MCID: SPH001
MIFTS: 59

Sapho Syndrome malady

Rare diseases, Bone diseases, Skin diseases categories

Summaries for Sapho Syndrome

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 causeĀ of sapho syndrome isĀ 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 osteomyelitis and spondylitis, and has symptoms including biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp, inflammatory intestinal disease and vascularitis/vasculitides/arteritis. An important gene associated with Sapho Syndrome is LPIN2 (lipin 2), and among its related pathways are ErbB4 signaling events and Canonical NF-kappaB pathway. The compounds buserelin and clonidine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and thyroid, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Sapho Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
sapho syndrome:
Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

sapho syndrome 9 44 11 50
acquired hyperostosis syndrome 44 63
synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome 9
synovitis, acne, pustlosis, hyperostosis, and osteomyelitis 44
synovitis-acne-pustulosis-hyperostosis-osteitis syndrome 50
synovitis acne pustulosis hyperostosis osteitis 44


External Ids:

Disease Ontology9 DOID:13677
NCIt41 C84530
MeSH36 D020083
SNOMED-CT59 203140009, 60684003
ICD10 via Orphanet27 M86.3
SNOMED-CT via Orphanet60 60684003

Related Diseases for Sapho Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Sapho Syndrome:



Diseases related to sapho syndrome

Symptoms for Sapho Syndrome

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50Orphanet
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Symptoms:

50 (show all 24)
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp
  • inflammatory intestinal disease
  • vascularitis/vasculitides/arteritis
  • hyperostosis
  • anomalies of spine, vertebrae and pelvis
  • bone tumefaction/swelling
  • bone pain
  • sacroiliac joints anomalies
  • palmoplantar pustulosis
  • venous thrombosis/phlebitis/thrombophlebitis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • malabsorption/chronic diarrhea/steatorrhea
  • cranial nerves palsy
  • osteosclerosis/osteopetrosis/bone condensation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • psoriasis
  • anomalies of chest/thorax/trunk
  • mutiple fractures/bone fragility
  • acne/acnea
  • thoracic/chest pain
  • acute abdominal pain/colic
  • osteolysis/osteoclasia/bone destruction/erosions
  • arthritis/synovitis/synovial proliferation

Drugs & Therapeutics for Sapho Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Sapho Syndrome

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Anatomical Context for Sapho Syndrome

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34MalaCards
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MalaCards organs/tissues related to Sapho Syndrome:

34
Bone, Skin, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sapho Syndrome:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.2TNF, TP53, PSTPIP2, MDM2
2MP:00053808.2MDM2, CALCA, TP53, TNF
3MP:00053828.2TNF, TP53, PSTPIP2, MDM2
4MP:00053708.1MDM2, PRL, TP53, TNF
5MP:00053818.1MDM2, NOD2, TP53, TNF
6MP:00020067.9TNF, TP53, PRL, CALCA, MDM2
7MP:00053977.7TNF, TP53, PSTPIP2, NOD2, MDM2
8MP:00053907.5MDM2, NOD2, CALCA, PSTPIP2, TP53, TNF
9MP:00107687.4TNF, TP53, PSTPIP2, CALCA, NOD2, MDM2
10MP:00107717.4TNF, TP53, PRL, PSTPIP2, CALCA, MDM2
11MP:00053847.4TNF, TP53, PSTPIP2, NOD2, MDM2
12MP:00053877.4TNF, TP53, PRL, PSTPIP2, NOD2, MDM2
13MP:00053867.4TNF, TP53, PRL, PSTPIP2, CALCA, MDM2
14MP:00036317.3TNF, TP53, PRL, PSTPIP2, CALCA, MDM2

Publications for Sapho Syndrome

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53PubMed
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Articles related to Sapho Syndrome:

(show top 50)    (show all 198)
idTitleAuthorsYear
1
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
2
A systematic review of SAPHO syndrome and inflammatory bowel disease association. (23543087)
2013
3
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
4
SAPHO syndrome presenting as widespread bony metastatic disease of unknown origin. (21249499)
2012
5
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
6
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
7
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. (19551383)
2010
8
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
9
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
10
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
11
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
12
Diagnosing SAPHO syndrome in suspected metastatic bone tumors. (20173449)
2010
13
Successful treatment of SAPHO syndrome with ibandronate. (20661079)
2010
14
Successful treatment of SAPHO syndrome with adalimumab: a case report. (20446011)
2010
15
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
16
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
17
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
18
Femoral and lower costosternal junctions' osteitis in an adult with SAPHO syndrome: An unusual presentation. (17983830)
2008
19
Diagnosing active inflammation in the SAPHO syndrome using 18FDG-PET/CT in suspected metastatic vertebral bone tumors. (17952557)
2007
20
Propionibacterium acnes and SAPHO syndrome: a case report and literature review. (17631745)
2007
21
Chronic osteomyelitis of clavicle as primary manifestation of SAPHO syndrome in adolescents: report of four cases and long-term evolution. (17011808)
2006
22
Pulmonary adenocarcinoma associated with SAPHO syndrome difficult to differentiate from multiple bone metastasis. (16702748)
2006
23
SAPHO syndrome treated with pamidronate. (16394439)
2005
24
Successful treatment of SAPHO syndrome with leflunomide. Report of two cases. (16173265)
2005
25
Hyperostosis and osteitis in Sapho syndrome: conservative or surgical treatment. (15382585)
2004
26
FDG PET helpful for diagnosing SAPHO syndrome. (14508277)
2003
27
A case of SAPHO syndrome with pyoderma gangrenosum and inflammatory bowel disease masquerading as BehAset's disease. (12918720)
2003
28
SAPHO: syndrome or concept? Imaging findings. (12719925)
2003
29
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
30
Diagnostic points and possible origin of osteomyelitis in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a radiographic study of 77 mandibular osteomyelitis cases. (12867589)
2003
31
A study of musculoskeletal manifestations in 12 patients with SAPHO syndrome. (17039195)
2002
32
SAPHO syndrome of the temporomandibular joint associated with sudden deafness. (10369364)
1999
33
SAPHO syndrome: a long-term follow-up study of 120 cases. (10622680)
1999
34
Sustained response to doxycycline therapy in two patients with SAPHO syndrome. (10211901)
1999
35
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a brief review of a rare condition. (9588288)
1998
36
The SAPHO syndrome: an evolving concept for unifying several idiopathic disorders of bone and skin. (9490935)
1998
37
Bone imaging in SAPHO syndrome. (9790048)
1998
38
SAPHO syndrome mimicking metastases on bone scintigraphy. (9790047)
1998
39
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
40
Renal amyloidosis and renal failure--a novel complication of the SAPHO syndrome. (9394337)
1997
41
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
42
Diffuse sclerosing osteomyelitis of the mandible: its characteristics and possible relationship to synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (8859238)
1996
43
Sapho syndrome associated with acne fulminans and prominent acromioclavicular joint involvement. (8668964)
1996
44
Sapho syndrome with femoral hyperostosis. Two case-reports. (8789884)
1996
45
SAPHO syndrome and spondyloarthropathy. (8877947)
1996
46
The course of the SAPHO syndrome during pregnancy. (9119108)
1996
47
SAPHO syndrome. (7501856)
1995
48
SAPHO syndrome. (8453142)
1993
49
SAPHO syndrome. (1532859)
1992
50
Hyperostosis and multifocal osteitis: a purely rheumatological subset of the SAPHO syndrome. (2144487)
1990

Variations for Sapho Syndrome

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Expression for genes affiliated with Sapho Syndrome

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 61Thomson Reuters, 54QIAGEN, 58SinoBiological, 55R&D Systems
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Pathways related to Sapho Syndrome according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MDM2, PRL
29.5TNF, NOD2
3
Show member pathways
9.5NOD2, TNF
49.4CALCA, TNF
59.2MDM2, TP53
69.2TP53, MDM2
7
Show member pathways
p53 pathway39
9.2MDM2, TP53
89.2MDM2, TP53
99.2MDM2, TP53
109.2TP53, MDM2
11
Show member pathways
ATM Signaling Pathway39
9.2MDM2, TP53
129.2TP53, MDM2
139.2MDM2, TP53
149.2MDM2, TP53
15
Show member pathways
9.2MDM2, TP53
16
Show member pathways
DNA damage Role of SUMO in p53 regulation61
9.2TP53, MDM2
179.2MDM2, TP53
18
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways61
9.0TP53, TNF
19
Show member pathways
Amyotrophic lateral sclerosis (ALS)39
9.0TP53, TNF
209.0TP53, TNF
21
Show member pathways
8.9CALCA, PRL, TNF
228.7MDM2, PRL, TP53
238.7MDM2, PRL, TP53
24
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
8.6MDM2, TP53, TNF
258.6MDM2, TP53, TNF
26
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.6TNF, TP53, MDM2
278.6TNF, TP53, MDM2
28
Show member pathways
8.5PRL, TP53, TNF

Compounds for genes affiliated with Sapho Syndrome

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 3BitterDB
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Compounds related to Sapho Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1buserelin46 30 1212.0CALCA, PRL
2clonidine46 52 30 1212.8PRL, CALCA
3actinomycin469.8TNF, MDM2
4il 10469.8NOD2, TNF
5infliximab46 52 1211.8TNF, NOD2
6peptidoglycan46 3010.7TNF, NOD2
7octreotide46 62 30 1212.7PRL, CALCA
810-hydroxycamptothecin469.6MDM2, TP53
9bpde469.6MDM2, TP53
10chlorambucil46 1210.6TP53, MDM2
11aflatoxin b146 2510.6TP53, MDM2
12noxa469.6MDM2, TP53
132-chlorodeoxyadenosine469.6MDM2, TP53
14carbamazepine46 52 1211.5TNF, PRL
15dutp469.5TP53, MDM2
16methylmethanesulfonate469.5MDM2, TP53
17roscovitine469.5MDM2, TP53
18fludarabine46 52 1211.5TP53, MDM2
19benzo(a)pyrene469.4TP53, MDM2
20leptomycin b46 6210.4MDM2, TP53
21z-vad-fmk46 6210.4TP53, TNF
22triptolide469.4TP53, TNF
23parthenolide46 310.4TNF, TP53
24flavopiridol46 1210.4MDM2, TP53
25hydrocortisone46 3 62 1212.3CALCA, PRL, TNF
26vincristine46 52 1211.2TP53, CALCA, MDM2
27vinblastine46 52 1211.2MDM2, TP53
28irinotecan46 52 1211.2MDM2, TP53
29guanine46 25 1211.2MDM2, CALCA, TP53
30c2ceramide469.1TP53, TNF
31melphalan46 52 1211.0MDM2, TP53, TNF
32adpribose469.0MDM2, TP53, TNF
33lactacystin469.0TNF, TP53, MDM2
34nitric oxide46 25 1211.0TNF, CALCA, NOD2, MDM2
35sp 60012546 6210.0MDM2, TP53, TNF
36mg 13246 6210.0TNF, TP53, MDM2
37curcumin469.0MDM2, TP53, TNF
38ly294002468.9MDM2, TP53, TNF
39actinomycin d468.9MDM2, TP53, TNF
40pdtc468.7TP53, TNF
41thymidine46 259.7MDM2, TP53, TNF
42estrogen468.6TP53, PRL, CALCA, MDM2
43vegf468.6TNF, TP53, CALCA, MDM2
44cycloheximide468.5TNF, TP53, MDM2

GO Terms for genes affiliated with Sapho Syndrome

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17Gene Ontology
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Cellular components related to Sapho Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:0166048.9MDM2, TP53
2protein complexGO:0432348.7MDM2, NOD2, TP53
3cytosolGO:0058298.0PSTPIP2, LPIN2, NOD2, MDM2, TP53

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of inflammatory responseGO:0507279.8CALCA, NOD2
2positive regulation of humoral immune response mediated by circulating immunoglobulinGO:0029259.8NOD2, TNF
3negative regulation of growth of symbiont in hostGO:0441309.8TNF, NOD2
4defense response to Gram-positive bacteriumGO:0508309.7TNF, NOD2
5positive regulation of interleukin-6 productionGO:0327559.7NOD2, TNF
6JNK cascadeGO:0072549.6NOD2, TNF
7positive regulation of JNK cascadeGO:0463309.5TNF, NOD2
8response to antibioticGO:0466779.4MDM2, TP53
9response to salt stressGO:0096519.3TP53, TNF
10protein import into nucleus, translocationGO:0000609.3TNF, TP53
11positive regulation of neuron apoptotic processGO:0435259.2TP53, TNF
12DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.2MDM2, TP53
13cellular response to hypoxiaGO:0714569.2MDM2, TP53
14positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.2NOD2, TP53
15positive regulation of transcription from RNA polymerase II promoterGO:0459448.6NOD2, LPIN2, TP53, TNF
16negative regulation of transcription, DNA-templatedGO:0458928.5MDM2, CALCA, TP53, TNF
17negative regulation of transcription from RNA polymerase II promoterGO:0001228.3TNF, TP53, MDM2

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.5CALCA, PRL
2p53 bindingGO:0020399.1MDM2, TP53
3enzyme bindingGO:0198998.8TP53, NOD2, MDM2
4protease bindingGO:0020208.7TP53, TNF
5identical protein bindingGO:0428028.2MDM2, CALCA, TP53, TNF

Products for genes affiliated with Sapho Syndrome

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Sources for Sapho Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet