PedAM

Pediatric Disease Annotations & Medicines


	urticaria pigmentosa

Disease ID	1234
Disease	urticaria pigmentosa
Definition	The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules.
Synonym	cutaneous mastocytoses, maculopapular cutaneous mastocytosis, maculopapular localised cutaneous mastocytosis localized cutaneous mastocytosis localized cutaneous mastocytosis, nos maculopapular cutaneous mastocytoses maculopapular cutaneous mastocytosis pigmentosa urticaria up/mpcm urticaria pigmentosa (disorder) urticaria pigmentosa (morphologic abnormality) urticaria pigmentosa [ambiguous] urticaria pigmentosa [disease/finding] urticaria pigmentosa, nos urticaria pigmentosa/maculopapular cutaneous mastocytosis
Orphanet	ORPHANET:79457
DOID	DOID:12309
UMLS	C0042111
MeSH	D014582
SNOMED-CT	SNOMEDCT_US_2016_09_01:78745000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0221013 \| systemic mastocytosis \| 1 C0027962 \| melanocytic nevi \| 1 C1136033 \| cutaneous mastocytosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:44) 266 \| AMELY \| DISEASES 1511 \| CTSG \| DISEASES 1178 \| CLC \| DISEASES 4254 \| KITLG \| DISEASES 80306 \| MED28 \| DISEASES 2703 \| GJA8 \| DISEASES 968 \| CD68 \| DISEASES 1215 \| CMA1 \| DISEASES 5156 \| PDGFRA \| DISEASES 2208 \| FCER2 \| DISEASES 29899 \| GPSM2 \| DISEASES 5045 \| FURIN \| DISEASES 9180 \| OSMR \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 9437 \| NCR1 \| DISEASES 613 \| BCR \| DISEASES 5046 \| PCSK6 \| DISEASES 947 \| CD34 \| DISEASES 91662 \| NLRP12 \| DISEASES 6863 \| TAC1 \| DISEASES 796 \| CALCA \| DISEASES 81608 \| FIP1L1 \| DISEASES 114548 \| NLRP3 \| DISEASES 5498 \| PPOX \| DISEASES 26762 \| HAVCR1 \| DISEASES 538 \| ATP7A \| DISEASES 5336 \| PLCG2 \| DISEASES 2205 \| FCER1A \| DISEASES 6280 \| S100A9 \| DISEASES 914 \| CD2 \| DISEASES 959 \| CD40LG \| DISEASES 5236 \| PGM1 \| DISEASES 22943 \| DKK1 \| DISEASES 5212 \| VIT \| DISEASES 54790 \| TET2 \| DISEASES 3440 \| IFNA2 \| DISEASES 1394 \| CRHR1 \| DISEASES 24144 \| TFIP11 \| DISEASES 54900 \| LAX1 \| DISEASES 9788 \| MTSS1 \| DISEASES 3347 \| HTN3 \| DISEASES 488 \| ATP2A2 \| DISEASES 1506 \| CTRL \| DISEASES
Locus	(Waiting for update.)

Disease ID	1234
Disease	urticaria pigmentosa
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0200151 \| Cutaneous mastocytosis \| 1 HP:0000995 \| Beauty mark \| 1

Disease ID	1234
Disease	urticaria pigmentosa
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0221013 \| systemic mastocytosis \| 1

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

All Snps(Total Genotypes:27)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913507	20471335	3815	KIT	umls:C0042111	BeFree	High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V.	0.018739421	2010	KIT	4	54733155	A	T
rs121913507	25912132	25823	TPSG1	umls:C0042111	BeFree	Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).	0.000814326	2015	KIT	4	54733155	A	T
rs121913507	23807778	3815	KIT	umls:C0042111	BeFree	Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria).	0.018739421	2013	KIT	4	54733155	A	T
rs121913507	12393643	3815	KIT	umls:C0042111	BeFree	Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia.	0.018739421	2003	KIT	4	54733155	A	T
rs121913507	25912132	3815	KIT	umls:C0042111	BeFree	Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).	0.018739421	2015	KIT	4	54733155	A	T
rs121913507	17065430	3815	KIT	umls:C0042111	BeFree	Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.	0.018739421	2006	KIT	4	54733155	A	T
rs121913507	25912132	3669	ISG20	umls:C0042111	BeFree	Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).	0.001357209	2015	KIT	4	54733155	A	T
rs121913507	16352739	3815	KIT	umls:C0042111	BeFree	Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation.	0.018739421	2005	KIT	4	54733155	A	T
rs121913507	25912132	23430	TPSD1	umls:C0042111	BeFree	Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).	0.000814326	2015	KIT	4	54733155	A	T
rs121913507	24677542	3815	KIT	umls:C0042111	BeFree	ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should facilitate the development of novel drugs for treating SM patients.	0.018739421	2014	KIT	4	54733155	A	T
rs121913507	11493470	3815	KIT	umls:C0042111	BeFree	These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offering one explanation for increased mast cells observed in tissues of patients with mastocytosis.	0.018739421	2001	KIT	4	54733155	A	T
rs121913507	25912132	3559	IL2RA	umls:C0042111	BeFree	Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).	0.00408156	2015	KIT	4	54733155	A	T
rs121913507	22204765	3815	KIT	umls:C0042111	BeFree	The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant of c-KIT, found in the majority of patients with mastocytosis.	0.018739421	2011	KIT	4	54733155	A	T
rs121913507	24128084	3815	KIT	umls:C0042111	BeFree	Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented.	0.018739421	2013	KIT	4	54733155	A	T
rs121913507	23777495	3815	KIT	umls:C0042111	BeFree	Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.	0.018739421	2013	KIT	4	54733155	A	T
rs121913507	16183119	3815	KIT	umls:C0042111	BeFree	For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis.	0.018739421	2006	KIT	4	54733155	A	T
rs121913507	23807778	3559	IL2RA	umls:C0042111	BeFree	Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria).	0.00408156	2013	KIT	4	54733155	A	T
rs121913507	17040960	3815	KIT	umls:C0042111	BeFree	Sensitive detection of KIT D816V in patients with mastocytosis.	0.018739421	2006	KIT	4	54733155	A	T
rs121913507	24750133	3815	KIT	umls:C0042111	BeFree	The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease.	0.018739421	2014	KIT	4	54733155	A	T
rs121913507	23807778	3669	ISG20	umls:C0042111	BeFree	Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria).	0.001357209	2013	KIT	4	54733155	A	T
rs121913507	21083038	3815	KIT	umls:C0042111	BeFree	Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT mutations and other defects may be detected, the KIT mutation D816V is detectable in most (adult) patients with SM.	0.018739421	2010	KIT	4	54733155	A	T
rs121913507	19865100	3815	KIT	umls:C0042111	BeFree	Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.	0.018739421	2010	KIT	4	54733155	A	T
rs121913507	24443360	3815	KIT	umls:C0042111	BeFree	Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis.	0.018739421	2014	KIT	4	54733155	A	T
rs121913517	23777495	3815	KIT	umls:C0042111	BeFree	Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.	0.018739421	2013	KIT	4	54727444	T	A,C,G
rs121913521	23777495	3815	KIT	umls:C0042111	BeFree	Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis.	0.018739421	2013	KIT	4	54727447	T	A,G
rs3822214	18795925	3815	KIT	umls:C0042111	BeFree	Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT.	0.018739421	2008	KIT	4	54727298	A	C,G
rs3822214	25015329	3815	KIT	umls:C0042111	BeFree	The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy.	0.018739421	2015	KIT	4	54727298	A	C,G

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:0)
(Waiting for update.)

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.)