MCID: SPH001
MIFTS: 49

Sapho Syndrome

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

MalaCards integrated aliases for Sapho Syndrome:

Name: Sapho Syndrome 12 50 56 14
Acquired Hyperostosis Syndrome 50 42
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 12
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 69
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 50
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 56
Synovitis Acne Pustulosis Hyperostosis Osteitis 50

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 rheumatoid arthritis and chronic recurrent multifocal osteomyelitis, and has symptoms including acne, recurrent fractures and arthritis. 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 Bone Density Conservation Agents 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 growth/size/body region

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 85)
id Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 28.1 CXCL8 IL18 PTPN22
2 chronic recurrent multifocal osteomyelitis 11.2
3 pustulosis palmaris et plantaris 10.8
4 hyperostosis 10.4
5 acne 10.4
6 synovitis 10.4
7 multiple sulfatase deficiency 10.3 IL18 NOD2
8 deafness, autosomal recessive 67 10.3 IL18 NOD2
9 osteomyelitis 10.2
10 acute monoblastic leukemia 10.2 IL18 NOD2
11 congenital insensitivity to pain with hyperhidrosis 10.2 CXCL8 NOD2
12 amyotrophic lateral sclerosis type 10 10.2 CXCL8 NOD2
13 lip cancer 10.1 CXCL8 NOD2
14 myopathy 10.1 CXCL8 NOD2
15 arthritis 10.1
16 yellow fever 10.1 CXCL8 IL18
17 pleomorphic lipoma 10.1 CXCL8 LPIN2
18 orthostatic proteinuria 10.1 CXCL8 IL18
19 chronic endophthalmitis 10.1 CXCL8 NOD2
20 distal monosomy 7q36 10.1 CXCL8 TP53
21 spondylitis 10.1
22 steatorrhea 10.1 CXCL8 IL18
23 allergic bronchopulmonary aspergillosis 10.1 CXCL8 IL18
24 esophagus leiomyoma 10.0 CXCL8 IL18
25 esophagus melanoma 10.0 CXCL8 IL18
26 vitamin d-dependent rickets, type i 10.0 CXCL8 TP53
27 conjunctival concretion 10.0 CXCL8 TP53
28 thrombosis 10.0
29 plantar fascial fibromatosis 10.0 CXCL8 TP53
30 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 10.0 CXCL8 TP53
31 inflammatory bowel disease 3 9.9 IL18 NOD2
32 psoriatic arthritis 9.9
33 ragweed sensitivity 9.9 CXCL8 IL18
34 neovascular glaucoma 9.9 CXCL8 TP53
35 crohn's disease 9.8
36 colitis 9.8
37 cervicitis 9.8
38 pyoderma gangrenosum 9.8
39 spondyloarthropathy 9.8
40 pyoderma 9.8
41 synovium cancer 9.8 CXCL8 IL18
42 ulcerative colitis 9.7
43 ankylosis 9.7
44 inflammatory bowel disease 9.7
45 hidradenitis suppurativa 9.7
46 hidradenitis 9.7
47 mucositis 9.7
48 amyloidosis 9.7
49 cryoglobulinemia 9.7 CXCL8 IL18
50 benign eccrine breast spiradenoma 9.7 CXCL8 IL18 NOD2

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:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acne 56 32 frequent (33%) Frequent (79-30%) HP:0001061
2 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
3 arthritis 56 32 frequent (33%) Frequent (79-30%) HP:0001369
4 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
5 osteomyelitis 56 32 frequent (33%) Frequent (79-30%) HP:0002754
6 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
7 venous thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004936
8 edema 56 32 frequent (33%) Frequent (79-30%) HP:0000969
9 recurrent skin infections 56 32 occasional (7.5%) Occasional (29-5%) HP:0001581
10 vasculitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002633
11 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
12 chest pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0100749
13 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
14 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797
15 chronic diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002028
16 steatorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002570
17 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
18 hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100774
19 inflammation of the large intestine 56 32 occasional (7.5%) Occasional (29-5%) HP:0002037
20 abnormality of the sacroiliac joint 56 32 frequent (33%) Frequent (79-30%) HP:0100781
21 craniofacial osteosclerosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005464
22 palmoplantar pustulosis 56 32 frequent (33%) Frequent (79-30%) HP:0100847
23 enthesitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100686
24 neoplasm of the skeletal system 56 32 hallmark (90%) Very frequent (99-80%) HP:0010622
25 synovitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100769
26 malabsorption 56 Occasional (29-5%)
27 psoriasis 56 Frequent (79-30%)
28 psoriasiform dermatitis 32 frequent (33%) HP:0003765
29 abnormality of the thorax 56 Very frequent (99-80%)
30 abnormality of the vertebral column 56 Frequent (79-30%)
31 pustule 56 Very frequent (99-80%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 IL18 NOD2 TP53 CXCL8
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 IL18 NOD2 TP53 CXCL8

MGI Mouse Phenotypes related to Sapho Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 CDKAL1 IL18 LPIN2 NOD2 PTPN22 TP53
2 adipose tissue MP:0005375 9.62 CDKAL1 IL18 LPIN2 TP53
3 hematopoietic system MP:0005397 9.55 IL18 LPIN2 NOD2 PTPN22 TP53
4 immune system MP:0005387 9.35 IL18 LPIN2 NOD2 PTPN22 TP53
5 liver/biliary system MP:0005370 8.92 CDKAL1 LPIN2 PTPN22 TP53

Drugs & Therapeutics for Sapho Syndrome

Drugs for Sapho Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id 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:


id 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:

39
Bone, Skin, Neutrophil, Heart, Brain, Thyroid, Spinal Cord

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 273)
id Title Authors Year
1
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
2
SAPHO syndrome and acute coronary syndrome. ( 28326524 )
2017
3
Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome. ( 28500364 )
2017
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
IL-23/Th17 targeted therapies in SAPHO syndrome. A case series. ( 28532819 )
2017
8
Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity. ( 28545486 )
2017
9
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
10
SAPHO syndrome-like presentation of disseminated nontuberculous mycobacterial infection in a case with neutralizing anti-IFNI^ autoantibody. ( 28371927 )
2017
11
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
12
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
13
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
14
Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment. ( 28725947 )
2017
15
Heart failure complicating with SAPHO syndrome. ( 28232375 )
2017
16
Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome. ( 27742022 )
2016
17
SAPHO syndrome presenting as an osteolytic lesion of the neck. ( 26793990 )
2016
18
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. ( 27263075 )
2016
19
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. ( 27846749 )
2016
20
Comment on "SAPHO Syndrome: Imaging Findings of Vertebral Involvement". ( 27492076 )
2016
21
SAPHO Syndrome: Imaging Findings of Vertebral Involvement. ( 27012293 )
2016
22
Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature. ( 27698770 )
2016
23
SAPHO syndrome in childhood. A case report. ( 27993538 )
2016
24
Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species. ( 27121779 )
2016
25
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. ( 27058745 )
2016
26
Serum Interleukin-18, Fetuin-A, Soluble Intercellular Adhesion Molecule-1, and Endothelin-1 in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 27527149 )
2016
27
Antiphospholipid Syndrome with AntiI^2glicoprotein-1 Antibodies as the Cause of Recurrent Tibial Vein Thrombosis in SAPHO syndrome. ( 28128085 )
2016
28
Gingival pustules and sterile diffuse sclerosing osteomyelitis as a feature of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. ( 26619759 )
2016
29
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. ( 27108452 )
2016
30
A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty. ( 27399138 )
2016
31
Etanercept in the treatment of refractory SAPHO syndrome. ( 28078192 )
2016
32
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome. ( 28509162 )
2016
33
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
34
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016
35
SAPHO syndrome with mandibular manifestation. ( 26729831 )
2016
36
SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton. ( 27730042 )
2016
37
Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy. ( 27936930 )
2016
38
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. ( 27456988 )
2016
39
Diagnostic Challenges of SAPHO Syndrome. ( 26628713 )
2015
40
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. ( 25829226 )
2015
41
The diagnostic usefulness of 18F-fluorodoxyglucose-positron emission tomography/CT in SAPHO syndrome. ( 25733097 )
2015
42
The SAPHO syndrome: a single-center study of 41 adult patients. ( 25512472 )
2015
43
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
44
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. ( 26359576 )
2015
45
Can Isotretinoin Induce Articular Symptoms in SAPHO Syndrome? ( 26360696 )
2015
46
Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report. ( 26331013 )
2015
47
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome presenting with hypertrophic pachymeningitis. ( 25549534 )
2015
48
Increased neutrophil infiltration, IL-1 production and a SAPHO syndrome-like phenotype in PSTPIP2-deficient mice. ( 25602062 )
2015
49
SAPHO syndrome: a review. ( 25585872 )
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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.67 IL18 LPIN2 NOD2 TP53
2 cellular response to organic cyclic compound GO:0071407 9.43 IL18 NOD2
3 positive regulation of gene expression GO:0010628 9.4 PTPN22 TP53
4 regulation of cell adhesion GO:0030155 9.32 CXCL8 IL18
5 lipopolysaccharide-mediated signaling pathway GO:0031663 9.26 IL18 PTPN22
6 positive regulation of interleukin-17 production GO:0032740 9.16 IL18 NOD2
7 cellular response to muramyl dipeptide GO:0071225 8.96 NOD2 PTPN22
8 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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