MCID: SPH001
MIFTS: 60

Sapho Syndrome malady

Rare diseases, Bone diseases, Skin diseases categories
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Summaries for Sapho Syndrome

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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 based summary: Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to osteomyelitis and spondylitis, and has symptoms including anomalies of chest/thorax/trunk, thoracic/chest pain and osteosclerosis/osteopetrosis/bone condensation. 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 neutrophil, and related mouse phenotypes are limbs/digits/tail and embryogenesis.

Aliases & Classifications for Sapho Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet
See all sources

Sapho Syndrome, Aliases & Descriptions:

Name: Sapho Syndrome 8 42 10 48
Acquired Hyperostosis Syndrome 42 62
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


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
sapho syndrome:
Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:13677
NCIt39 C84530
SNOMED-CT57 60684003, 203140009
MeSH34 D020083
ICD10 via Orphanet26 M86.3

Related Diseases for Sapho Syndrome

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1osteomyelitis31.4PSTPIP2, LPIN2
2spondylitis31.3NOD2
3psoriatic arthritis30.8TNF
4arthritis30.4TNF, CALCA, NOD2
5crohn's disease30.4TNF, NOD2
6ankylosing spondylitis30.2NOD2, TNF
7ulcerative colitis30.1TNF, TP53, NOD2
8uveitis30.1TNF, NOD2
9hyperostosis10.8
10acne10.8
11synovitis10.7
12complex regional pain syndrome10.4CALCA
13giant cell tumor10.4CALCA
14giant cell glioblastoma10.4MDM2
15pituitary carcinoma10.4PRL
16chronic recurrent multifocal osteomyelitis10.3
17cervicitis10.3
18colitis10.3
19ankylosis10.2
20pyoderma gangrenosum10.2
21pyoderma10.2
22spondyloarthropathy10.2
23venous thrombosis10.2
24inflammatory bowel disease10.2
25li-fraumeni syndrome10.2TP53, MDM2
26thyroid cancer, anaplastic10.2CALCA, TP53
27breast cancer, invasive ductal10.2MDM2, TP53
28neuroendocrine tumor10.1CALCA, PRL
29liposarcoma10.1MDM2, TP53
30leiomyosarcoma10.1MDM2, TP53
31blau syndrome10.1TNF, NOD2
32familial mediterranean fever10.1NOD2, TNF
33grade iii astrocytoma10.1TP53, MDM2
34cushing's syndrome10.1PRL, CALCA
35acute graft versus host disease10.1TNF, NOD2
36hypogonadism10.1CALCA, PRL
37bladder carcinoma10.1MDM2, TP53
38behcet's disease10.0
39osteoarthritis10.0
40rheumatoid arthritis10.0
41spinal cord injury10.0
42hidradenitis suppurativa10.0
43muscular atrophy10.0
44septic arthritis10.0
45aseptic meningitis10.0
46collagenous colitis10.0
47subcorneal pustular dermatosis10.0
48secondary syphilis10.0
49adenocarcinoma10.0
50amyloidosis10.0

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



Diseases related to sapho syndrome

Symptoms for Sapho Syndrome

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Symptoms:

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

HPO human phenotypes related to Sapho Syndrome:

(show all 20)
id Description Frequency HPO Source Accession
1 bone pain hallmark (90%) HP:0002653
2 osteolysis hallmark (90%) HP:0002797
3 increased bone mineral density hallmark (90%) HP:0011001
4 chest pain hallmark (90%) HP:0100749
5 hyperostosis hallmark (90%) HP:0100774
6 acne typical (50%) HP:0001061
7 arthritis typical (50%) HP:0001369
8 osteomyelitis typical (50%) HP:0002754
9 psoriasis typical (50%) HP:0003765
10 abnormality of the sacroiliac joint typical (50%) HP:0100781
11 palmoplantar pustules typical (50%) HP:0100847
12 skin rash occasional (7.5%) HP:0000988
13 malabsorption occasional (7.5%) HP:0002024
14 abdominal pain occasional (7.5%) HP:0002027
15 inflammation of the large intestine occasional (7.5%) HP:0002037
16 vasculitis occasional (7.5%) HP:0002633
17 recurrent fractures occasional (7.5%) HP:0002757
18 thrombophlebitis occasional (7.5%) HP:0004418
19 cranial nerve paralysis occasional (7.5%) HP:0006824
20 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Sapho Syndrome

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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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MalaCards organs/tissues related to Sapho Syndrome:

32
Bone, Skin, Neutrophil, Spinal cord, Thyroid

Animal Models for Sapho Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Sapho Syndrome:

36 (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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Articles related to Sapho Syndrome:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Diagnosis and treatment of SAPHO syndrome: A case report. (25009594)
2014
2
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
3
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
4
Severe inflammation associated with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline. (24533553)
2014
5
The 'hidden' SAPHO syndrome. (24473422)
2014
6
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
7
A systematic review of SAPHO syndrome and inflammatory bowel disease association. (23543087)
2013
8
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
9
SAPHO syndrome presenting as widespread bony metastatic disease of unknown origin. (21249499)
2012
10
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
11
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
12
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. (19551383)
2010
13
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
14
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
15
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
16
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
17
Diagnosing SAPHO syndrome in suspected metastatic bone tumors. (20173449)
2010
18
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
19
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
20
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
21
Femoral and lower costosternal junctions' osteitis in an adult with SAPHO syndrome: An unusual presentation. (17983830)
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
Chronic osteomyelitis of clavicle as primary manifestation of SAPHO syndrome in adolescents: report of four cases and long-term evolution. (17011808)
2006
25
SAPHO syndrome treated with pamidronate. (16394439)
2005
26
Successful treatment of SAPHO syndrome with leflunomide. Report of two cases. (16173265)
2005
27
Hyperostosis and osteitis in Sapho syndrome: conservative or surgical treatment. (15382585)
2004
28
FDG PET helpful for diagnosing SAPHO syndrome. (14508277)
2003
29
A case of SAPHO syndrome with pyoderma gangrenosum and inflammatory bowel disease masquerading as BehAset's disease. (12918720)
2003
30
SAPHO: syndrome or concept? Imaging findings. (12719925)
2003
31
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
32
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
33
A study of musculoskeletal manifestations in 12 patients with SAPHO syndrome. (17039195)
2002
34
SAPHO syndrome of the temporomandibular joint associated with sudden deafness. (10369364)
1999
35
SAPHO syndrome: a long-term follow-up study of 120 cases. (10622680)
1999
36
Sustained response to doxycycline therapy in two patients with SAPHO syndrome. (10211901)
1999
37
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a brief review of a rare condition. (9588288)
1998
38
The SAPHO syndrome: an evolving concept for unifying several idiopathic disorders of bone and skin. (9490935)
1998
39
Bone imaging in SAPHO syndrome. (9790048)
1998
40
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
41
Renal amyloidosis and renal failure--a novel complication of the SAPHO syndrome. (9394337)
1997
42
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
43
Diffuse sclerosing osteomyelitis of the mandible: its characteristics and possible relationship to synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (8859238)
1996
44
Sapho syndrome associated with acne fulminans and prominent acromioclavicular joint involvement. (8668964)
1996
45
Sapho syndrome with femoral hyperostosis. Two case-reports. (8789884)
1996
46
SAPHO syndrome and spondyloarthropathy. (8877947)
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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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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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 pathway37
9.2MDM2, TP53
89.2MDM2, TP53
99.2MDM2, TP53
109.2TP53, MDM2
11
Show member pathways
ATM Signaling Pathway37
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 regulation60
9.2TP53, MDM2
179.2MDM2, TP53
18
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways60
9.0TP53, TNF
19
Show member pathways
Amyotrophic lateral sclerosis (ALS)37
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 Signaling37
Apoptosis37
8.6MDM2, TP53, TNF
258.6MDM2, TP53, TNF
26
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
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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Compounds related to Sapho Syndrome according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1buserelin44 28 1112.0CALCA, PRL
2clonidine44 50 28 1112.8PRL, CALCA
3actinomycin449.8TNF, MDM2
4il 10449.8NOD2, TNF
5infliximab44 50 1111.8TNF, NOD2
6peptidoglycan44 2810.7TNF, NOD2
7octreotide44 61 28 1112.7PRL, CALCA
810-hydroxycamptothecin449.6MDM2, TP53
9bpde449.6MDM2, TP53
10chlorambucil44 1110.6TP53, MDM2
11aflatoxin b144 2410.6TP53, MDM2
12noxa449.6MDM2, TP53
132-chlorodeoxyadenosine449.6MDM2, TP53
14carbamazepine44 50 1111.5TNF, PRL
15dutp449.5TP53, MDM2
16methylmethanesulfonate449.5MDM2, TP53
17roscovitine449.5MDM2, TP53
18fludarabine44 50 1111.5TP53, MDM2
19benzo(a)pyrene449.4TP53, MDM2
20leptomycin b44 6110.4MDM2, TP53
21z-vad-fmk44 6110.4TP53, TNF
22triptolide449.4TP53, TNF
23parthenolide44 210.4TNF, TP53
24flavopiridol44 1110.4MDM2, TP53
25hydrocortisone44 2 61 1112.3CALCA, PRL, TNF
26vincristine44 50 1111.2TP53, CALCA, MDM2
27vinblastine44 50 1111.2MDM2, TP53
28irinotecan44 50 1111.2MDM2, TP53
29guanine44 24 1111.2MDM2, CALCA, TP53
30c2ceramide449.1TP53, TNF
31melphalan44 50 1111.0MDM2, TP53, TNF
32adpribose449.0MDM2, TP53, TNF
33lactacystin449.0TNF, TP53, MDM2
34nitric oxide44 24 1111.0TNF, CALCA, NOD2, MDM2
35sp 60012544 6110.0MDM2, TP53, TNF
36mg 13244 6110.0TNF, TP53, MDM2
37curcumin449.0MDM2, TP53, TNF
38ly294002448.9MDM2, TP53, TNF
39actinomycin d448.9MDM2, TP53, TNF
40pdtc448.7TP53, TNF
41thymidine44 249.7MDM2, TP53, TNF
42estrogen448.6TP53, PRL, CALCA, MDM2
43vegf448.6TNF, TP53, CALCA, MDM2
44cycloheximide448.5TNF, TP53, MDM2

GO Terms for genes affiliated with Sapho Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet