MCID: SPH001
MIFTS: 44

Sapho Syndrome malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

About this section

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

About this section
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 chronic recurrent multifocal osteomyelitis and pustulosis palmaris et plantaris, and has symptoms including bone pain, osteolysis and increased bone mineral density. An important gene associated with Sapho Syndrome is LPIN2 (Lipin 2), and among its related pathways are Shigellosis and Legionellosis. Affiliated tissues include bone, skin and neutrophil, and related mouse phenotype Synthetic lethal with MLN4924 (a NAE inhibitor).

Related Diseases for Sapho Syndrome

About this section

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1chronic recurrent multifocal osteomyelitis11.2
2pustulosis palmaris et plantaris10.9
3acne10.4
4hyperostosis10.4
5synovitis10.4
6oropharynx cancer10.3CXCL8, NOD2
7uterine corpus endometrial stromal sarcoma10.3CXCL8, NOD2
8cervical incompetence10.3CXCL8, IL18
9qualitative platelet defect10.3CXCL8, IL18
10neurofibroma of the esophagus10.3CXCL8, IL18
11scrotum melanoma10.3CXCL8, IL18
12pleomorphic lipoma10.3CXCL8, LPIN2
13oral candidiasis10.3CXCL8, IL18
14osteomyelitis10.2
15chronic endophthalmitis10.2CXCL8, NOD2
16nervous system cancer10.2CXCL8, IL18
17strabismus10.1CALCA, TP53
18mixed endometrial stromal and smooth muscle tumor10.1CALCA, TP53
19orbital lymphangioma10.1CXCL8, TP53
20arthritis10.1
21pediatric supratentorial ependymoma10.1CXCL8, TP53
22spondylitis10.1
23evans' syndrome10.1CXCL8, TP53
24synostosis10.1CXCL8, TP53
25neuroma10.1CALCA, TP53
26cell type cancer10.0CALCA, TP53
27vitamin d-dependent rickets, type i10.0CXCL8, TP53
28benign renovascular hypertension10.0CXCL8, NOD2
29kidney benign neoplasm10.0CALCA, TP53
30middle cerebral artery infarction10.0IL18, VEGFA
31retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities10.0CXCL8, TP53
32dysgraphia10.0CALCA, TP53
33geniculate herpes zoster10.0CXCL8, TP53
34heart septal defect10.0CXCL8, TP53
35t-cell lymphoma 1a10.0CXCL8, VEGFA
36gasserian ganglion meningioma10.0CXCL8, VEGFA
37marchiafava bignami disease10.0CXCL8, VEGFA
38burns10.0CXCL8, VEGFA
39psoriatic arthritis10.0
40carcinoma of the vocal tract9.9CALCA, VEGFA
41keratosis9.9CXCL8, IL18, NOD2
42tollner horst manzke syndrome9.9CXCL8, VEGFA
43goodpasture syndrome9.9CXCL8, IL18, NOD2
44sacrococcygeal teratoma9.9CXCL8, VEGFA
45perianal skin paget's disease9.9CXCL8, NOD2
46neuropathy, hereditary sensory and autonomic, type vi9.9CXCL8, VEGFA
47kidney sarcoma9.9TP53, VEGFA
48lateral sclerosis9.9CXCL8, VEGFA
49pylorus cancer9.9TP53, VEGFA
50stampe sorensen syndrome9.9TP53, VEGFA

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



Diseases related to sapho syndrome

Symptoms & Phenotypes for Sapho Syndrome

About this section

Human phenotypes related to Sapho Syndrome:

 64 54 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
2 osteolysis64 54 hallmark (90%) Very frequent (99-80%) HP:0002797
3 increased bone mineral density64 hallmark (90%) HP:0011001
4 chest pain64 54 hallmark (90%) Very frequent (99-80%) HP:0100749
5 hyperostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0100774
6 acne64 54 typical (50%) Frequent (79-30%) HP:0001061
7 arthritis64 54 typical (50%) Frequent (79-30%) HP:0001369
8 osteomyelitis64 54 typical (50%) Frequent (79-30%) HP:0002754
9 psoriasis64 54 typical (50%) Frequent (79-30%) HP:0003765
10 abnormality of the sacroiliac joint64 54 typical (50%) Frequent (79-30%) HP:0100781
11 palmoplantar pustulosis64 54 typical (50%) Frequent (79-30%) HP:0100847
12 skin rash64 54 occasional (7.5%) Occasional (29-5%) HP:0000988
13 malabsorption64 54 occasional (7.5%) Occasional (29-5%) HP:0002024
14 abdominal pain64 54 occasional (7.5%) Occasional (29-5%) HP:0002027
15 inflammation of the large intestine64 54 occasional (7.5%) Occasional (29-5%) HP:0002037
16 vasculitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002633
17 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
18 thrombophlebitis64 occasional (7.5%) HP:0004418
19 cranial nerve paralysis64 54 occasional (7.5%) Occasional (29-5%) HP:0006824
20 skin ulcer64 occasional (7.5%) HP:0200042
21 abnormality of the thorax54 Very frequent (99-80%)
22 abnormality of the vertebral column54 Frequent (79-30%)
23 edema54 Frequent (79-30%)
24 recurrent skin infections54 Occasional (29-5%)
25 chronic diarrhea54 Occasional (29-5%)
26 steatorrhea54 Occasional (29-5%)
27 arthralgia54 Very frequent (99-80%)
28 venous thrombosis54 Occasional (29-5%)
29 craniofacial osteosclerosis54 Very frequent (99-80%)
30 neoplasm of the skeletal system54 Very frequent (99-80%)
31 enthesitis54 Very frequent (99-80%)
32 synovitis54 Very frequent (99-80%)
33 pustule54 Very frequent (99-80%)

UMLS symptoms related to Sapho Syndrome:


pustular rash, application site pustules, pathergy reaction

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

About this section

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 1446
3Bone Density Conservation AgentsPhase 13266

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

About this section

Anatomical Context for Sapho Syndrome

About this section

MalaCards organs/tissues related to Sapho Syndrome:

36
Bone, Skin, Neutrophil, Thyroid, Spinal cord

Publications for Sapho Syndrome

About this section

Articles related to Sapho Syndrome:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
The coexistence of SAPHO syndrome and rheumatoid arthritis: A case report. (28072711)
2017
2
Scleritis Associated with SAPHO Syndrome: A Case Report. (28060551)
2017
3
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. (27846749)
2016
4
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. (27456988)
2016
5
SAPHO syndrome presenting as an osteolytic lesion of the neck. (26793990)
2016
6
SAPHO syndrome with mandibular manifestation. (26729831)
2016
7
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. (27263075)
2016
8
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. (27181039)
2016
9
SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment. (27108452)
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
Etanercept in the treatment of refractory SAPHO syndrome. (28078192)
2016
12
Atypical SAPHO Syndrome With Isolated Manubriosternal Inflammation: A Multi-image Demonstration. (27058745)
2016
13
SAPHO syndrome in childhood. A case report. (27993538)
2016
14
Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy. (27936930)
2016
15
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
16
Imaging for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome. (27742022)
2016
17
A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty. (27399138)
2016
18
Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature. (27698770)
2016
19
Neutrophils from patients with SAPHO syndrome show no signs of aberrant NADPH oxidase-dependent production of intracellular reactive oxygen species. (27121779)
2016
20
Gingival pustules and sterile diffuse sclerosing osteomyelitis as a feature of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (26619759)
2016
21
SAPHO Syndrome: Imaging Findings of Vertebral Involvement. (27012293)
2016
22
Comment on "SAPHO Syndrome: Imaging Findings of Vertebral Involvement". (27492076)
2016
23
SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton. (27730042)
2016
24
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. (26359576)
2015
25
The diagnostic usefulness of 18F-fluorodoxyglucose-positron emission tomography/CT in SAPHO syndrome. (25733097)
2015
26
The SAPHO syndrome: a single-center study of 41 adult patients. (25512472)
2015
27
Diagnostic Challenges of SAPHO Syndrome. (26628713)
2015
28
A Case of SAPHO Syndrome with Endodontic Implications and Treatment with Biologic Drugs. (26008113)
2015
29
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
30
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. (25829226)
2015
31
Thrombotic manifestations in SAPHO syndrome. Review of the literature. (25441492)
2015
32
Renal dysfunction due to hydronephrosis by SAPHO syndrome: a case report. (26331013)
2015
33
The salivary proteome profile in patients affected by SAPHO syndrome characterized by a top-down RP-HPLC-ESI-MS platform. (25671558)
2015
34
SAPHO syndrome as a differential diagnosis of metastasis. (26617052)
2015
35
Increased neutrophil infiltration, IL-1 production and a SAPHO syndrome-like phenotype in PSTPIP2-deficient mice. (25602062)
2015
36
Can Isotretinoin Induce Articular Symptoms in SAPHO Syndrome? (26360696)
2015
37
SAPHO syndrome: a review. (25585872)
2015
38
A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome presenting with hypertrophic pachymeningitis. (25549534)
2015
39
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
40
SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. (24726464)
2014
41
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
42
Current knowledge and future prospects for SAPHO syndrome. (25525636)
2014
43
Diffuse sclerosing osteomyelitis (DSO) of the mandible in SAPHO syndrome: a novel approach with anti-TNF therapy. Systematic review. (25441866)
2014
44
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
45
The SAPHO syndrome revisited with an emphasis on spinal manifestations. (25331355)
2014
46
SAPHO syndrome revealed by sclerosing mandibular osteomyelitis. (24699073)
2014
47
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome in Childhood; A Rare Clinical Entity. (25793079)
2014
48
Recurrent unilateral headache associated with SAPHO syndrome. (25030573)
2014
49
SAPHO syndrome treatment with intravenous pamidronate. Retrospective study of 22 patients. (24561020)
2014
50
Biological treatments for SAPHO syndrome: an update. (24846337)
2014

Variations for Sapho Syndrome

About this section

Expression for genes affiliated with Sapho Syndrome

About this section
Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for genes affiliated with Sapho Syndrome

About this section

GO Terms for genes affiliated with Sapho Syndrome

About this section

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-17 productionGO:003274010.3IL18, NOD2
2positive regulation of epithelial cell proliferationGO:005067910.0NOD2, VEGFA
3activation of protein kinase activityGO:00321479.9CALCA, VEGFA
4induction of positive chemotaxisGO:00509309.9CXCL8, VEGFA
5inflammatory responseGO:00069549.7CALCA, CXCL8, IL18
6positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.6IL18, VEGFA
7regulation of cell adhesionGO:00301559.5CXCL8, IL18
8angiogenesisGO:00015259.4CXCL8, IL18, VEGFA
9positive regulation of gene expressionGO:00106289.3IL18, TP53, VEGFA
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.8LPIN2, NOD2, TP53, VEGFA

Sources for Sapho Syndrome

About this section
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