MCID: SPH001
MIFTS: 52

Sapho Syndrome malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Sapho Syndrome

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Aliases & Descriptions for Sapho Syndrome:

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

Characteristics:

Orphanet epidemiological data:

51
sapho syndrome:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:13677
MeSH36 D020083
NCIt42 C84530
SNOMED-CT59 203140009, 60684003
Orphanet51 793
ICD10 via Orphanet28 M86.3
UMLS65 C0263859

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 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 Inhibition of Ribosome Biogenesis by p14(ARF) and DNA damage_ATM/ATR regulation of G1/S checkpoint. Affiliated tissues include bone, skin and liver, and related mouse phenotypes are renal/urinary system 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 113)
idRelated DiseaseScoreTop Affiliating Genes
1chronic recurrent multifocal osteomyelitis10.6
2hyperostosis10.5
3acne10.5
4synovitis10.4
5osteomyelitis10.3
6hypospadias-hypertelorism-coloboma and deafness syndrome10.3MDM2, VEGFA
7arthritis10.1
8spondylitis10.1
9subglottic angioma10.1MDM2, TP53
10hashimoto thyroiditis10.1CALCA, PTPN22
11spindle cell liposarcoma10.1MDM2, TP53
12herpes simplex10.1MDM2, TP53
13middle ear squamous cell carcinoma10.0MDM2, TP53
14pulmonary immaturity10.0MDM2, TP53
15ovarian endometrioid cystadenoma10.0CALCA, PTPN22
16common bile duct disease10.0MDM2, TP53
17vulva verrucous carcinoma10.0MDM2, TP53
18merrf syndrome10.0MDM2, TP53
19schwannoma of twelfth cranial nerve10.0MDM2, TP53
20sebaceous breast carcinoma10.0MDM2, TP53
21psoriatic arthritis10.0
22factitious disorder10.0MDM2, TP53
23breast adenomyoepithelial adenosis10.0MDM2, TP53
24liver rhabdomyosarcoma10.0MDM2, TP53
25anterior spinal artery syndrome10.0MDM2, TP53
26actinic lichen planus10.0MDM2, TP53
27adult astrocytic tumour10.0MDM2, TP53
28familial retinoblastoma10.0MDM2, TP53
29peritoneal benign neoplasm10.0MDM2, TP53
30fallopian tube leiomyosarcoma10.0TP53, VEGFA
31colitis10.0
32cervicitis10.0
33hypothyroidism due to deficient transcription factors involved in pituitary development or function10.0TP53, VEGFA
34carbuncle10.0MDM2, TP53
35kidney cancer9.9MDM2, TP53
36kidney benign neoplasm9.9TP53, VEGFA
37homocystinuria9.9TP53, VEGFA
38renal tubular transport disease9.9TP53, VEGFA
39familial short qt syndrome9.9TP53, VEGFA
40papillary adenocarcinoma9.9TP53, VEGFA
41seminal vesicle acute gonorrhea9.9TP53, VEGFA
42cleft lip and palate malrotation cardiopathy9.9TP53, VEGFA
43ovary epithelial cancer9.9TP53, VEGFA
44ovarian wilms' cancer9.9TP53, VEGFA
45pancreatic ductal adenocarcinoma9.9TP53, VEGFA
46liver leiomyosarcoma9.9NOD2, TP53
47lipoadenoma9.9CALCA, TP53
48scabies9.9CALCA, TP53
49crohn's disease9.9
50ulcerative colitis9.9

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

UMLS symptoms related to Sapho Syndrome:


pathergy reaction, application site pustules, pustular rash

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 14340391-99-94674
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 1381
3Bone Density Conservation AgentsPhase 12600

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, Liver, Heart, Thyroid, T cells, Pituitary

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:00053678.4MDM2, PTPN22, TP53, VEGFA
2MP:00053708.1LPIN2, MDM2, PTPN22, TP53, VEGFA
3MP:00053818.0MDM2, NOD2, PTPN22, TP53, VEGFA
4MP:00053857.7LPIN2, MDM2, PTPN22, TP53, VEGFA
5MP:00053787.4LPIN2, MDM2, NOD2, PTPN22, TP53, VEGFA
6MP:00053977.4LPIN2, MDM2, NOD2, PTPN22, TP53, VEGFA
7MP:00053877.1LPIN2, MDM2, NOD2, PTPN22, TP53, VEGFA

Publications for Sapho Syndrome

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Articles related to Sapho Syndrome:

(show top 50)    (show all 245)
idTitleAuthorsYear
1
Is the bullhead sign on bone scintigraphy really common in the patient with SAPHO syndrome? A single-center study of a 16-year experience. (26619395)
2016
2
SAPHO syndrome presenting as an osteolytic lesion of the neck. (26793990)
2016
3
SAPHO syndrome with mandibular manifestation. (26729831)
2016
4
FDG PET/CT in Early and Late Stages of SAPHO Syndrome: Two Case Reports With MRI and Bone Scintigraphy Correlation. (26359576)
2015
5
Successful treatment of a patient with SAPHO syndrome with certolizumab pegol. (25829226)
2015
6
Thrombotic manifestations in SAPHO syndrome. Review of the literature. (25441492)
2015
7
Diagnosis and treatment of SAPHO syndrome: A case report. (25009594)
2014
8
Clinical images: Refractory SAPHO syndrome involving the mandible. (24644081)
2014
9
SAPHO syndrome in an adolescent: a clinical case with unusual severe systemic impact. (24726464)
2014
10
Etanercept in the treatment of SAPHO syndrome. (25209928)
2014
11
Severe inflammation associated with synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline. (24533553)
2014
12
Current knowledge and future prospects for SAPHO syndrome. (25525636)
2014
13
The 'hidden' SAPHO syndrome. (24473422)
2014
14
A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
2013
15
A systematic review of SAPHO syndrome and inflammatory bowel disease association. (23543087)
2013
16
Case 181: synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome. (22517965)
2012
17
SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature. (20674419)
2011
18
Mucosal lesions may be a minor complication of SAPHO syndrome: a study of 11 Japanese patients with SAPHO syndrome. (19774382)
2010
19
SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. (19551383)
2010
20
Bone histomorphometric analysis of SAPHO syndrome with sternoclavicular hyperostosis. (20722030)
2010
21
Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. (20110527)
2010
22
SAPHO syndrome with TMJ involvement: review of the literature and case presentation. (20832246)
2010
23
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome complicated by seven pulmonary emboli in a 15-year old patient. (20115954)
2010
24
SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended? (19895718)
2009
25
Efficacy of alendronate in the treatment of the SAPHO syndrome. (18525442)
2008
26
SAPHO syndrome with temporomandibular joint ankylosis: clinical, radiological, histopathological, and therapeutical correlations. (18280950)
2008
27
Femoral and lower costosternal junctions' osteitis in an adult with SAPHO syndrome: An unusual presentation. (17983830)
2008
28
Chronic osteomyelitis of clavicle as primary manifestation of SAPHO syndrome in adolescents: report of four cases and long-term evolution. (17011808)
2006
29
SAPHO syndrome treated with pamidronate. (16394439)
2005
30
Successful treatment of SAPHO syndrome with leflunomide. Report of two cases. (16173265)
2005
31
Hyperostosis and osteitis in Sapho syndrome: conservative or surgical treatment. (15382585)
2004
32
FDG PET helpful for diagnosing SAPHO syndrome. (14508277)
2003
33
A case of SAPHO syndrome with pyoderma gangrenosum and inflammatory bowel disease masquerading as BehAset's disease. (12918720)
2003
34
SAPHO: syndrome or concept? Imaging findings. (12719925)
2003
35
Residents' corner. Answer to case of the month #89. Chronic recurrent multifocal osteomyelitis as a presentation of SAPHO syndrome. (12866248)
2003
36
A study of musculoskeletal manifestations in 12 patients with SAPHO syndrome. (17039195)
2002
37
SAPHO syndrome of the temporomandibular joint associated with sudden deafness. (10369364)
1999
38
SAPHO syndrome: a long-term follow-up study of 120 cases. (10622680)
1999
39
Sustained response to doxycycline therapy in two patients with SAPHO syndrome. (10211901)
1999
40
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome: a brief review of a rare condition. (9588288)
1998
41
The SAPHO syndrome: an evolving concept for unifying several idiopathic disorders of bone and skin. (9490935)
1998
42
Bone imaging in SAPHO syndrome. (9790048)
1998
43
Aseptic spondylitis as the initial manifestation of the SAPHO syndrome. (9391803)
1997
44
Renal amyloidosis and renal failure--a novel complication of the SAPHO syndrome. (9394337)
1997
45
Case report. synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. (9161184)
1996
46
Diffuse sclerosing osteomyelitis of the mandible: its characteristics and possible relationship to synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. (8859238)
1996
47
Sapho syndrome associated with acne fulminans and prominent acromioclavicular joint involvement. (8668964)
1996
48
Sapho syndrome with femoral hyperostosis. Two case-reports. (8789884)
1996
49
SAPHO syndrome. (7501856)
1995
50
SAPHO syndrome. (8453142)
1993

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular response to muramyl dipeptideGO:007122510.2NOD2, PTPN22
2positive regulation of interleukin-8 productionGO:00327579.9CALCA, NOD2
3activation of protein kinase activityGO:00321479.7CALCA, VEGFA
4regulation of heart rateGO:00020279.7CALCA, MDM2
5cellular response to hypoxiaGO:00714569.5MDM2, VEGFA
6positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.5TP53, VEGFA
7negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.4MDM2, VEGFA
8protein complex assemblyGO:00064619.2MDM2, TP53
9negative regulation of apoptotic processGO:00430668.8MDM2, TP53, VEGFA
10positive regulation of gene expressionGO:00106288.4MDM2, 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