MCID: SPH001
MIFTS: 48

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 homocystinuria and scabies, 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 breast, 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 251)
idRelated DiseaseScoreTop Affiliating Genes
1homocystinuria29.9TP53, VEGFA
2scabies29.8CALCA, TP53
3chronic recurrent multifocal osteomyelitis10.4
4breast cancer10.3
5melanoma10.3
6cervicitis10.3
7renal cell carcinoma10.2
8pancreatitis10.2
9refractive error10.2
10hypospadias-hypertelorism-coloboma and deafness syndrome10.2MDM2, VEGFA
11hiv-110.1
12obesity10.1
13leukemia10.1
14lymphoma10.1
15portal hypertension10.1
16esophagitis10.1
17endometriosis10.1
18thyroiditis10.1
19systolic heart failure10.1
20ataxia10.1
21endotheliitis10.1
22epispadias10.1
23subglottic angioma10.0MDM2, TP53
24hashimoto thyroiditis10.0CALCA, PTPN22
25spindle cell liposarcoma10.0MDM2, TP53
26herpes simplex10.0MDM2, TP53
27middle ear squamous cell carcinoma10.0MDM2, TP53
28pulmonary immaturity10.0MDM2, TP53
29ovarian endometrioid cystadenoma10.0CALCA, PTPN22
30common bile duct disease10.0MDM2, TP53
31vulva verrucous carcinoma10.0MDM2, TP53
32merrf syndrome10.0MDM2, TP53
33schwannoma of twelfth cranial nerve10.0MDM2, TP53
34sebaceous breast carcinoma10.0MDM2, TP53
35factitious disorder10.0MDM2, TP53
36breast adenomyoepithelial adenosis10.0MDM2, TP53
37liver rhabdomyosarcoma10.0MDM2, TP53
38anterior spinal artery syndrome10.0MDM2, TP53
39actinic lichen planus10.0MDM2, TP53
40adult astrocytic tumour10.0MDM2, TP53
41familial retinoblastoma10.0MDM2, TP53
42peritoneal benign neoplasm10.0MDM2, TP53
43fallopian tube leiomyosarcoma10.0TP53, VEGFA
44hypothyroidism due to deficient transcription factors involved in pituitary development or function10.0TP53, VEGFA
45schizophrenia10.0
46colorectal cancer10.0
47neural tube defects10.0
48lung cancer10.0
49van der woude syndrome10.0
50asthma10.0

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 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, Breast, Liver, Lung, Neutrophil, Heart

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 233)
idTitleAuthorsYear
1
Anti-estrogen Resistance in Human Breast Tumors Is Driven by JAG1-NOTCH4-Dependent Cancer Stem Cell Activity. (26387946)
2015
2
A Rhesus Rhadinovirus Viral Interferon (IFN) Regulatory Factor Is Virion Associated and Inhibits the Early IFN Antiviral Response. (25972548)
2015
3
Interaction of the efflux transporters ABCB1 and ABCG2 with imatinib, nilotinib, and dasatinib. (24107928)
2014
4
XPO1 (CRM1) inhibition represses STAT3 activation to drive a survivin-dependent oncogenic switch in triple negative breast cancer. (24431073)
2014
5
I+-Taxilin interacts with sorting nexin 4 and participates in the recycling pathway of transferrin receptor. (24690921)
2014
6
Side effects of hydroxyurea in patients with Thalassemia major and thalassemia intermedia and sickle cell anemia. (25254090)
2014
7
Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila. (25551675)
2014
8
PI3K is required for the physical interaction and functional inhibition of NF-I_B by I^-catenin in colorectal cancer cells. (23583404)
2013
9
Contribution of Recurrent Venous Thrombosis and Inherited Thrombophilia to the Pathogenesis of Postthrombotic Syndrome. (23892685)
2013
10
Evaluation of patients with microangiopathic hemolytic anemia and thrombocytopenia. (23390027)
2013
11
Hospital admissions for acute myocardial infarction before and after implementation of a comprehensive smoke-free policy in Uruguay: experience through 2010. (23708124)
2013
12
Rabies surveillance in the United States during 2012. (24004227)
2013
13
Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis. (23872715)
2013
14
Involvement of microRNA-93, a new regulator of PTEN/Akt signaling pathway, in regulation of chemotherapeutic drug cisplatin chemosensitivity in ovarian cancer cells. (22465665)
2012
15
Premature ejaculation and other sexual dysfunctions in opiate dependent men receiving methadone substitution treatment. (21920671)
2012
16
Isolated left ventricular noncompaction in a 90-year-old man. (22740746)
2012
17
Hyperostosis around the bilateral acetabulum associated with hypoparathyroidism. (22124546)
2012
18
DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications. (22077061)
2012
19
Novel alternatively spliced variant form of human CDK5RAP2. (21346412)
2011
20
Cell phones and landlines: the impact of gene therapy on the cost and availability of treatment for hemophilia. (21964303)
2011
21
Extracranial-intracranial bypass in atherosclerotic cerebrovascular disease: report of a single centre experience. (21501047)
2011
22
Hedgehog signaling pathway is activated in diffuse large B-cell lymphoma and contributes to tumor cell survival and proliferation. (20200556)
2010
23
Contribution of SHP-1 protein tyrosine phosphatase to osmotic regulation of the transcription factor TonEBP/OREBP. (20351292)
2010
24
Molecular mechanisms of HDL-cholesterol elevation by statins and its effects on HDL functions. (20513953)
2010
25
Indoor insect allergens are potent inducers of experimental eosinophilic esophagitis in mice. (20413729)
2010
26
Combined treatment of intravitreal bevacizumab and intravitreal triamcinolone in patients with retinal vein occlusion: 6 months of follow-up. (19898827)
2010
27
Vascular calcification and metabolic acidosis in end stage renal disease. (19918300)
2009
28
Portal vein thrombosis in the district general hospital: management and clinical outcomes. (19262399)
2009
29
Acute myopericarditis complicating acute tonsillitis: a prospective study. (19746752)
2009
30
Regulator of G protein signaling 4 confers selectivity to specific G proteins to modulate mu- and delta-opioid receptor signaling. (19324084)
2009
31
The effects of fluoride on cell migration, cell proliferation, and cell metabolism in GH4C1 pituitary tumour cells. (19619626)
2009
32
Treatment strategies for HIV lipodystrophy. (19372908)
2007
33
Chemosensitivity of unmyelinated axons in isolated human gastric vagus nerve. (17543588)
2007
34
Growth inhibition and induction of G1 phase cell cycle arrest in human lung cancer cells by a phenylbutenoid dimer isolated from Zingiber cassumunar. (17666821)
2007
35
Tyrosine phosphatase SHP-2 regulates IL-1 signaling in fibroblasts through focal adhesions. (16250012)
2006
36
Altered localization of a coactivator sensitizes breast cancer cells to tumor necrosis factor-induced apoptosis. (16505095)
2006
37
Effects of type I interferons on Friend retrovirus infection. (16537611)
2006
38
Axon behaviour at Schwann cell - astrocyte boundaries: manipulation of axon signalling pathways and the neural adhesion molecule L1 can enable axons to cross. (15355310)
2004
39
Detection of aberrant p16INK4A methylation in sera of patients with liver cirrhosis and hepatocellular carcinoma. (14966347)
2004
40
Beneficial effects of raloxifene and tamoxifen in the treatment of pubertal gynecomastia. (15238910)
2004
41
Treating nicotine addiction. (14670889)
2003
42
Six3-mediated auto repression and eye development requires its interaction with members of the Groucho-related family of co-repressors. (12050133)
2002
43
Regulation of nitric oxide production by arginine metabolic enzymes. (10973788)
2000
44
Nck-2, a novel Src homology2/3-containing adaptor protein that interacts with the LIM-only protein PINCH and components of growth factor receptor kinase-signaling pathways. (9843575)
1998
45
Binding of a diphosphotyrosine-containing peptide that mimics activated platelet-derived growth factor receptor beta induces oligomerization of phosphatidylinositol 3-kinase. (9837914)
1998
46
Aromatase expression and its localization in human breast cancer. (9365204)
1997
47
2',3'-cyclic nucleotide 3'-phosphodiesterase: a novel candidate autoantigen in demyelinating diseases. (9143234)
1997
48
Comparative inactivation of isepamicin, amikacin, and gentamicin by nine beta-lactams and two beta-lactamase inhibitors, cilastatin and heparin. (1952861)
1991
49
Proteus syndrome (report of three cases). (2357192)
1990
50
Toxic myocarditis. Report of a case arising from ingestion of liquid plastic catalyst. (13886477)
1962

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