MCID: SPH001
MIFTS: 46

Sapho Syndrome malady

Rare diseases, Bone diseases, Skin diseases categories

Aliases & Classifications for Sapho Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Sapho Syndrome:

Name: Sapho Syndrome 10 45 12 51
Acquired Hyperostosis Syndrome 45 65 36
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 10
 
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 45
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 51
Synovitis Acne Pustulosis Hyperostosis Osteitis 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
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
NCIt42 C84530
MeSH36 D020083
SNOMED-CT59 203140009, 60684003
Orphanet51 793
ICD10 via Orphanet28 M86.3

Summaries for Sapho Syndrome

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NIH Rare Diseases:45 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 hyperostosis and acne, 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 Inhibition of Ribosome Biogenesis by p14(ARF) and DNA damage_ATM/ATR regulation of G1/S checkpoint. Affiliated tissues include bone, skin and neutrophil, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Related Diseases for Sapho Syndrome

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

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis10.8
2acne10.8
3synovitis10.8
4osteomyelitis10.7
5arthritis10.5
6spondylitis10.5
7psoriatic arthritis10.4
8chronic recurrent multifocal osteomyelitis10.4
9secondary syphilis10.3
10cervicitis10.3
11colitis10.3
12rheumatoid arthritis10.2
13adult syndrome10.2
14mucopolysaccharidosis iva10.2
15crohn's disease10.2
16mucopolysaccharidosis iv10.2
17ulcerative colitis10.2
18ankylosis10.2
19pyoderma gangrenosum10.2
20septic arthritis10.2
21amyloidosis10.2
22bone development disease10.2
23osteochondrodysplasia10.2
24pyoderma10.2
25spondyloarthropathy10.2
26skeletal dysplasias10.2
27skeletal dysplasia10.2
28selective iga deficiency disease10.1CALCA, TP53
29clear cell adenoma10.1CALCA, TP53
30prostate stromal sarcoma10.1CALCA, PTPN22
31hashimoto thyroiditis10.1CALCA, PTPN22
32benign hypertensive renal disease10.1CALCA, TP53
33brachyolmia10.1CALCA, TP53
34ring chromosome 810.1MDM2, TP53
35actinic lichen planus10.1MDM2, TP53
36gastric liposarcoma10.1MDM2, TP53
37angioedema10.1MDM2, TP53
38laryngeal mucoepidermoid carcinoma10.1MDM2, TP53
39acantholytic variant squamous cell breast carcinoma10.1MDM2, TP53
40bronchogenic lung adenocarcinoma10.1MDM2, TP53
41autosomal dominant charcot-marie-tooth disease type 2a210.1MDM2, TP53
42biliary tract intraductal papillary mucinous neoplasm10.1MDM2, TP53
43nemaline myopathy10.1MDM2, TP53
44embryonal tumor with multilayered rosettes10.1MDM2, TP53
45childhood brain stem glioma10.1MDM2, TP53
46autosomal dominant charcot-marie-tooth disease type 2f10.1MDM2, TP53
47c syndrome10.1
48aplastic anemia10.1
49spondyloarthropathy 110.1
50child syndrome10.1

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:

 51 (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 pustulosis 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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Drugs for Sapho Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 2, Phase 14240391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium
2DiphosphonatesPhase 1369

Interventional clinical trials:

idNameStatusNCT IDPhase
1Chronic Non-bacterial Osteomyelitis Treated With PamidronateRecruitingNCT02594878Phase 2
2Efficacy of Bisphosphonates in Patients With Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) SyndromeActive, not recruitingNCT02544659Phase 1
3Immune Response in the SAPHO SyndromeCompletedNCT01688219

Search NIH Clinical Center for Sapho Syndrome


Cochrane evidence based reviews: Acquired Hyperostosis 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, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Sapho Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1CALCA, MDM2, TP53, VEGFA
2MP:00053708.1MDM2, PTPN22, TP53, VEGFA
3MP:00053907.9CALCA, MDM2, NOD2, TP53, VEGFA
4MP:00053817.7MDM2, NOD2, PTPN22, TP53, VEGFA
5MP:00053677.4CALCA, MDM2, PTPN22, TP53, VEGFA
6MP:00053857.2CALCA, MDM2, PTPN22, TP53, VEGFA

Publications for Sapho Syndrome

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Articles related to Sapho Syndrome:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. (26359576)
2015
2
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. (25829226)
2015
3
Thrombotic manifestations in SAPHO syndrome. Review of the literature. (25441492)
2015
4
Diagnosis and treatment of SAPHO syndrome: A case report. (25009594)
2014
5
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
6
SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. (24726464)
2014
7
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
8
Severe inflammation associated with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline. (24533553)
2014
9
Current knowledge and future prospects for SAPHO syndrome. (25525636)
2014
10
The 'hidden' SAPHO syndrome. (24473422)
2014
11
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
12
A systematic review of SAPHO syndrome and inflammatory bowel disease association. (23543087)
2013
13
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
14
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
15
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
16
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. (19551383)
2010
17
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
18
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
19
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
20
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
21
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
22
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
23
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
24
Femoral and lower costosternal junctions' osteitis in an adult with SAPHO syndrome: An unusual presentation. (17983830)
2008
25
Diagnosing active inflammation in the SAPHO syndrome using 18FDG-PET/CT in suspected metastatic vertebral bone tumors. (17952557)
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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GO Terms for genes affiliated with Sapho Syndrome

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Cellular components related to Sapho Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.3MDM2, TP53

Biological processes related to Sapho Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cellular response to muramyl dipeptideGO:007122510.2NOD2, PTPN22
2positive regulation of interleukin-8 productionGO:003275710.1CALCA, NOD2
3negative regulation of tumor necrosis factor productionGO:00327209.9NOD2, PTPN22
4DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.8MDM2, TP53
5positive regulation of epithelial cell proliferationGO:00506799.8NOD2, VEGFA
6vasculature developmentGO:00019449.7CALCA, VEGFA
7activation of protein kinase activityGO:00321479.7CALCA, VEGFA
8positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614199.6TP53, VEGFA
9response to antibioticGO:00466779.6MDM2, TP53
10endothelial cell migrationGO:00435429.5CALCA, VEGFA
11positive regulation of peptidyl-tyrosine phosphorylationGO:00507318.9NOD2, TP53, VEGFA
12positive regulation of ERK1 and ERK2 cascadeGO:00703748.7NOD2, PTPN22, VEGFA
13cellular response to hypoxiaGO:00714568.4MDM2, TP53, VEGFA
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.2LPIN2, NOD2, TP53, VEGFA
15positive regulation of gene expressionGO:00106288.2PTPN22, TP53, VEGFA

Molecular functions related to Sapho Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.8MDM2, TP53
2ubiquitin protein ligase bindingGO:00316259.1MDM2, PTPN22, TP53
3enzyme bindingGO:00198998.6MDM2, NOD2, TP53
4identical protein bindingGO:00428028.1CALCA, MDM2, TP53, VEGFA

Sources for Sapho Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet