukin-4 and 13 signaling 65
11.51 TNFRSF1B TNF IL18 CXCL8
10
Lung fibrosis 1
11.41 TNF CXCL8 CALCA
11
Legionellosis 36
11.3 TNF IL18 CXCL8
12
Malaria 36
11.2 TNF IL18 CXCL8
13
EBV LMP1 signaling 1
10.95 TNF CXCL8
14
Canonical NF-kappaB pathway 1
10.91 TNF NOD2
15
Cellular roles of Anthrax toxin 1
10.88 TNF IL18
16
Overview of nanoparticle effects 1
10.8 TNF CXCL8
17
Interleukin-10 signaling 65
10.71 TNFRSF1B TNF IL1RN IL18 CXCL8
Sources

GO Terms for Sapho Syndrome

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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 NF-kappaB transcription factor activity GO:0051092 9.74 TNF NOD2 IL18
2 defense response GO:0006952 9.72 TNF NOD2 CXCL8
3 immune response GO:0006955 9.72 TNFRSF1B TNF IL1RN IL18 CXCL8
4 cellular response to tumor necrosis factor GO:0071356 9.7 TNFRSF1B CXCL8 CALCA
5 cellular response to organic cyclic compound GO:0071407 9.58 TNF NOD2 IL18
6 negative regulation of myoblast differentiation GO:0045662 9.56 TNF IL18
7 cellular response to lipopolysaccharide GO:0071222 9.56 TNFRSF1B TNF NOD2 CXCL8
8 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.54 TNF NOD2
9 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.54 TNF NOD2 IL18
10 embryonic digestive tract development GO:0048566 9.51 TNF CXCL8
11 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.49 TNFRSF1B TNF
12 positive regulation of interleukin-17 production GO:0032740 9.48 NOD2 IL18
13 positive regulation of neuroinflammatory response GO:0150078 9.46 TNF IL18
14 neutrophil activation GO:0042119 9.43 IL18 CXCL8
15 cytokine-mediated signaling pathway GO:0019221 9.35 TNFRSF1B TNF IL1RN IL18 CXCL8
16 positive regulation of interleukin-8 production GO:0032757 9.33 TNF NOD2 CALCA
17 inflammatory response GO:0006954 9.17 TNFRSF1B TNF PSTPIP1 IL1RN IL18 CXCL8

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.92 TNF IL1RN IL18 CXCL8
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Sources for Sapho Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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