MCID: SPH001
MIFTS: 56

Sapho Syndrome malady

Bone diseases, Skin diseases categories

Summaries for Sapho Syndrome

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42NIH Rare Diseases, 32MalaCards
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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

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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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

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Sources:
17GeneCards, 18GeneDecks
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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

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Sources:
48Orphanet
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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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Sapho Syndrome

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32MalaCards
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MalaCards organs/tissues related to Sapho Syndrome:

32
Bone, Skin, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

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36MGI
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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

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50PubMed
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Articles related to Sapho Syndrome:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
SAPHO syndrome. (23597971)
2013
2
Antibiotics may be useful in the treatment of SAPHO syndrome. (23605480)
2013
3
Successful treatment of SAPHO syndrome with severe spinal disorder using entercept: a case study. (21461853)
2012
4
The lobster sign in SAPHO syndrome: unusually extensive osteitis of the anterior chest wall partially responsive to infliximab. (23263495)
2012
5
Effective medical treatment in patients with SAPHO syndrome involving the mandible. (22819457)
2012
6
Intracranial manifestations in SAPHO syndrome: the first case report in literature. (20352220)
2012
7
Entheseal ultrasound abnormalities in patients with SAPHO syndrome. (22349879)
2012
8
SAPHO syndrome associated with hidradenitis suppurativa successfully treated with infliximab and methotrexate. (22035400)
2011
9
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
10
Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. (20032092)
2010
11
Tumor necrosis factor-alpha blockers in SAPHO syndrome. (20472920)
2010
12
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate. (20185354)
2010
13
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
14
SAPHO Syndrome Diagnosis and Treatment: Report of Five Cases and Review of the Literature. (19997538)
2009
15
SAPHO syndrome with adrenal deficiency: a case report. (20184675)
2009
16
Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome. (19471601)
2009
17
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
18
SAPHO syndrome: misdiagnosed and operated. (19078862)
2008
19
Ilium osteitis as the main manifestation of the SAPHO syndrome: response to infliximab therapy and review of the literature. (17976692)
2008
20
SAPHO syndrome associated spondylitis. (18642032)
2008
21
Neutrophil dysfunction in a family with a SAPHO syndrome-like phenotype. (18821685)
2008
22
Diagnosing active inflammation in the SAPHO syndrome using 18FDG-PET/CT in suspected metastatic vertebral bone tumors. (17952557)
2007
23
Propionibacterium acnes and SAPHO syndrome: a case report and literature review. (17631745)
2007
24
A case of SAPHO (synovitis-acne-pustulosis-hyperostosis-osteomyelitis) syndrome in which [18F]fluorodeoxyglucose positron emission tomography was useful for differentiating from multiple metastatic bone tumors. (17278026)
2007
25
Overlapping neutrophilic dermatosis in a patient with SAPHO syndrome. (17310019)
2007
26
SAPHO syndrome with a tumour-like bony proliferative lesion in distal femur. A case report. (16961180)
2006
27
SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. (16491384)
2006
28
SAPHO syndrome masquerading as metastatic bone disease. (16174184)
2005
29
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in a 14-year-old boy: an immunohistochemical study of infiltrating lymphocytes in acneous skin regions. (15906088)
2005
30
SAPHO syndrome treated with pamidronate: an open-label study of 10 patients. (14983108)
2004
31
SAPHO syndrome presenting as septic arthritis in the hip. (12674151)
2003
32
Lumbar spondylodiscitis in SAPHO syndrome: multimodality imaging findings. (12022331)
2002
33
Magnetic resonance imaging findings of manubriosternal joint involvement in SAPHO syndrome. (11434481)
2001
34
Pleural effusion associated with the SAPHO syndrome. (11713173)
2001
35
SAPHO syndrome of the temporomandibular joint associated with sudden deafness. (10369364)
1999
36
SAPHO syndrome: a long-term follow-up study of 120 cases. (10622680)
1999
37
Vertebral involvement in SAPHO syndrome: MRI findings. (10231915)
1999
38
The SAPHO syndrome in children: a rare cause of hyperostosis and osteitis. (10344310)
1999
39
Cervical spinal cord injury in sapho syndrome. (10338354)
1999
40
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a brief review of a rare condition. (9588288)
1998
41
The SAPHO syndrome: defining the radiologic spectrum of diseases comprising the syndrome. (9601968)
1998
42
MR imaging of multifocal spondylodiskitis as the initial manifestations of SAPHO syndrome. (9798900)
1998
43
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
44
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
45
SAPHO syndrome and spondyloarthropathy. (8877947)
1996
46
SAPHO syndrome: a followup study of 19 cases with special emphasis on enthesis involvement. (8596157)
1995
47
Is diffuse sclerosing osteomyelitis of the mandible part of the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome? Analysis of seven cases. (7838465)
1994
48
The SAPHO syndrome in a 16-year-old boy: coincidence of acne conglobata and osteoarthritis. (8476875)
1993
49
SAPHO syndrome. (1532859)
1992
50
Noninfectious osteitis: part of the SAPHO syndrome. (1458784)
1992

Genetic Variations for Sapho Syndrome

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Expression for genes affiliated with Sapho Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Sapho Syndrome

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Sources:
44Novoseek, 2BitterDB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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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

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sapho Syndrome

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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