PedAM

Pediatric Disease Annotations & Medicines


	sapho syndrome

Disease ID	143
Disease	sapho syndrome
Definition	Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
Synonym	acquired hyperostosis syndrome acquired hyperostosis syndrome [disease/finding] acquired hyperostosis syndromes hyperostosis syndrome, acquired hyperostosis syndromes, acquired pphs pustulo-psoriatic hyperostotic spondyloarthritis sapho - synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome sapho syndromes syndrome, acquired hyperostosis syndrome, sapho syndromes, acquired hyperostosis syndromes, sapho synovitis acne pustulosis hyperostosis osteomyelitis syndrome synovitis acne pustulosis hyperostosis osteomyelitis syndrome (disorder) synovitis, acne, pustlosis, hyperostosis, and osteomyelitis synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome (disorder) synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome
Orphanet	ORPHANET:793
DOID	DOID:13677
UMLS	C0263859
MeSH	D020083
SNOMED-CT	SNOMEDCT_US_2016_09_01:60684003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0029443 \| osteomyelitis \| 3 C0033860 \| psoriasis \| 1 C0035078 \| renal failure \| 1 C0020295 \| hydronephrosis \| 1 C0162836 \| hidradenitis suppurativa \| 1 C0003090 \| ankylosis \| 1 C0037933 \| spinal disorder \| 1 C0085160 \| hidradenitis \| 1 C0012624 \| spondylodiscitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 9663 \| LPIN2 \| infer 64127 \| NOD2 \| infer 9050 \| PSTPIP2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 55907 \| CMAS \| DISEASES 2703 \| GJA8 \| DISEASES 6431 \| SRSF6 \| DISEASES 1401 \| CRP \| DISEASES 3557 \| IL1RN \| DISEASES 26525 \| IL36RN \| DISEASES 9663 \| LPIN2 \| DISEASES 3553 \| IL1B \| DISEASES 3299 \| HSF4 \| DISEASES 2247 \| FGF2 \| DISEASES 1950 \| EGF \| DISEASES 54901 \| CDKAL1 \| DISEASES 3606 \| IL18 \| DISEASES 326 \| AIRE \| DISEASES 115825 \| WDFY2 \| DISEASES 120892 \| LRRK2 \| DISEASES 64127 \| NOD2 \| DISEASES 1469 \| CST1 \| DISEASES 56246 \| MRAP \| DISEASES 10938 \| EHD1 \| DISEASES 23046 \| KIF21B \| DISEASES 2246 \| FGF1 \| DISEASES 23583 \| SMUG1 \| DISEASES 6283 \| S100A12 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 5251 \| PHEX \| DISEASES 55576 \| STAB2 \| DISEASES 4689 \| NCF4 \| DISEASES 9050 \| PSTPIP2 \| DISEASES 197 \| AHSG \| DISEASES 283463 \| MUC19 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 6452 \| SH3BP2 \| DISEASES 3347 \| HTN3 \| DISEASES 11331 \| PHB2 \| DISEASES 5027 \| P2RX7 \| DISEASES 9051 \| PSTPIP1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	143
Disease	sapho syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:30) HP:0002037 \| Inflammation of the large intestine HP:0002829 \| Arthralgia HP:0100847 \| Palmoplantar pustulosis HP:0000988 \| Skin rash HP:0002797 \| Osteolysis HP:0002570 \| Steatorrhea HP:0200039 \| Pustule HP:0004936 \| Venous thrombosis HP:0000969 \| Edema HP:0100769 \| Synovitis HP:0100774 \| Hyperostosis HP:0001581 \| Recurrent skin infections HP:0000925 \| Abnormality of the vertebral column HP:0100749 \| Chest pain HP:0100686 \| Enthesitis HP:0002633 \| Vasculitis HP:0001061 \| Acne HP:0001369 \| Arthritis HP:0002024 \| Malabsorption HP:0005464 \| Craniofacial osteosclerosis HP:0100781 \| Abnormality of the sacroiliac joint HP:0003765 \| Psoriasis HP:0006824 \| Cranial nerve paralysis HP:0002757 \| Recurrent fractures HP:0000765 \| Abnormality of the thorax HP:0002028 \| Chronic diarrhea HP:0002653 \| Bone pain HP:0010622 \| Neoplasm of the skeletal system HP:0002027 \| Abdominal pain HP:0002754 \| Osteomyelitis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0002754 \| Bone infection \| 3 HP:0001061 \| Acne \| 2 HP:0003765 \| Psoriasis \| 1 HP:0040154 \| Hidradenitis suppurativa \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002315 \| Headaches \| 1 HP:0012531 \| Pain \| 1 HP:0000126 \| Hydronephrosis \| 1

Disease ID	143
Disease	sapho syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C2697383 \| osteosarcoma C1290708 \| mandibular osteomyelitis C1142272 \| neutrophilic dermatosis C0517555 \| venous thrombosis C0038012 \| spondylitis C0031111 \| periostitis C0029443 \| osteomyelitis C0029400 \| osteitis C0012624 \| spondylodiscitis C0008707 \| chronic osteomyelitis C0001418 \| adenocarcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0029443 \| osteomyelitis \| 3 C0012624 \| spondylodiscitis \| 1 C0029400 \| osteitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002757	Recurrent fractures	MP:0004675	rib fractures;HP:0002037	Inflammation of the large intestine

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003765	Psoriasis	MP:0003410	abnormal artery development;HP:0001369	Arthritis

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0263859	zoledronic acid	C088658	-	acquired hyperostosis syndrome	MESH:D020083	therapeutic	18266863

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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