MCID: SPH001
MIFTS: 46

Sapho Syndrome malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

Aliases & Descriptions 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:



External Ids:

Disease Ontology 12 DOID:13677
MeSH 42 D020083
SNOMED-CT 64 203140009 60684003
Orphanet 56 ORPHA793
ICD10 via Orphanet 34 M86.3
UMLS 69 C0263859

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 psoriatic arthritis and chronic recurrent multifocal osteomyelitis, and has symptoms including arthralgia, edema and chest pain. An important gene associated with Sapho Syndrome is LPIN2 (Lipin 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. The drugs Pamidronate and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and neutrophil, and related phenotype is Synthetic lethal with MLN4924 (a NAE inhibitor).

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 94)
id Related Disease Score Top Affiliating Genes
1 psoriatic arthritis 30.2 IL18 NOD2
2 chronic recurrent multifocal osteomyelitis 11.2
3 pustulosis palmaris et plantaris 10.8
4 acne 10.4
5 hyperostosis 10.4
6 synovitis 10.3
7 osteomyelitis 10.2
8 multiple sulfatase deficiency 10.2 IL18 NOD2
9 coronary arterial fistulas 10.2 CXCL8 NOD2
10 amyotrophic lateral sclerosis type 14 10.1 CXCL8 NOD2
11 parkinson disease 11 10.1 CXCL8 NOD2
12 acute myeloid leukemia with recurrent genetic anomaly 10.1 IL18 NOD2
13 bacterial conjunctivitis 10.1 CXCL8 IL18
14 malignant histiocytosis 10.1 CXCL8 NOD2
15 stomatitis 10.1 CXCL8 IL18
16 glucose intolerance 10.1 CXCL8 IL18
17 histiocytoma 10.1 CXCL8 NOD2
18 acquired thrombocytopenia 10.1 CXCL8 IL18
19 ulcerative proctitis 10.1 CXCL8 VEGFA
20 arthritis 10.1
21 orthostatic proteinuria 10.1 CXCL8 IL18
22 allergic bronchopulmonary aspergillosis 10.1 CXCL8 IL18
23 spondylitis 10.1
24 coronary stenosis 10.1 TP53 VEGFA
25 pyloric antrum cancer 10.1 TP53 VEGFA
26 spastic paraplegia 1 10.1 TP53 VEGFA
27 mucopolysaccharidosis 10.1 TP53 VEGFA
28 fallopian tube carcinosarcoma 10.0 TP53 VEGFA
29 placental site trophoblastic tumor 10.0 TP53 VEGFA
30 gallbladder papillomatosis 10.0 TP53 VEGFA
31 interstitial lung disease 10.0 TP53 VEGFA
32 kidney benign neoplasm 10.0 TP53 VEGFA
33 benign eccrine breast spiradenoma 10.0 CXCL8 IL18 NOD2
34 metagonimiasis 10.0 TP53 VEGFA
35 glycogen storage disease ix 10.0 CXCL8 IL18 NOD2
36 goodpasture syndrome 10.0 CXCL8 IL18 NOD2
37 cleft palate cardiac defect ectrodactyly 10.0 TP53 VEGFA
38 senile reticular retinal degeneration 10.0 CALCA CXCL8
39 cardioauditory syndrome of sanchez cascos 10.0 CALCA VEGFA
40 stickler syndrome, type i 10.0 CXCL8 TP53
41 perineural angioma 10.0 CALCA TP53
42 lung occult small cell carcinoma 10.0 CALCA TP53
43 thrombosis 9.9
44 cowpox 9.9 CXCL8 TP53
45 uterine ligament clear cell adenocarcinoma 9.9 CXCL8 NOD2 TP53
46 human granulocytic anaplasmosis 9.9 TP53 VEGFA
47 epidermolysis bullosa simplex, sutosomal recessive 2 9.9 CXCL8 VEGFA
48 nasal cavity disease 9.9 TP53 VEGFA
49 immunodeficiency due to a late component of complement deficiency 9.9 CXCL8 TP53 VEGFA
50 in situ pulmonary adenocarcinoma 9.9 CXCL8 TP53 VEGFA

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 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 edema 56 32 Frequent (79-30%) HP:0000969
3 chest pain 56 32 Very frequent (99-80%) HP:0100749
4 abdominal pain 56 32 Occasional (29-5%) HP:0002027
5 bone pain 56 32 Very frequent (99-80%) HP:0002653
6 arthritis 56 32 Frequent (79-30%) HP:0001369
7 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
8 acne 56 32 Frequent (79-30%) HP:0001061
9 inflammation of the large intestine 56 32 Occasional (29-5%) HP:0002037
10 venous thrombosis 56 32 Occasional (29-5%) HP:0004936
11 osteomyelitis 56 32 Frequent (79-30%) HP:0002754
12 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
13 skin rash 56 32 Occasional (29-5%) HP:0000988
14 chronic diarrhea 56 32 Occasional (29-5%) HP:0002028
15 vasculitis 56 32 Occasional (29-5%) HP:0002633
16 hyperostosis 56 32 Very frequent (99-80%) HP:0100774
17 osteolysis 56 32 Very frequent (99-80%) HP:0002797
18 recurrent skin infections 56 32 Occasional (29-5%) HP:0001581
19 abnormality of the sacroiliac joint 56 32 Frequent (79-30%) HP:0100781
20 steatorrhea 56 32 Occasional (29-5%) HP:0002570
21 craniofacial osteosclerosis 56 32 Very frequent (99-80%) HP:0005464
22 psoriasis 56 32 Frequent (79-30%) HP:0003765
23 palmoplantar pustulosis 56 32 Frequent (79-30%) HP:0100847
24 enthesitis 56 32 Very frequent (99-80%) HP:0100686
25 neoplasm of the skeletal system 56 32 Very frequent (99-80%) HP:0010622
26 synovitis 56 32 Very frequent (99-80%) HP:0100769
27 malabsorption 56 Occasional (29-5%)
28 abnormality of the thorax 56 Very frequent (99-80%)
29 abnormality of the vertebral column 56 Frequent (79-30%)
30 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 9.23 CXCL8 IL18 NOD2 TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 CXCL8 IL18 NOD2 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 Diphosphonates Phase 1
3 Bone Density Conservation Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate Recruiting NCT02594878 Phase 2
2 Efficacy of Bisphosphonates in Patients With Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome Completed NCT02544659 Phase 1
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, Thyroid, Spinal Cord

Publications for Sapho Syndrome

Articles related to Sapho Syndrome:

(show top 50) (show all 259)
id Title Authors Year
1
Scleritis Associated with SAPHO Syndrome: A Case Report. ( 28060551 )
2017
2
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. ( 28072711 )
2017
3
Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome. ( 27742022 )
2016
4
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. ( 27181039 )
2016
5
A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty. ( 27399138 )
2016
6
Comment on "SAPHO Syndrome: Imaging Findings of Vertebral Involvement". ( 27492076 )
2016
7
Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy. ( 27936930 )
2016
8
Etanercept in the treatment of refractory SAPHO syndrome. ( 28078192 )
2016
9
SAPHO syndrome presenting as an osteolytic lesion of the neck. ( 26793990 )
2016
10
Serum Interleukin-18, Fetuin-A, Soluble Intercellular Adhesion Molecule-1, and Endothelin-1 in Ankylosing Spondylitis, Psoriatic Arthritis, and SAPHO Syndrome. ( 27527149 )
2016
11
SAPHO syndrome in childhood. A case report. ( 27993538 )
2016
12
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. ( 27846749 )
2016
13
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. ( 27108452 )
2016
14
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. ( 27456988 )
2016
15
Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature. ( 27698770 )
2016
16
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. ( 27058745 )
2016
17
SAPHO syndrome with mandibular manifestation. ( 26729831 )
2016
18
SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton. ( 27730042 )
2016
19
SAPHO Syndrome: Imaging Findings of Vertebral Involvement. ( 27012293 )
2016
20
Gingival pustules and sterile diffuse sclerosing osteomyelitis as a feature of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. ( 26619759 )
2016
21
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. ( 27263075 )
2016
22
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
23
Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species. ( 27121779 )
2016
24
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome. ( 28509162 )
2016
25
Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report. ( 26331013 )
2015
26
The diagnostic usefulness of 18F-fluorodoxyglucose-positron emission tomography/CT in SAPHO syndrome. ( 25733097 )
2015
27
Diagnostic Challenges of SAPHO Syndrome. ( 26628713 )
2015
28
Thrombotic manifestations in SAPHO syndrome. Review of the literature. ( 25441492 )
2015
29
Increased neutrophil infiltration, IL-1 production and a SAPHO syndrome-like phenotype in PSTPIP2-deficient mice. ( 25602062 )
2015
30
The salivary proteome profile in patients affected by SAPHO syndrome characterized by a top-down RP-HPLC-ESI-MS platform. ( 25671558 )
2015
31
Can Isotretinoin Induce Articular Symptoms in SAPHO Syndrome? ( 26360696 )
2015
32
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. ( 25829226 )
2015
33
The SAPHO syndrome: a single-center study of 41 adult patients. ( 25512472 )
2015
34
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
35
SAPHO syndrome as a differential diagnosis of metastasis. ( 26617052 )
2015
36
A Case of SAPHO Syndrome with Endodontic Implications and Treatment with Biologic Drugs. ( 26008113 )
2015
37
SAPHO syndrome: a review. ( 25585872 )
2015
38
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. ( 26359576 )
2015
39
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome presenting with hypertrophic pachymeningitis. ( 25549534 )
2015
40
Clinical features of the SAPHO syndrome and their role in choosing the therapeutic approach: report of four patients and review of the literature. ( 25230058 )
2014
41
Thrombosis of the left subclavian vein complicating SAPHO syndrome: A case report. ( 24703398 )
2014
42
Severe inflammation associated with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline. ( 24533553 )
2014
43
Recurrent unilateral headache associated with SAPHO syndrome. ( 25030573 )
2014
44
SAPHO syndrome treatment with intravenous pamidronate. Retrospective study of 22 patients. ( 24561020 )
2014
45
TH17 cells are increased in the peripheral blood of patients with SAPHO syndrome. ( 24720503 )
2014
46
Diagnosis and treatment of SAPHO syndrome: A case report. ( 25009594 )
2014
47
SAPHO syndrome revealed by sclerosing mandibular osteomyelitis. ( 24699073 )
2014
48
Disease burden, disease manifestations and current treatment regimen of the SAPHO syndrome in Germany: results from a nationwide patient survey. ( 24816195 )
2014
49
Biological treatments for SAPHO syndrome: an update. ( 24846337 )
2014
50
Diffuse sclerosing osteomyelitis (DSO) of the mandible in SAPHO syndrome: a novel approach with anti-TNF therapy. Systematic review. ( 25441866 )
2014

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 11)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.65 CALCA CXCL8 IL18
2 angiogenesis GO:0001525 9.5 CXCL8 IL18 VEGFA
3 positive regulation of epithelial cell proliferation GO:0050679 9.49 NOD2 VEGFA
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 IL18 VEGFA
5 activation of protein kinase activity GO:0032147 9.43 CALCA VEGFA
6 regulation of cell adhesion GO:0030155 9.4 CXCL8 IL18
7 receptor internalization GO:0031623 9.37 CALCA CXCL8
8 positive regulation of interleukin-8 production GO:0032757 9.26 CALCA NOD2
9 induction of positive chemotaxis GO:0050930 9.16 CXCL8 VEGFA
10 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.02 IL18 LPIN2 NOD2 TP53 VEGFA
11 positive regulation of interleukin-17 production GO:0032740 8.96 IL18 NOD2

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 CXCL8 IL18 VEGFA

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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