MCID: SPH001
MIFTS: 44

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 47 53 13
Acquired Hyperostosis Syndrome 47 38
Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome 11
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 67
 
Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis 47
Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome 53
Synovitis Acne Pustulosis Hyperostosis Osteitis 47

Characteristics:

Orphanet epidemiological data:

53
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
MeSH38 D020083
SNOMED-CT61 203140009, 60684003
Orphanet53 ORPHA793
ICD10 via Orphanet30 M86.3

Summaries for Sapho Syndrome

About this section
MalaCards based summary: Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to chronic recurrent multifocal osteomyelitis and pustulosis palmaris et plantaris, 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 Shigellosis and Legionellosis. Affiliated tissues include bone, skin and neutrophil.

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 122)
idRelated DiseaseScoreTop Affiliating Genes
1chronic recurrent multifocal osteomyelitis11.2
2pustulosis palmaris et plantaris10.9
3acne10.4
4hyperostosis10.4
5synovitis10.4
6oropharynx cancer10.3CXCL8, NOD2
7uterine corpus endometrial stromal sarcoma10.3CXCL8, NOD2
8cervical incompetence10.3CXCL8, IL18
9qualitative platelet defect10.3CXCL8, IL18
10neurofibroma of the esophagus10.3CXCL8, IL18
11scrotum melanoma10.3CXCL8, IL18
12pleomorphic lipoma10.3CXCL8, LPIN2
13oral candidiasis10.3CXCL8, IL18
14osteomyelitis10.2
15chronic endophthalmitis10.2CXCL8, NOD2
16nervous system cancer10.2CXCL8, IL18
17strabismus10.1CALCA, TP53
18mixed endometrial stromal and smooth muscle tumor10.1CALCA, TP53
19orbital lymphangioma10.1CXCL8, TP53
20arthritis10.1
21pediatric supratentorial ependymoma10.1CXCL8, TP53
22spondylitis10.1
23evans' syndrome10.1CXCL8, TP53
24synostosis10.1CXCL8, TP53
25neuroma10.1CALCA, TP53
26cell type cancer10.0CALCA, TP53
27vitamin d-dependent rickets, type i10.0CXCL8, TP53
28benign renovascular hypertension10.0CXCL8, NOD2
29kidney benign neoplasm10.0CALCA, TP53
30middle cerebral artery infarction10.0IL18, VEGFA
31retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities10.0CXCL8, TP53
32dysgraphia10.0CALCA, TP53
33geniculate herpes zoster10.0CXCL8, TP53
34heart septal defect10.0CXCL8, TP53
35t-cell lymphoma 1a10.0CXCL8, VEGFA
36gasserian ganglion meningioma10.0CXCL8, VEGFA
37marchiafava bignami disease10.0CXCL8, VEGFA
38burns10.0CXCL8, VEGFA
39psoriatic arthritis10.0
40carcinoma of the vocal tract9.9CALCA, VEGFA
41keratosis9.9CXCL8, IL18, NOD2
42tollner horst manzke syndrome9.9CXCL8, VEGFA
43goodpasture syndrome9.9CXCL8, IL18, NOD2
44sacrococcygeal teratoma9.9CXCL8, VEGFA
45perianal skin paget's disease9.9CXCL8, NOD2
46neuropathy, hereditary sensory and autonomic, type vi9.9CXCL8, VEGFA
47kidney sarcoma9.9TP53, VEGFA
48lateral sclerosis9.9CXCL8, VEGFA
49pylorus cancer9.9TP53, VEGFA
50stampe sorensen syndrome9.9TP53, VEGFA

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



Diseases related to sapho syndrome

Symptoms for Sapho Syndrome

About this section

Human phenotypes related to Sapho Syndrome:

 63 53 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain63 53 hallmark (90%) Very frequent (99-80%) HP:0002653
2 osteolysis63 53 hallmark (90%) Very frequent (99-80%) HP:0002797
3 increased bone mineral density63 hallmark (90%) HP:0011001
4 chest pain63 53 hallmark (90%) Very frequent (99-80%) HP:0100749
5 hyperostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0100774
6 acne63 53 typical (50%) Frequent (79-30%) HP:0001061
7 arthritis63 53 typical (50%) Frequent (79-30%) HP:0001369
8 osteomyelitis63 53 typical (50%) Frequent (79-30%) HP:0002754
9 psoriasis63 53 typical (50%) Frequent (79-30%) HP:0003765
10 abnormality of the sacroiliac joint63 53 typical (50%) Frequent (79-30%) HP:0100781
11 palmoplantar pustulosis63 53 typical (50%) Frequent (79-30%) HP:0100847
12 skin rash63 53 occasional (7.5%) Occasional (29-5%) HP:0000988
13 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
14 abdominal pain63 53 occasional (7.5%) Occasional (29-5%) HP:0002027
15 inflammation of the large intestine63 53 occasional (7.5%) Occasional (29-5%) HP:0002037
16 vasculitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002633
17 recurrent fractures63 53 occasional (7.5%) Occasional (29-5%) HP:0002757
18 thrombophlebitis63 occasional (7.5%) HP:0004418
19 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
20 skin ulcer63 occasional (7.5%) HP:0200042
21 abnormality of the thorax53 Very frequent (99-80%)
22 abnormality of the vertebral column53 Frequent (79-30%)
23 edema53 Frequent (79-30%)
24 recurrent skin infections53 Occasional (29-5%)
25 chronic diarrhea53 Occasional (29-5%)
26 steatorrhea53 Occasional (29-5%)
27 arthralgia53 Very frequent (99-80%)
28 venous thrombosis53 Occasional (29-5%)
29 craniofacial osteosclerosis53 Very frequent (99-80%)
30 neoplasm of the skeletal system53 Very frequent (99-80%)
31 enthesitis53 Very frequent (99-80%)
32 synovitis53 Very frequent (99-80%)
33 pustule53 Very frequent (99-80%)

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
PamidronateapprovedPhase 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
2DiphosphonatesPhase 1446
3Bone Density Conservation AgentsPhase 13266

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) SyndromeCompletedNCT02544659Phase 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

About this section

Anatomical Context for Sapho Syndrome

About this section

MalaCards organs/tissues related to Sapho Syndrome:

35
Bone, Skin, Neutrophil, Thyroid, Spinal cord

Animal Models for Sapho Syndrome or affiliated genes

About this section

Publications for Sapho Syndrome

About this section

Articles related to Sapho Syndrome:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
Synovitis of sternoclavicular and peripheral joints can be detected by ultrasound in patients with SAPHO syndrome. (27846749)
2016
2
Interstitial granulomatous dermatitis occurring in a patient with SAPHO syndrome one month after starting leflunomide, and subsequently disappearing with ustekinumab. (27456988)
2016
3
SAPHO syndrome presenting as an osteolytic lesion of the neck. (26793990)
2016
4
SAPHO syndrome with mandibular manifestation. (26729831)
2016
5
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome - AA challenging diagnosis not to be missed. (27263075)
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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interleukin-17 productionGO:003274010.3IL18, NOD2
2regulation of cell adhesionGO:00301559.7CXCL8, IL18
3positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.7IL18, VEGFA
4induction of positive chemotaxisGO:00509309.6CXCL8, VEGFA
5positive regulation of epithelial cell proliferationGO:00506799.5NOD2, VEGFA
6inflammatory responseGO:00069549.3CALCA, CXCL8, IL18
7activation of protein kinase activityGO:00321479.0CALCA, VEGFA
8angiogenesisGO:00015258.9CXCL8, IL18, VEGFA
9positive regulation of gene expressionGO:00106288.6IL18, TP53, VEGFA
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.2LPIN2, NOD2, TP53, VEGFA

Sources for Sapho Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet