MCID: SPH001
MIFTS: 48

Sapho Syndrome malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

About this section

Aliases & Descriptions for Sapho Syndrome:

Name: Sapho Syndrome 11 46 13 52
Acquired Hyperostosis Syndrome 46 37
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 11
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 66
 
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 46
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 52
Synovitis Acne Pustulosis Hyperostosis Osteitis 46

Characteristics:

Orphanet epidemiological data:

52
sapho syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:13677
MeSH37 D020083
SNOMED-CT60 203140009, 60684003
Orphanet52 ORPHA793
ICD10 via Orphanet29 M86.3

Summaries for Sapho Syndrome

About this section
NIH Rare Diseases:46 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 chronic recurrent multifocal osteomyelitis and hyperostosis, 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 Legionellosis and Malaria. Affiliated tissues include bone, skin and neutrophil, and related mouse phenotypes are digestive/alimentary and immune system.

Related Diseases for Sapho Syndrome

About this section

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1chronic recurrent multifocal osteomyelitis10.6
2hyperostosis10.5
3acne10.5
4synovitis10.4
5amyotrophic lateral sclerosis type 410.3CXCL8, NOD2
6osteomyelitis10.3
7chromosome 7p duplication10.3MDM2, TP53
8pasli disease10.3MDM2, TP53
9median neuropathy10.3MDM2, TP53
10oropharynx cancer10.3CXCL8, NOD2
11ampulla of vater squamous cell carcinoma10.3MDM2, TP53
12multiple carboxylase deficiency10.3MDM2, TP53
13kidney sarcoma10.3MDM2, TP53
14vaginal yolk sac tumor10.3MDM2, TP53
15bile duct disease10.3MDM2, TP53
16bladder verrucous squamous cell carcinoma10.3MDM2, TP53
17uterine corpus endometrial stromal sarcoma10.3CXCL8, NOD2
18stampe sorensen syndrome10.3MDM2, TP53
19spinal cord glioma10.3MDM2, TP53
20early myoclonic encephalopathy10.3MDM2, TP53
21hypoglossal nerve neoplasm10.3MDM2, TP53
22conversion disorder10.3MDM2, TP53
23emerinopathy10.3MDM2, TP53
24vulvar sebaceous carcinoma10.2MDM2, TP53
25central nervous system rhabdomyosarcoma10.2MDM2, TP53
26pleomorphic lipoma10.2CXCL8, LPIN2
27grade iii astrocytoma10.2MDM2, TP53
28mantle cell lymphoma10.2MDM2, TP53
29orbital lymphangioma10.2CXCL8, TP53
30bilateral retinoblastoma10.2MDM2, TP53
31placental choriocarcinoma10.2MDM2, TP53
32chronic endophthalmitis10.2CXCL8, NOD2
33distal monosomy 9p10.2CXCL8, TP53
34arthritis10.2
35spondylitis10.2
36pharynx cancer10.2MDM2, TP53
37pediatric supratentorial ependymoma10.2CXCL8, TP53
38benign adult familial myoclonic epilepsy10.1CXCL8, PTPN22
39ascending colon cancer10.1MDM2, TP53
40evans' syndrome10.1CXCL8, TP53
41periodontal disease10.1MDM2, TP53
42synostosis10.1CXCL8, TP53
43fallopian tube adenosarcoma10.1MDM2, TP53
44psoriatic arthritis10.1
45clear cell sarcoma10.0MDM2, TP53
46liver leiomyoma10.0PTPN22, TP53
47retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities10.0CXCL8, TP53
48colitis10.0
49cervicitis10.0
50geniculate herpes zoster10.0CXCL8, TP53

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



Diseases related to sapho syndrome

Symptoms for Sapho Syndrome

About this section

Symptoms:

 52 (show all 30)
  • abnormality of the thorax
  • abnormality of the vertebral column
  • edema
  • skin rash
  • acne
  • arthritis
  • recurrent skin infections
  • malabsorption
  • abdominal pain
  • chronic diarrhea
  • inflammation of the large intestine
  • steatorrhea
  • bone pain
  • osteomyelitis
  • recurrent fractures
  • osteolysis
  • arthralgia
  • psoriasis
  • venous thrombosis
  • craniofacial osteosclerosis
  • cranial nerve paralysis
  • neoplasm of the skeletal system
  • enthesitis
  • synovitis
  • abnormality of the sacroiliac joint
  • palmoplantar pustulosis
  • pustule
  • vasculitis
  • chest pain
  • hyperostosis

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

UMLS symptoms related to Sapho Syndrome:


pustular rash, application site pustules, pathergy reaction

Drugs & Therapeutics for Sapho Syndrome

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronatePhase 2, Phase 14440391-99-94674
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

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
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Sapho Syndrome


Cochrane evidence based reviews: acquired hyperostosis syndrome

Genetic Tests for Sapho Syndrome

About this section

Anatomical Context for Sapho Syndrome

About this section

MalaCards organs/tissues related to Sapho Syndrome:

34
Bone, Skin, Neutrophil, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Sapho Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.6IL18, MDM2, NOD2, PTPN22, TP53
2MP:00053877.5IL18, LPIN2, MDM2, NOD2, PTPN22, TP53
3MP:00053977.4IL18, LPIN2, MDM2, NOD2, PTPN22, TP53
4MP:00053787.3IL18, LPIN2, MDM2, NOD2, PTPN22, TP53

Publications for Sapho Syndrome

About this section

Articles related to Sapho Syndrome:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. (27456988)
2016
2
SAPHO syndrome presenting as an osteolytic lesion of the neck. (26793990)
2016
3
SAPHO syndrome with mandibular manifestation. (26729831)
2016
4
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. (27263075)
2016
5
Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator. (27181039)
2016
6
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. (26359576)
2015
7
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
8
SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. (24726464)
2014
9
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
10
Current knowledge and future prospects for SAPHO syndrome. (25525636)
2014
11
Diffuse sclerosing osteomyelitis (DSO) of the mandible in SAPHO syndrome: a novel approach with anti-TNF therapy. Systematic review. (25441866)
2014
12
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
13
SAPHO syndrome. (23597971)
2013
14
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
15
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
16
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
17
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
18
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
19
Diagnosing SAPHO syndrome in suspected metastatic bone tumors. (20173449)
2010
20
Successful treatment of SAPHO syndrome with ibandronate. (20661079)
2010
21
New insights into synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. (19772827)
2009
22
F-18 FDG PET/CT can help differentiate SAPHO syndrome from suspected metastatic bone disease. (19300064)
2009
23
Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome and acne fulminans: are they part of the same disease spectrum? (19508576)
2009
24
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
25
SAPHO syndrome: misdiagnosed and operated. (19078862)
2008
26
Characterization of the immune response in the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (18559374)
2008
27
Propionibacterium acnes and SAPHO syndrome: a case report and literature review. (17631745)
2007
28
SAPHO syndrome: MR appearance of vertebral involvement. (17244716)
2007
29
Is SAPHO syndrome a target for antibiotic therapy? (16601916)
2007
30
Pulmonary adenocarcinoma associated with SAPHO syndrome difficult to differentiate from multiple bone metastasis. (16702748)
2006
31
Successful treatment of SAPHO syndrome with leflunomide. Report of two cases. (16173265)
2005
32
Sternocostoclavicular hyperostosis in SAPHO-syndrome. (16038241)
2005
33
SAPHO syndrome masquerading as metastatic bone disease. (16174184)
2005
34
Ossification of the posterior longitudinal ligament of the cervical spine and SAPHO syndrome. (15996080)
2005
35
FDG PET helpful for diagnosing SAPHO syndrome. (14508277)
2003
36
A case of SAPHO syndrome with pyoderma gangrenosum and inflammatory bowel disease masquerading as BehAset's disease. (12918720)
2003
37
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
38
SAPHO syndrome of the temporomandibular joint associated with sudden deafness. (10369364)
1999
39
SAPHO syndrome: 20-year follow-up. (10231914)
1999
40
The SAPHO syndrome: defining the radiologic spectrum of diseases comprising the syndrome. (9601968)
1998
41
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
42
Subcorneal pustular dermatosis (Sneddon-Wilkinson syndrome): another cutaneous manifestation of SAPHO syndrome? (9189065)
1997
43
Spondylodiscitis in SAPHO syndrome. A series of eight cases. (9059142)
1997
44
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
45
Diffuse sclerosing osteomyelitis of the mandible: its characteristics and possible relationship to synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (8859238)
1996
46
SAPHO syndrome and spondyloarthropathy. (8877947)
1996
47
The course of the SAPHO syndrome during pregnancy. (9119108)
1996
48
SAPHO syndrome. (7501856)
1995
49
SAPHO syndrome. (1532859)
1992
50
Hyperostosis and multifocal osteitis: a purely rheumatological subset of the SAPHO syndrome. (2144487)
1990

Variations for Sapho Syndrome

About this section

Expression for genes affiliated with Sapho Syndrome

About this section
Search GEO for disease gene expression data for Sapho Syndrome.

Pathways for genes affiliated with Sapho Syndrome

About this section

GO Terms for genes affiliated with Sapho Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nuclear bodyGO:00166049.0MDM2, TP53

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-17 productionGO:003274010.2IL18, NOD2
2cellular response to muramyl dipeptideGO:007122510.0NOD2, PTPN22
3lipopolysaccharide-mediated signaling pathwayGO:003166310.0IL18, PTPN22
4regulation of cell adhesionGO:00301559.6CXCL8, IL18
5DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.4MDM2, TP53
6positive regulation of protein export from nucleusGO:00468279.4MDM2, TP53
7response to antibioticGO:00466779.3MDM2, TP53
8cellular response to organic cyclic compoundGO:00714079.2IL18, MDM2, NOD2
9positive regulation of gene expressionGO:00106288.1IL18, MDM2, PTPN22, TP53

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.4MDM2, TP53
2enzyme bindingGO:00198998.6MDM2, NOD2, TP53
3ubiquitin protein ligase bindingGO:00316258.2MDM2, PTPN22, TP53

Sources for Sapho Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet