PedAM

Pediatric Disease Annotations & Medicines


	schnitzler syndrome

Disease ID	222
Disease	schnitzler syndrome
Definition	An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate.
Synonym	schnitzler syndrome (disorder) schnitzler syndrome [disease/finding]
Orphanet	ORPHANET:37748
DOID	DOID:4371
UMLS	C0524988
MeSH	D019873
SNOMED-CT	SNOMEDCT_US_2016_09_01:402415001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0024419 \| macroglobulinemia \| 1 C0042109 \| urticaria \| 1 C0027726 \| nephrotic syndrome \| 1 C0017665 \| membranous nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) IL1RN \| 3557 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 1401 \| CRP \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 3553 \| IL1B \| DISEASES 939 \| CD27 \| DISEASES 710 \| SERPING1 \| DISEASES 3606 \| IL18 \| DISEASES 695 \| BTK \| DISEASES 285 \| ANGPT2 \| DISEASES 9235 \| IL32 \| DISEASES 64806 \| IL25 \| DISEASES 283 \| ANG \| DISEASES 114548 \| NLRP3 \| DISEASES 3932 \| LCK \| DISEASES 6288 \| SAA1 \| DISEASES 1380 \| CR2 \| DISEASES 6283 \| S100A12 \| DISEASES 959 \| CD40LG \| DISEASES 7133 \| TNFRSF1B \| DISEASES 7124 \| TNF \| DISEASES 284 \| ANGPT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	222
Disease	schnitzler syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:21) HP:0001945 \| Fever HP:0001903 \| Anemia HP:0002240 \| Hepatomegaly HP:0002665 \| Lymphoma HP:0002829 \| Arthralgia HP:0011001 \| Increased bone mineral density HP:0012733 \| Macule HP:0000989 \| Pruritus HP:0001974 \| Leukocytosis HP:0012378 \| Fatigue HP:0000988 \| Skin rash HP:0001744 \| Splenomegaly HP:0002633 \| Vasculitis HP:0200034 \| Papule HP:0002653 \| Bone pain HP:0001369 \| Arthritis HP:0003496 \| Increased IgM level HP:0009830 \| Peripheral neuropathy HP:0001025 \| Urticaria HP:0002716 \| Lymphadenopathy HP:0003326 \| Myalgia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001025 \| Hives \| 1 HP:0000100 \| Nephrosis \| 1

Disease ID	222
Disease	schnitzler syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C2186740 \| urticaria C1276118 \| recurrent urticaria C0002726 \| amyloidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0042109 \| urticaria \| 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011034	Amyloidosis	MP:0000003	abnormal adipose tissue morphology;HP:0001025	Urticaria

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0524988	thalidomide	D013792	50-35-1	schnitzler syndrome	MESH:D019873	therapeutic	16096327

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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