MCID: SPH001
MIFTS: 60

Sapho Syndrome malady

Rare diseases, Bone diseases, Skin diseases categories

Summaries for Sapho Syndrome

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NIH Rare Diseases:43 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 synovitis-acne-pustulosis-hyperostosis-osteitis syndrome, is related to osteomyelitis and spondylitis, 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 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:
10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 49Orphanet, 62UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 28ICD10 via Orphanet
See all sources

Sapho Syndrome, Aliases & Descriptions:

Name: Sapho Syndrome 10 43 12 49
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 43 49
Acquired Hyperostosis Syndrome 43 62
 
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 10
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 43
Synovitis Acne Pustulosis Hyperostosis Osteitis 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
sapho syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:13677
MeSH35 D020083
NCIt40 C84530
SNOMED-CT57 203140009, 60684003
Orphanet49 793
ICD10 via Orphanet28 M86.3

Related Diseases for Sapho Syndrome

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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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Symptoms:

 49 (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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Search NIH Clinical Center for Sapho Syndrome

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:

33
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:

37 (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 226)
idTitleAuthorsYear
1
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. (25829226)
2015
2
Thrombotic manifestations in SAPHO syndrome. Review of the literature. (25441492)
2015
3
Diagnosis and treatment of SAPHO syndrome: A case report. (25009594)
2014
4
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
5
SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. (24726464)
2014
6
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
7
Severe inflammation associated with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline. (24533553)
2014
8
Current knowledge and future prospects for SAPHO syndrome. (25525636)
2014
9
The 'hidden' SAPHO syndrome. (24473422)
2014
10
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
11
A systematic review of SAPHO syndrome and inflammatory bowel disease association. (23543087)
2013
12
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
13
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
14
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
15
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. (19551383)
2010
16
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
17
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
18
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
19
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
20
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
21
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
22
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
23
Femoral and lower costosternal junctions' osteitis in an adult with SAPHO syndrome: An unusual presentation. (17983830)
2008
24
Diagnosing active inflammation in the SAPHO syndrome using 18FDG-PET/CT in suspected metastatic vertebral bone tumors. (17952557)
2007
25
Propionibacterium acnes and SAPHO syndrome: a case report and literature review. (17631745)
2007
26
Chronic osteomyelitis of clavicle as primary manifestation of SAPHO syndrome in adolescents: report of four cases and long-term evolution. (17011808)
2006
27
SAPHO syndrome treated with pamidronate. (16394439)
2005
28
Successful treatment of SAPHO syndrome with leflunomide. Report of two cases. (16173265)
2005
29
Hyperostosis and osteitis in Sapho syndrome: conservative or surgical treatment. (15382585)
2004
30
FDG PET helpful for diagnosing SAPHO syndrome. (14508277)
2003
31
A case of SAPHO syndrome with pyoderma gangrenosum and inflammatory bowel disease masquerading as BehAset's disease. (12918720)
2003
32
SAPHO: syndrome or concept? Imaging findings. (12719925)
2003
33
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
34
A study of musculoskeletal manifestations in 12 patients with SAPHO syndrome. (17039195)
2002
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
Sustained response to doxycycline therapy in two patients with SAPHO syndrome. (10211901)
1999
38
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a brief review of a rare condition. (9588288)
1998
39
The SAPHO syndrome: an evolving concept for unifying several idiopathic disorders of bone and skin. (9490935)
1998
40
Bone imaging in SAPHO syndrome. (9790048)
1998
41
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
42
Renal amyloidosis and renal failure--a novel complication of the SAPHO syndrome. (9394337)
1997
43
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
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
SAPHO syndrome and spondyloarthropathy. (8877947)
1996
48
SAPHO syndrome. (7501856)
1995
49
SAPHO syndrome. (8453142)
1993
50
SAPHO syndrome. (1532859)
1992

Variations for Sapho Syndrome

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Expression for genes affiliated with Sapho Syndrome

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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 pathway38
9.2MDM2, TP53
89.2MDM2, TP53
99.2MDM2, TP53
109.2TP53, MDM2
11
Show member pathways
ATM Signaling Pathway38
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)38
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 Signaling38
Apoptosis38
8.6MDM2, TP53, TNF
258.6MDM2, TP53, TNF
26
Show member pathways
Proteasome Degradation38
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
1buserelin45 30 1312.0CALCA, PRL
2clonidine45 51 30 1312.8PRL, CALCA
3actinomycin459.8TNF, MDM2
4il 10459.8NOD2, TNF
5infliximab45 51 1311.8TNF, NOD2
6peptidoglycan45 3010.7TNF, NOD2
7octreotide45 61 30 1312.7PRL, CALCA
810-hydroxycamptothecin459.6MDM2, TP53
9bpde459.6MDM2, TP53
10chlorambucil45 1310.6TP53, MDM2
11aflatoxin b145 2610.6TP53, MDM2
12noxa459.6MDM2, TP53
132-chlorodeoxyadenosine459.6MDM2, TP53
14carbamazepine45 51 1311.5TNF, PRL
15dutp459.5TP53, MDM2
16methylmethanesulfonate459.5MDM2, TP53
17roscovitine459.5MDM2, TP53
18fludarabine45 51 1311.5TP53, MDM2
19benzo(a)pyrene459.4TP53, MDM2
20leptomycin b45 6110.4MDM2, TP53
21z-vad-fmk45 6110.4TP53, TNF
22triptolide459.4TP53, TNF
23parthenolide45 310.4TNF, TP53
24flavopiridol45 1310.4MDM2, TP53
25hydrocortisone45 3 61 1312.3CALCA, PRL, TNF
26vincristine45 51 1311.2TP53, CALCA, MDM2
27vinblastine45 51 1311.2MDM2, TP53
28irinotecan45 51 1311.2MDM2, TP53
29guanine45 26 1311.2MDM2, CALCA, TP53
30c2ceramide459.1TP53, TNF
31melphalan45 51 1311.0MDM2, TP53, TNF
32adpribose459.0MDM2, TP53, TNF
33lactacystin459.0TNF, TP53, MDM2
34nitric oxide45 26 1311.0TNF, CALCA, NOD2, MDM2
35sp 60012545 6110.0MDM2, TP53, TNF
36mg 13245 6110.0TNF, TP53, MDM2
37curcumin459.0MDM2, TP53, TNF
38ly294002458.9MDM2, TP53, TNF
39actinomycin d458.9MDM2, TP53, TNF
40pdtc458.7TP53, TNF
41thymidine45 269.7MDM2, TP53, TNF
42estrogen458.6TP53, PRL, CALCA, MDM2
43vegf458.6TNF, TP53, CALCA, MDM2
44cycloheximide458.5TNF, 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:00166048.9MDM2, TP53
2protein complexGO:00432348.7MDM2, NOD2, TP53
3cytosolGO:00058298.0PSTPIP2, 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:00507279.8CALCA, NOD2
2positive regulation of humoral immune response mediated by circulating immunoglobulinGO:00029259.8NOD2, TNF
3negative regulation of growth of symbiont in hostGO:00441309.8TNF, NOD2
4defense response to Gram-positive bacteriumGO:00508309.7TNF, NOD2
5positive regulation of interleukin-6 productionGO:00327559.7NOD2, TNF
6JNK cascadeGO:00072549.6NOD2, TNF
7positive regulation of JNK cascadeGO:00463309.5TNF, NOD2
8response to antibioticGO:00466779.4MDM2, TP53
9response to salt stressGO:00096519.3TP53, TNF
10protein import into nucleus, translocationGO:00000609.3TNF, TP53
11positive regulation of neuron apoptotic processGO:00435259.2TP53, TNF
12DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.2MDM2, TP53
13cellular response to hypoxiaGO:00714569.2MDM2, TP53
14positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.2NOD2, TP53
15positive regulation of transcription from RNA polymerase II promoterGO:00459448.6NOD2, LPIN2, TP53, TNF
16negative regulation of transcription, DNA-templatedGO:00458928.5MDM2, CALCA, TP53, TNF
17negative regulation of transcription from RNA polymerase II promoterGO:00001228.3TNF, TP53, MDM2

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.5CALCA, PRL
2p53 bindingGO:00020399.1MDM2, TP53
3enzyme bindingGO:00198998.8TP53, NOD2, MDM2
4protease bindingGO:00020208.7TP53, TNF
5identical protein bindingGO:00428028.2MDM2, CALCA, TP53, TNF

Products for genes affiliated with Sapho Syndrome

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Sources for Sapho Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet