PedAM

Pediatric Disease Annotations & Medicines


	erdheim-chester disease

Disease ID	158
Disease	erdheim-chester disease
Definition	A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism.
Synonym	chester disease erdheim erdheim chester disease erdheim-chester disease (morphologic abnormality) erdheim-chester disease [disease/finding] erdheim-chester syndrome granulomatosis, lipid lipid granulomatosis lipogranulomatosis polyostotic sclerosing histiocytosis polyostotic sclerosing histiocytosis (disorder)
Orphanet	ORPHANET:35687
DOID	DOID:4329 DOID:4425
UMLS	C0878675
MeSH	D031249
SNOMED-CT	SNOMEDCT_US_2016_09_01:699537002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0031039 \| pericardial effusion \| 2 C0023449 \| acute lymphoblastic leukemia \| 1 C0024299 \| lymphoma \| 1 C0035021 \| recurrent fever \| 1 C0031046 \| pericarditis \| 1 C0023418 \| leukemia \| 1 C0178879 \| urinary tract obstruction \| 1 C0022661 \| end-stage renal failure \| 1 C0035078 \| renal failure \| 1 C0011615 \| atopic dermatitis \| 1 C0019621 \| langerhans cell histiocytosis \| 1 C0031048 \| constrictive pericarditis \| 1 C0007177 \| cardiac tamponade \| 1 C0023448 \| lymphoblastic leukemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) BRAF \| 673 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 2767 \| GNA11 \| DISEASES 6347 \| CCL2 \| DISEASES 968 \| CD68 \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 4069 \| LYZ \| DISEASES 5290 \| PIK3CA \| DISEASES 29999 \| FSCN3 \| DISEASES 123 \| PLIN2 \| DISEASES 2776 \| GNAQ \| DISEASES 673 \| BRAF \| DISEASES 6271 \| S100A1 \| DISEASES 1230 \| CCR1 \| DISEASES 4665 \| NAB2 \| DISEASES 5604 \| MAP2K1 \| DISEASES 6363 \| CCL19 \| DISEASES 3265 \| HRAS \| DISEASES 23512 \| SUZ12 \| DISEASES 2744 \| GLS \| DISEASES 23583 \| SMUG1 \| DISEASES 10507 \| SEMA4D \| DISEASES 9332 \| CD163 \| DISEASES 5294 \| PIK3CG \| DISEASES 6832 \| SUPV3L1 \| DISEASES 4893 \| NRAS \| DISEASES 367 \| AR \| DISEASES 369 \| ARAF \| DISEASES 6624 \| FSCN1 \| DISEASES 12 \| SERPINA3 \| DISEASES 5609 \| MAP2K7 \| DISEASES 50489 \| CD207 \| DISEASES 27 \| ABL2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	158
Disease	erdheim-chester disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:41) HP:0012735 \| Cough HP:0010885 \| Aseptic necrosis HP:0001635 \| Congestive heart failure HP:0001317 \| Abnormality of the cerebellum HP:0001824 \| Weight loss HP:0000988 \| Skin rash HP:0002797 \| Osteolysis HP:0003335 \| Low gonadotropins (secondary hypogonadism) HP:0002202 \| Pleural effusion HP:0001114 \| Xanthelasma HP:0006530 \| Interstitial pulmonary disease HP:0005930 \| Abnormality of epiphysis morphology HP:0001945 \| Fever HP:0000126 \| Hydronephrosis HP:0001251 \| Ataxia HP:0000520 \| Proptosis HP:0001386 \| Joint swelling HP:0002206 \| Pulmonary fibrosis HP:0000873 \| Diabetes insipidus HP:0010978 \| Abnormality of immune system physiology HP:0000083 \| Renal insufficiency HP:0001697 \| Abnormality of the pericardium HP:0000508 \| Ptosis HP:0001260 \| Dysarthria HP:0002094 \| Dyspnea HP:0000505 \| Visual impairment HP:0012378 \| Fatigue HP:0000975 \| Hyperhidrosis HP:0002017 \| Nausea and vomiting HP:0001347 \| Hyperreflexia HP:0000639 \| Nystagmus HP:0001903 \| Anemia HP:0005200 \| Retroperitoneal fibrosis HP:0001646 \| Abnormality of the aortic valve HP:0011001 \| Increased bone mineral density HP:0002653 \| Bone pain HP:0000944 \| Abnormality of the metaphyses HP:0002027 \| Abdominal pain HP:0100518 \| Dysuria HP:0001959 \| Polydipsia HP:0002754 \| Osteomyelitis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0100561 \| Spinal cord lesion \| 2 HP:0001698 \| Pericardial effusions \| 2 HP:0001945 \| Fever \| 1 HP:0012377 \| Hemianopia \| 1 HP:0030516 \| Homonymous hemianopia \| 1 HP:0005200 \| Retroperitoneal fibrosis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0001701 \| Pericarditis \| 1 HP:0001909 \| Leukemia \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002563 \| Constrictive pericarditis \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002665 \| Lymphoma \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1

Disease ID	158
Disease	erdheim-chester disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C2632116 \| stenosis C1366535 \| diabetes insipidus C0752303 \| urological manifestations C0748168 \| pulmonary pathology C0748159 \| pulmonary involvement C0677866 \| brainstem tumor C0521622 \| bilateral hydronephrosis C0271623 \| secondary hypogonadism C0267788 \| retroperitoneal xanthogranuloma C0206062 \| interstitial lung disease C0037285 \| skin manifestations C0018809 \| cardiac tumor C0002382 \| alveolar bone loss
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0018809 \| cardiac tumor \| 1 C0752303 \| urological manifestations \| 1

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25324352	5894	RAF1	umls:C0878675	BeFree	Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors.	0.000542884	2015	BRAF	7	140753336	A	T,G,C
rs113488022	24857137	673	BRAF	umls:C0878675	BeFree	Anecdotal responses have been reported in a few patients with LCH and Erdheim-Chester Disease to vemurafenib, a BRAF V600E inhibitor.	0.002985861	2015	BRAF	7	140753336	A	T,G,C
rs113488022	24531980	673	BRAF	umls:C0878675	BeFree	Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation.	0.002985861	2014	BRAF	7	140753336	A	T,G,C
rs113488022	22879539	673	BRAF	umls:C0878675	BeFree	High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.	0.002985861	2012	BRAF	7	140753336	A	T,G,C
rs113488022	25324352	673	BRAF	umls:C0878675	BeFree	These results indicate that cfDNA BRAF(V600E) mutational analysis in plasma and urine provides a convenient and reliable method of detecting mutational status and can serve as a noninvasive biomarker to monitor response to therapy in LCH and ECD.	0.002985861	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25324352	22882	ZHX2	umls:C0878675	BeFree	Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors.	0.000542884	2015	BRAF	7	140753336	A	T,G,C
rs113488022	24894769	673	BRAF	umls:C0878675	BeFree	Our findings indicate that the association of LCH and ECD is not fortuitous and suggest a link between these diseases involving the BRAF(V600E) mutation.	0.002985861	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25735579	673	BRAF	umls:C0878675	BeFree	Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder.	0.002985861	2014	BRAF	7	140753336	A	T,G,C
rs113488022	25422482	673	BRAF	umls:C0878675	BeFree	Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease.	0.002985861	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25003820	673	BRAF	umls:C0878675	BeFree	BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease.	0.002985861	2015	BRAF	7	140753336	A	T,G,C
rs121913530	25324352	3845	KRAS	umls:C0878675	BeFree	There was 100% concordance between tissue and urinary cfDNA genotype in treatment-naïve samples. cfDNA analysis facilitated identification of previously undescribed KRAS(G12S)-mutant ECD and dynamically tracked disease burden in patients treated with a variety of therapies.	0.000271442	2015	KRAS	12	25245351	C	T,G,A

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:0002206	Pulmonary fibrosis	MP:0003141	cardiac fibrosis;HP:0001646	Abnormality of the aortic valve

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000505	Visual impairment	MP:0011250	abdominal situs ambiguus;HP:0000508	Ptosis

Chemical(Total Drugs:0)
(Waiting for update.)

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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