MCID: SPH001
MIFTS: 47

Sapho Syndrome

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 73 20 58 15 17
Acquired Hyperostosis Syndrome 20 44
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 70
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 20
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 58
Synovitis Acne Pustulosis Hyperostosis Osteitis 20

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:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


Summaries for Sapho Syndrome

GARD : 20 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 bone inflammation disease. An important gene associated with Sapho Syndrome is PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2), and among its related pathways/superpathways are Measles and Shigellosis. The drugs Pamidronate and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are arthralgia and chest pain

Wikipedia : 73 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 257)
# Related Disease Score Top Affiliating Genes
1 synovitis 31.1 VEGFA IL18 CXCL8
2 bone inflammation disease 31.1 VEGFA IL18 CXCL8
3 chronic recurrent multifocal osteomyelitis 31.0 PSTPIP2 LPIN2 FBLIM1
4 osteomyelitis 30.6 NOD2 LPIN2 FBLIM1 CXCL8 CALCA
5 periostitis 30.5 PSTPIP2 LPIN2
6 pyoderma 30.3 SIGLEC5 NOD2 CXCL8
7 pyoderma gangrenosum 30.1 SIGLEC5 PSTPIP2 NOD2 CXCL8
8 iritis 29.9 VEGFA NOD2
9 periodontitis 29.8 SIGLEC5 IL18 CXCL8
10 pustulosis of palm and sole 29.7 SIGLEC5 PSTPIP2 LPIN2 CXCL8
11 exanthem 29.7 VEGFA IL18 CXCL8
12 neutrophilic dermatosis, acute febrile 29.5 SIGLEC5 PSTPIP2 LPIN2 CXCL8
13 skin disease 29.5 VEGFA TP53 SIGLEC5 IL18 CXCL8
14 meningitis 29.3 VEGFA IL18 CXCL8
15 inflammatory bowel disease 29.0 VEGFA TP53 NOD2 IL18 CXCL8
16 peripheral nervous system disease 28.6 VEGFA TP53 MDM2 CXCL8 CALCA
17 pustulosis palmaris et plantaris 11.1
18 hyperostosis 11.1
19 acne 11.1
20 plica syndrome 11.0
21 inflammatory spondylopathy 10.5
22 spondylitis 10.5
23 spondyloarthropathy 10.5
24 hidradenitis 10.5
25 spondyloarthropathy 1 10.4
26 hidradenitis suppurativa 10.4
27 psoriatic arthritis 10.4
28 osteonecrosis 10.3
29 bronchiolitis obliterans 10.3
30 bronchiolitis 10.3
31 pneumonia 10.3
32 spondylarthropathy 10.3
33 ring chromosome 7 10.3 TP53 MDM2
34 ring chromosome 10.3 TP53 MDM2
35 actinic cheilitis 10.3 TP53 MDM2
36 esophagus verrucous carcinoma 10.3 TP53 MDM2
37 undifferentiated embryonal sarcoma of the liver 10.3 TP53 MDM2
38 embryonal sarcoma 10.3 TP53 MDM2
39 pediatric liposarcoma 10.3 TP53 MDM2
40 periosteal osteogenic sarcoma 10.3 TP53 MDM2
41 bone disease 10.3
42 arthritis 10.3
43 maxillary sinus adenocarcinoma 10.3 TP53 MDM2
44 peripheral osteosarcoma 10.3 TP53 MDM2
45 parameningeal embryonal rhabdomyosarcoma 10.2 TP53 MDM2
46 pustular psoriasis 10.2
47 conventional fibrosarcoma 10.2 TP53 MDM2
48 adult astrocytic tumour 10.2 TP53 MDM2
49 lip cancer 10.2 TP53 MDM2
50 malignant spiradenoma 10.2 TP53 MDM2

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
3 hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100774
4 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
5 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
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 abnormal thorax morphology 31 hallmark (90%) HP:0000765
11 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
12 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
13 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
14 abnormality of the sacroiliac joint 58 31 frequent (33%) Frequent (79-30%) HP:0100781
15 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
16 psoriasiform dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0003765
17 palmoplantar pustulosis 58 31 frequent (33%) Frequent (79-30%) HP:0100847
18 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
19 inflammation of the large intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002037
20 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
21 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
22 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
23 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
24 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
25 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
26 steatorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002570
27 recurrent skin infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0001581
28 malabsorption 58 Occasional (29-5%)
29 abnormality of the thorax 58 Very frequent (99-80%)
30 abnormality of the vertebral column 58 Frequent (79-30%)
31 pustule 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Sapho Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 CDKAL1 LPIN2 MDM2 PSTPIP2 TP53 VEGFA

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 1 40391-99-9 4674
2 Diphosphonates Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219
3 Characterizing Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) With 68Ga-FAPI PET/CT Recruiting NCT04596462 Early Phase 1 68Ga-FAPI

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:

40
Bone, Skin, Heart, Lung, Bone Marrow, Spinal Cord, Thyroid

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 616)
# Title Authors PMID Year
1
Fibromyalgia in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: prevalence and screening. 61
32949312 2021
2
Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center. 61
32929648 2021
3
Serum Sp17 Autoantibody Serves as a Potential Specific Biomarker in Patients with SAPHO Syndrome. 61
33392854 2021
4
Clinical and Radiological Remission of Osteoarticular and Cutaneous Lesions in SAPHO Patients Treated With Secukinumab: A Case Series. 61
33649072 2021
5
The effectiveness of treatments for patients with SAPHO syndrome: a follow-up study of 24 cases from a single center and review of literature. 61
32789818 2021
6
Carotid Ulceration in a Young Woman with SAPHO Syndrome. 61
33223280 2021
7
Thoracic outlet syndrome in a patient with SAPHO syndrome - A case report. 61
33667913 2021
8
Pustular Psoriasis and Associated Musculoskeletal Disorders. 61
33722939 2021
9
[SAPHO syndrome : An overview and nosological differentiation of 35 disease cases]. 61
33725179 2021
10
Diagnostic challenge of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in pediatric age: A monocentric case series. 61
33627034 2021
11
Lobular panniculitis associated with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. 61
32840874 2021
12
Hypertrophic Pachymeningitis Related Brain Infarction in Synovitis-Acne-Pustulosis-Hyperostosis Osteomyelitis Syndrome. 61
33307288 2021
13
Intestinal ulcers induced by intravesical bacillus Calmette-Guérin therapy. 61
33492192 2021
14
Bone loss in patients with SAPHO syndrome: a preliminary study. 61
33589437 2021
15
Severe deformity in long-term SAPHO syndrome. 61
32830265 2021
16
SAPHO syndrome successful treated with tildrakizumab. 61
33405331 2021
17
Successful treatment of refractory mandibular lesions in SAPHO syndrome with secukinumab. 61
32712673 2021
18
Comparative analysis and differentiation between SAPHO syndrome and spondyloarthropathies using whole-spine MRI. 61
33451718 2021
19
A case of hip joint septic arthritis due to haematogenous infection, which was misdiagnosed sternoclavicular joint septic arthritis as SAPHO syndrome. 61
33427583 2021
20
Serum interleukin-23 protects, whereas methotrexate treatment stimulates selected components of the metabolic syndrome in patients with SAPHO syndrome. 61
33488864 2021
21
Tripterygium wilfordii Hook F. in the treatment of synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a clinical trial. 61
33389313 2021
22
The comparison analysis of clinical and radiological features in SAPHO syndrome. 61
32504191 2021
23
Disease activity in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the utility of the SPARCC MRI scoring system for assessment of axial spine involvement. 61
33427614 2021
24
Tofacitinib for the Treatment of Nail Lesions and Palmoplantar Pustulosis in Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome. 61
32997094 2021
25
Severe, rigid cervical kyphotic deformity associated with SAPHO syndrome successfully treated with three-stage correction surgery combined with C7 vertebral column resection: a technical case report. 61
32946068 2021
26
Tonsillitis as a possible predisposition to synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. 61
33502120 2021
27
Bone histomorphometric and immunohistological analysis for hyperostosis in a patient with SAPHO syndrome: A case report. 61
32728600 2020
28
The Diagnosis and Treatment of Adult Patients with SAPHO Syndrome: Controversies Revealed in a Multidisciplinary International Survey of Physicians. 61
32974863 2020
29
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
30
Mandibular involvement in SAPHO syndrome: a retrospective study. 61
33153463 2020
31
Orofacial manifestations of SAPHO syndrome: a systematic review of case reports. 61
32388746 2020
32
Biologic Therapy for Hidradenitis Suppurativa Plus Conglobate Acne Associated with SAPHO Syndrome: A Case Report. 61
33074337 2020
33
SAPHO syndrome: the supposed trigger by isotretinoin, the efficacy of adalimumab and the specter of depressive disorder: a case report. 61
33187546 2020
34
Rapid destruction of vertebral bodies in SAPHO syndrome. 61
32360830 2020
35
Chronic Regional Multifocal Osteomyelitis RE: SAPHO syndrome: A Radiological Case Report. 61
33737789 2020
36
Rapid remission of refractory synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome in response to the Janus kinase inhibitor tofacitinib: A case report. 61
33083414 2020
37
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): An Interesting Clinical Syndrome. 61
32905195 2020
38
Successful treatment of synovitis, acne, pustulosis, hyperostosis, and osteitis and paradoxical skin lesions by Tripterygium wilfordii hook f: a case report. 61
32962502 2020
39
Copy Number Variation of Multiple Genes in SAPHO Syndrome. 61
31615912 2020
40
Tonsillectomy as an effective treatment for arthralgia of SAPHO syndrome. 61
32934788 2020
41
Anterior chest wall in SAPHO syndrome: magnetic resonance imaging findings. 61
32928273 2020
42
Imaging Follow-up of SAPHO Syndrome Treated With Zoledronic Acid. 61
30870255 2020
43
Left Subclavian Vein Occlusion in a Patient With SAPHO Syndrome. 61
30586001 2020
44
Zoledronic acid monotherapy improves osteoarticular involvement in SAPHO syndrome. 61
32608307 2020
45
Axial skeletal lesions and disease duration in SAPHO syndrome: A retrospective review of computed tomography findings in 81 patients. 61
32588963 2020
46
Rapid induction of clinical remission in SAPHO syndrome using high-dose Tripterygium glycosides: A case report. 61
32629743 2020
47
High incidence of malignancy in SAPHO syndrome. 61
32141430 2020
48
Imaging features in patients with SAPHO/CRMO: a pictorial review. 61
32356235 2020
49
New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO. 61
32705386 2020
50
Off-label use of tofacitinib: a potential treatment option for SAPHO syndrome. 61
32527865 2020

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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 VEGFA TP53 NOD2 MDM2 LPIN2 IL18
2 negative regulation of gene expression GO:0010629 9.73 VEGFA TP53 MDM2 CXCL8
3 cytokine-mediated signaling pathway GO:0019221 9.71 VEGFA TP53 IL18 CXCL8
4 cellular response to hypoxia GO:0071456 9.7 VEGFA TP53 MDM2
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.63 VEGFA TP53 NOD2
6 positive regulation of protein export from nucleus GO:0046827 9.55 TP53 MDM2
7 positive regulation of interleukin-17 production GO:0032740 9.54 NOD2 IL18
8 induction of positive chemotaxis GO:0050930 9.51 VEGFA CXCL8
9 cardiac septum morphogenesis GO:0060411 9.49 TP53 MDM2
10 neutrophil activation GO:0042119 9.48 IL18 CXCL8
11 cellular response to organic cyclic compound GO:0071407 9.43 NOD2 MDM2 IL18
12 positive regulation of gene expression GO:0010628 9.35 VEGFA TP53 MDM2 IL18 CXCL8
13 cellular response to UV-C GO:0071494 9.32 TP53 MDM2
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.16 VEGFA TP53
15 cellular response to actinomycin D GO:0072717 8.62 TP53 MDM2

Sources for Sapho Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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