MCID: SPH001
MIFTS: 56

Sapho Syndrome malady

Bone diseases, Skin diseases categories

Summaries for Sapho Syndrome

About this section
Sources:
42NIH Rare Diseases, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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: Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to synovitis and osteomyelitis, and has symptoms including bone pain, bone tumefaction/swelling and arthritis/synovitis/synovial proliferation. An important gene associated with Sapho Syndrome is LPIN2 (lipin 2), and among its related pathways are ErbB4 signaling events and Aurora A signaling. The compounds hydrocortisone and buserelin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related mouse phenotypes are skeleton and nervous system.

Aliases & Classifications for Sapho Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
sapho syndrome:
Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

sapho syndrome 8 42 10 48
acquired hyperostosis syndrome 42 60
synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome 8
synovitis, acne, pustlosis, hyperostosis, and osteomyelitis 42
synovitis-acne-pustulosis-hyperostosis-osteitis syndrome 48
synovitis acne pustulosis hyperostosis osteitis 42


External Ids:

Disease Ontology8 DOID:13677
MeSH34 D020083
NCIt39 C84530
SNOMED-CT56 203140009, 60684003
ICD10 via Orphanet26 M86.3
SNOMED-CT via Orphanet57 60684003

Related Diseases for Sapho Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Sapho Syndrome family:

Adult-Onset Sapho Syndrome Juvenile-Onset Sapho Syndrome

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1synovitis31.0TNF
2osteomyelitis30.8PSTPIP2, LPIN2
3spondylitis30.5NOD2
4arthritis30.5CALCA, NOD2, PTPN22, HLA-B, TNF
5psoriatic arthritis30.3PTPN22, TNF, NOD2
6pyoderma gangrenosum30.2NOD2
7crohn's disease30.2NOD2, TNF
8ulcerative colitis30.2NOD2, HLA-B, TNF
9inflammatory bowel disease30.2PTPN22, TNF, HLA-B, NOD2
10hypothyroidism30.0PRL
11meningitis30.0HLA-B
12amyloidosis30.0HLA-B
13thyroiditis29.9PTPN22, CALCA
14osteosarcoma29.9MDM2, TP53
15adenocarcinoma29.9MDM2, TP53, HLA-B
16rheumatoid arthritis29.9TNF, NOD2, PTPN22
17ankylosing spondylitis29.9NOD2, HLA-B, TNF
18uveitis29.9HLA-B, TNF, NOD2
19psoriasis29.9TNF, HLA-B, NOD2, PTPN22
20hyperostosis10.7
21acne10.7
22image syndrome10.5
23adult syndrome10.3
24cervicitis10.2
25ankylosis10.1
26pyoderma10.1
27spondyloarthropathy10.1
28adult-onset sapho syndrome10.1
29juvenile-onset sapho syndrome10.1
30sneddon syndrome10.0
31subcorneal pustular dermatosis10.0
32aseptic meningitis10.0
33hidradenitis suppurativa10.0
34osteoarthritis10.0
35muscular atrophy10.0
36secondary syphilis10.0
37septic arthritis10.0
38behcet's disease10.0
39hidradenitis10.0
40pancreatitis10.0
41syphilis10.0
42chronic recurrent multifocal osteomyelitis10.0
43dermatitis10.0NOD2
44neuropathy10.0CALCA
45cholera10.0CALCA
46paget's disease of bone10.0CALCA
47hyperparathyroidism10.0CALCA
48giant cell glioblastoma10.0MDM2
49acromegaly10.0PRL
50cushing's syndrome10.0PRL

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



Diseases related to sapho syndrome

Clinical Features for Sapho Syndrome

About this section
Sources:
48Orphanet
See all sources


Symptoms:

48 (show all 20)
  • bone pain
  • bone tumefaction/swelling
  • arthritis/synovitis/synovial proliferation
  • palmoplantar pustulosis
  • vascularitis/vasculitides/arteritis
  • cranial nerves palsy
  • mutiple fractures/bone fragility
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • hyperostosis
  • pustula/pustulosis
  • acne/acnea
  • venous thrombosis/phlebitis/thrombophlebitis
  • osteosclerosis/osteopetrosis/bone condensation
  • osteolysis/osteoclasia/bone destruction/erosions
  • articular/joint pain/arthralgia
  • enthesis anomaly/inflammation/enthesitis/enthesopathy
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • cutaneous edema
  • inflammatory intestinal disease
  • psoriasis

Drugs & Therapeutics for Sapho Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Sapho Syndrome

Drug clinical trials:

Search ClinicalTrials for Sapho Syndrome

Search NIH Clinical Center for Sapho Syndrome

Search CenterWatch for Sapho Syndrome

Genetic Tests for Sapho Syndrome

About this section

Anatomical Context for Sapho Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Sapho Syndrome:

32
Bone, Skin, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Sapho Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.8NOD2, PSTPIP2
2MP:00036319.4PSTPIP2, PRL
3MP:00020069.1MDM2, TNF, CALCA
4MP:00107717.8CALCA, TNF, PSTPIP2, MDM2, PRL, TP53
5MP:00053707.5TP53, PTPN22, PRL, MDM2, TNF
6MP:00053867.3CALCA, TNF, PSTPIP2, HLA-B, MDM2, PRL
7MP:00053977.1TNF, PSTPIP2, HLA-B, MDM2, NOD2, PTPN22
8MP:00053846.9PSTPIP2, HLA-B, MDM2, NOD2, PTPN22, TP53
9MP:00053876.7TP53, TNF, PSTPIP2, HLA-B, MDM2, PRL
10MP:00107686.6CALCA, TNF, PSTPIP2, HLA-B, MDM2, NOD2

Publications for Sapho Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Sapho Syndrome:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
2
Coexistence of seropositive rheumatoid arthritis and SAPHO syndrome. (23731642)
2013
3
Palmoplantar pustulosis presenting with chest pain. Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. (23715612)
2013
4
Anakinra treatment of SAPHO syndrome: short-term results of an open study. (22219141)
2012
5
A case of SAPHO syndrome with diffuse sclerosing osteomyelitis of the mandible treated successfully with prednisolone and bisphosphonate. (21816533)
2012
6
C1-C2 spondylodiscitis in an adult with SAPHO syndrome: an unusual presentation. (20024557)
2012
7
Chronic refractory osteomyelitis as a part of synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a diagnostic challenge. (22295403)
2011
8
The SAPHO syndrome: a clinical and imaging study. (20878342)
2011
9
A case of SAPHO syndrome presenting as isolated iliitis and spondylitis. (21807807)
2011
10
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
11
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
12
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
13
Successful treatment of SAPHO syndrome with adalimumab: a case report. (20446011)
2010
14
SAPHO syndrome with unusual cutaneous manifestations treated successfully with etanercept. (20814638)
2010
15
Fluctuating mixed-type hearing loss associated with synovitis-acne-pustulosis-hyperostosis-osteomyelitis (SAPHO) syndrome. (19864094)
2010
16
SAPHO syndrome with bacillus Calmette-Guerin (BCG) immunotherapy for bladder cancer. (22767524)
2010
17
New insights into synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. (19772827)
2009
18
Successful treatment of SAPHO syndrome with an oral bisphosphonate. (18998139)
2009
19
Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study. (19772564)
2009
20
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
21
Successful treatment of primary chronic osteomyelitis in SAPHO syndrome with bisphosphonates. (18266863)
2008
22
SAPHO syndrome - rare case of joint damage treated by knee synovectomy and total hip joint replacement. (18601821)
2008
23
Aseptic meningitis as a rare manifestation of sapho syndrome. (19001257)
2008
24
Long-delayed onset of chest wall pain defining a patient with SAPHO syndrome. (18176144)
2007
25
Valuable lessons from SAPHO syndrome. (17347017)
2007
26
Two cases of synovitis, acne, pustulosis, osteitis--SAPHO syndrome. (17684587)
2007
27
A case of non-malignant multifocal lesions on the methyl diphosphonate technetium-99m bone scan with enteropathy. SAPHO syndrome. (17450247)
2007
28
Pulmonary adenocarcinoma associated with SAPHO syndrome difficult to differentiate from multiple bone metastasis. (16702748)
2006
29
Sternocostoclavicular hyperostosis in SAPHO-syndrome. (16038241)
2005
30
Multiple venous thrombosis in SAPHO syndrome. (15708908)
2005
31
Acne fulminans with synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome treated with infliximab. (15858507)
2005
32
Pamidronate in the treatment of childhood SAPHO syndrome. (15238641)
2004
33
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
34
Diagnostic management of patients with SAPHO syndrome: use of MR imaging to guide bone biopsy at CT for microbiological and histological work-up. (14534805)
2003
35
Cervical involvement in SAPHO syndrome: imaging findings with a 10-year follow-up. (12589491)
2003
36
Clinical images: Unrecognized SAPHO syndrome as a rare cause of chronic anterior chest. (11840472)
2002
37
Successful treatment of SAPHO syndrome with infliximab: report of two cases. (11874849)
2002
38
Acne with chronic recurrent multifocal osteomyelitis involving the mandible as part of the SAPHO syndrome: case report. (11286450)
2001
39
Diffuse chronic sclerosing osteomyelitis and the synovitis, acne, pustolosis, hyperostosis, osteitis (SAPHO) syndrome in two sisters. (10691145)
2000
40
SAPHO syndrome: 20-year follow-up. (10231914)
1999
41
SAPHO syndrome or psoriatic arthritis? A familial case study. (10371287)
1999
42
Bone imaging in SAPHO syndrome. (9790048)
1998
43
SAPHO syndrome mimicking metastases on bone scintigraphy. (9790047)
1998
44
Diffuse sclerosing osteomyelitis of the mandible: its characteristics and possible relationship to synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (8859238)
1996
45
Sapho syndrome associated with acne fulminans and prominent acromioclavicular joint involvement. (8668964)
1996
46
Sapho syndrome with femoral hyperostosis. Two case-reports. (8789884)
1996
47
Osseous manifestations of SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome. (8898841)
1996
48
SAPHO syndrome. (7501856)
1995
49
SAPHO syndrome: a new pulmonary manifestation? (8596174)
1995
50
Iliac osteosarcoma in a patient with SAPHO syndrome. (7600067)
1995

Genetic Variations for Sapho Syndrome

About this section

Expression for genes affiliated with Sapho Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Sapho Syndrome

Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for genes affiliated with Sapho Syndrome

About this section
Sources:
37NCBI BioSystems Database, 51QIAGEN, 29KEGG
See all sources

Compounds for genes affiliated with Sapho Syndrome

About this section
Sources:
44Novoseek, 2BitterDB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
See all sources

Compounds related to Sapho Syndrome according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1hydrocortisone44 2 59 1113.4CALCA
2buserelin44 28 1111.9PRL, CALCA
310-hydroxycamptothecin449.9MDM2, TP53
4bpde449.8TP53, MDM2
5actinomycin449.8MDM2, TNF
6chlorambucil44 1110.8TP53, MDM2
7abacavir44 49 1111.7HLA-B, TNF
8vincristine44 49 1111.5TP53, MDM2, CALCA
9aflatoxin b144 2410.5MDM2, TP53
10z-vad-fmk44 5910.4TNF, TP53
11carbamazepine44 49 1111.3PRL, HLA-B, TNF
12melphalan44 1110.3TP53, MDM2, TNF
135-aza-2deoxycytidine449.3TP53, MDM2, HLA-B
14adpribose449.3TNF, MDM2, TP53
15lactacystin449.3TP53, MDM2, TNF
16noxa449.3TP53, MDM2
17sp 60012544 5910.3TP53, MDM2, TNF
18mg 13244 5910.3TNF, MDM2, TP53
19guanine44 11 2411.2TP53, MDM2, CALCA
20curcumin449.2TNF, MDM2, TP53
21testosterone44 59 11 2412.0PRL, MDM2, HLA-B, CALCA
22nitric oxide44 11 2410.7NOD2, MDM2, HLA-B, TNF, CALCA
23dexamethasone44 49 28 1111.6PRL, MDM2, HLA-B, TNF
24arginine448.3HLA-B, MDM2, PRL, PTPN22, TP53

GO Terms for genes affiliated with Sapho Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Sapho Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:0166049.6TP53, MDM2

Biological processes related to Sapho Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of humoral immune response mediated by circulating immunoglobulinGO:0029259.7NOD2, TNF
2response to antibioticGO:0466779.6TP53, MDM2
3detection of bacteriumGO:0160459.6HLA-B, NOD2
4negative regulation of growth of symbiont in hostGO:0441309.5TNF, NOD2
5response to salt stressGO:0096519.4TP53, TNF
6protein import into nucleus, translocationGO:0000609.0TP53, TNF
7negative regulation of transcription, DNA-dependentGO:0458928.7CALCA, TNF, MDM2, TP53

Molecular functions related to Sapho Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.3TP53, NOD2, MDM2
2identical protein bindingGO:0428028.3TP53, MDM2, TNF, CALCA

Products for genes affiliated with Sapho Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sapho Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet