MCID: SPH001
MIFTS: 46

Sapho Syndrome malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

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Aliases & Descriptions for Sapho Syndrome:

Name: Sapho Syndrome 11 48 54 13
Acquired Hyperostosis Syndrome 48 39
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 11
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 68
 
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 48
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 54
Synovitis Acne Pustulosis Hyperostosis Osteitis 48

Characteristics:

Orphanet epidemiological data:

54
sapho syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:13677
MeSH39 D020083
SNOMED-CT62 203140009, 60684003
Orphanet54 ORPHA793
ICD10 via Orphanet31 M86.3

Summaries for Sapho Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Sapho Syndrome is LPIN2 (Lipin 2), and among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Shigellosis. Affiliated tissues include bone, skin and neutrophil, and related mouse phenotype Synthetic lethal with MLN4924 (a NAE inhibitor).

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 94)
idRelated DiseaseScoreTop Affiliating Genes
1psoriatic arthritis30.2IL18, NOD2
2chronic recurrent multifocal osteomyelitis11.2
3pustulosis palmaris et plantaris10.8
4acne10.4
5hyperostosis10.4
6synovitis10.3
7osteomyelitis10.2
8multiple sulfatase deficiency10.2IL18, NOD2
9coronary arterial fistulas10.2CXCL8, NOD2
10amyotrophic lateral sclerosis type 1410.1CXCL8, NOD2
11parkinson disease 1110.1CXCL8, NOD2
12acute myeloid leukemia with recurrent genetic anomaly10.1IL18, NOD2
13bacterial conjunctivitis10.1CXCL8, IL18
14malignant histiocytosis10.1CXCL8, NOD2
15stomatitis10.1CXCL8, IL18
16glucose intolerance10.1CXCL8, IL18
17histiocytoma10.1CXCL8, NOD2
18acquired thrombocytopenia10.1CXCL8, IL18
19ulcerative proctitis10.1CXCL8, VEGFA
20arthritis10.1
21orthostatic proteinuria10.1CXCL8, IL18
22allergic bronchopulmonary aspergillosis10.1CXCL8, IL18
23spondylitis10.1
24coronary stenosis10.1TP53, VEGFA
25pyloric antrum cancer10.1TP53, VEGFA
26spastic paraplegia 110.1TP53, VEGFA
27mucopolysaccharidosis10.1TP53, VEGFA
28fallopian tube carcinosarcoma10.0TP53, VEGFA
29placental site trophoblastic tumor10.0TP53, VEGFA
30gallbladder papillomatosis10.0TP53, VEGFA
31interstitial lung disease10.0TP53, VEGFA
32kidney benign neoplasm10.0TP53, VEGFA
33benign eccrine breast spiradenoma10.0CXCL8, IL18, NOD2
34metagonimiasis10.0TP53, VEGFA
35glycogen storage disease ix10.0CXCL8, IL18, NOD2
36goodpasture syndrome10.0CXCL8, IL18, NOD2
37cleft palate cardiac defect ectrodactyly10.0TP53, VEGFA
38senile reticular retinal degeneration10.0CALCA, CXCL8
39cardioauditory syndrome of sanchez cascos10.0CALCA, VEGFA
40stickler syndrome, type i10.0CXCL8, TP53
41perineural angioma10.0CALCA, TP53
42lung occult small cell carcinoma10.0CALCA, TP53
43thrombosis9.9
44cowpox9.9CXCL8, TP53
45uterine ligament clear cell adenocarcinoma9.9CXCL8, NOD2, TP53
46epidermolysis bullosa simplex, sutosomal recessive 29.9CXCL8, VEGFA
47human granulocytic anaplasmosis9.9TP53, VEGFA
48nasal cavity disease9.9TP53, VEGFA
49immunodeficiency due to a late component of complement deficiency9.9CXCL8, TP53, VEGFA
50in situ pulmonary adenocarcinoma9.9CXCL8, TP53, VEGFA

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



Diseases related to sapho syndrome

Symptoms & Phenotypes for Sapho Syndrome

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Human phenotypes related to Sapho Syndrome:

 54 64 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the thorax54 Very frequent (99-80%)
2 abnormality of the vertebral column54 Frequent (79-30%)
3 edema64 54 Frequent (79-30%) HP:0000969
4 skin rash64 54 Occasional (29-5%) HP:0000988
5 acne64 54 Frequent (79-30%) HP:0001061
6 arthritis64 54 Frequent (79-30%) HP:0001369
7 recurrent skin infections64 54 Occasional (29-5%) HP:0001581
8 malabsorption54 Occasional (29-5%)
9 abdominal pain64 54 Occasional (29-5%) HP:0002027
10 chronic diarrhea64 54 Occasional (29-5%) HP:0002028
11 inflammation of the large intestine64 54 Occasional (29-5%) HP:0002037
12 steatorrhea64 54 Occasional (29-5%) HP:0002570
13 bone pain64 54 Very frequent (99-80%) HP:0002653
14 osteomyelitis64 54 Frequent (79-30%) HP:0002754
15 recurrent fractures64 54 Occasional (29-5%) HP:0002757
16 osteolysis64 54 Very frequent (99-80%) HP:0002797
17 arthralgia64 54 Very frequent (99-80%) HP:0002829
18 psoriasis64 54 Frequent (79-30%) HP:0003765
19 venous thrombosis64 54 Occasional (29-5%) HP:0004936
20 craniofacial osteosclerosis64 54 Very frequent (99-80%) HP:0005464
21 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
22 neoplasm of the skeletal system64 54 Very frequent (99-80%) HP:0010622
23 enthesitis64 54 Very frequent (99-80%) HP:0100686
24 synovitis64 54 Very frequent (99-80%) HP:0100769
25 abnormality of the sacroiliac joint64 54 Frequent (79-30%) HP:0100781
26 palmoplantar pustulosis64 54 Frequent (79-30%) HP:0100847
27 pustule54 Very frequent (99-80%)
28 vasculitis64 54 Occasional (29-5%) HP:0002633
29 chest pain64 54 Very frequent (99-80%) HP:0100749
30 hyperostosis64 54 Very frequent (99-80%) HP:0100774

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-18.5CXCL8, IL18, NOD2, TP53

Drugs & Therapeutics for Sapho Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 2, Phase 14440391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium
2DiphosphonatesPhase 1450
3Bone Density Conservation AgentsPhase 13376

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chronic Non-bacterial Osteomyelitis Treated With PamidronateRecruitingNCT02594878Phase 2
2Efficacy of Bisphosphonates in Patients With Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) SyndromeCompletedNCT02544659Phase 1
3Immune Response in the SAPHO SyndromeCompletedNCT01688219

Search NIH Clinical Center for Sapho Syndrome


Cochrane evidence based reviews: acquired hyperostosis syndrome

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:

36
Bone, Skin, Neutrophil, Thyroid, Spinal cord

Publications for Sapho Syndrome

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Articles related to Sapho Syndrome:

(show top 50)    (show all 259)
idTitleAuthorsYear
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

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Expression for genes affiliated with Sapho Syndrome

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Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for genes affiliated with Sapho Syndrome

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GO Terms for genes affiliated with Sapho Syndrome

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Biological processes related to Sapho Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-17 productionGO:003274010.3IL18, NOD2
2positive regulation of epithelial cell proliferationGO:005067910.3NOD2, VEGFA
3induction of positive chemotaxisGO:005093010.2CXCL8, VEGFA
4positive regulation of tyrosine phosphorylation of STAT proteinGO:004253110.0IL18, VEGFA
5positive regulation of interleukin-8 productionGO:003275710.0CALCA, NOD2
6activation of protein kinase activityGO:00321479.9CALCA, VEGFA
7angiogenesisGO:00015259.7CXCL8, IL18, VEGFA
8receptor internalizationGO:00316239.6CALCA, CXCL8
9regulation of cell adhesionGO:00301559.5CXCL8, IL18
10inflammatory responseGO:00069549.4CALCA, CXCL8, IL18
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.6IL18, LPIN2, NOD2, TP53, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.0CXCL8, IL18, VEGFA

Sources for Sapho Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet