PedAM

Pediatric Disease Annotations & Medicines


	indolent systemic mastocytosis

Disease ID	342
Disease	indolent systemic mastocytosis
Definition	A form of systemic mastocytosis in which patients experience no pain. It is characterized by the multifocal mast cell filtrates, mostly in skin and bone marrow (<20% MAST CELLS). It has a low cytomorphological grade.
Synonym	indolent systemic mastocytoses indolent systemic mastocytosis (disorder) indolent systemic mastocytosis (morphologic abnormality) ism mastocytoses, indolent systemic mastocytosis, indolent systemic systemic mastocytoses, indolent systemic mastocytosis, indolent
Orphanet	ORPHANET:98848
OMIM	OMIM:615793
DOID	DOID:4660
UMLS	C0272203
SNOMED-CT	SNOMEDCT_US_2016_09_01:70910003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0029456 \| osteoporosis \| 1 C0029464 \| osteosclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ISM1 \| 140862 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:42) 928 \| CD9 \| DISEASES 266 \| AMELY \| DISEASES 4353 \| MPO \| DISEASES 4254 \| KITLG \| DISEASES 968 \| CD68 \| DISEASES 6320 \| CLEC11A \| DISEASES 1215 \| CMA1 \| DISEASES 5156 \| PDGFRA \| DISEASES 967 \| CD63 \| DISEASES 9618 \| TRAF4 \| DISEASES 943 \| TNFRSF8 \| DISEASES 3067 \| HDC \| DISEASES 710 \| SERPING1 \| DISEASES 3815 \| KIT \| DISEASES 22808 \| MRAS \| DISEASES 729230 \| CCR2 \| DISEASES 6368 \| CCL23 \| DISEASES 7412 \| VCAM1 \| DISEASES 4597 \| MVD \| DISEASES 50964 \| SOST \| DISEASES 3479 \| IGF1 \| DISEASES 27087 \| B3GAT1 \| DISEASES 7172 \| TPMT \| DISEASES 923 \| CD6 \| DISEASES 81608 \| FIP1L1 \| DISEASES 538 \| ATP7A \| DISEASES 728 \| C5AR1 \| DISEASES 23644 \| EDC4 \| DISEASES 6427 \| SRSF2 \| DISEASES 6693 \| SPN \| DISEASES 914 \| CD2 \| DISEASES 6319 \| SCD \| DISEASES 8813 \| DPM1 \| DISEASES 22943 \| DKK1 \| DISEASES 171023 \| ASXL1 \| DISEASES 5212 \| VIT \| DISEASES 54790 \| TET2 \| DISEASES 1438 \| CSF2RA \| DISEASES 2668 \| GDNF \| DISEASES 4067 \| LYN \| DISEASES 9788 \| MTSS1 \| DISEASES 101927624 \| LINC01150 \| DISEASES
Locus	(Waiting for update.)

Disease ID	342
Disease	indolent systemic mastocytosis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0001000 \| Abnormality of skin pigmentation HP:0001645 \| Sudden cardiac death HP:0000989 \| Pruritus HP:0004349 \| Reduced bone mineral density HP:0010829 \| Impaired temperature sensation HP:0002315 \| Headache HP:0000708 \| Behavioral abnormality HP:0002014 \| Diarrhea HP:0100495 \| Mastocytosis HP:0002017 \| Nausea and vomiting HP:0002027 \| Abdominal pain HP:0001025 \| Urticaria HP:0004295 \| Abnormality of the gastric mucosa
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000938 \| Decreased bone mineral density \| 2 HP:0000939 \| Osteoporosis \| 1 HP:0011001 \| Increased bone mineral density \| 1

Disease ID	342
Disease	indolent systemic mastocytosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913507	23621866	3815	KIT	umls:C0272203	BeFree	Serum tryptase correlates with the KIT D816V mutation burden in adults with indolent systemic mastocytosis.	0.001628651	2013	KIT	4	54733155	A	T
rs121913507	23587333	3815	KIT	umls:C0272203	BeFree	KIT D816V mutation burden does not correlate to clinical manifestations of indolent systemic mastocytosis.	0.001628651	2013	KIT	4	54733155	A	T
rs121913507	18390729	3815	KIT	umls:C0272203	BeFree	Based on all these results, it is hypothesized that KIT D816V as a single hit may be sufficient to cause indolent systemic mastocytosis, whereas additional defects may be required to induce aggressive mast cell disorders.	0.001628651	2008	KIT	4	54733155	A	T
rs121913507	22469616	3815	KIT	umls:C0272203	BeFree	Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis.	0.001628651	2012	KIT	4	54733155	A	T
rs121913507	25582384	3815	KIT	umls:C0272203	BeFree	The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis.	0.001628651	2014	KIT	4	54733155	A	T

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:0001645	Sudden cardiac death	MP:0003393	decreased cardiac output;HP:0010829	Impaired temperature sensation

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002027	Abdominal pain	MP:0010465	aberrant origin of the right subclavian artery;HP:0001645	Sudden cardiac death

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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