Details of Disease

General Information of Disease (ID: DIS1TEE0)

• Disease Name: Mastocytosis
• Synonyms: urticaria pigmentosa; MAST cell disease; Mast cell disease; mastocytosis; mast cell hyperplasia
• Definition: A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS6NFMB: Mast cell neoplasm
  DIS17G9I: Leukocyte disorder
  DIS1TEE0: Mastocytosis
• Disease Identifiers:
  MONDO ID: MONDO_0007950
  MESH ID: D008415
  UMLS CUI: C0024899
  MedGen ID: 9902
  HPO ID: HP:0100495
  Orphanet ID: 98292
  SNOMED CT ID: 127581004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL9	TT0JTFD	Limited	Biomarker	[1]
TNFRSF8	TT2GM5R	Limited	Biomarker	[2]
IL31	TT1RJXK	moderate	Biomarker	[3]
TPSAB1	TTM1TDX	moderate	Genetic Variation	[4]
TPSD1	TTNWD8O	moderate	Genetic Variation	[5]
ABL2	TT1A6HL	Strong	Biomarker	[6]
ENPP3	TTD4TKP	Strong	Altered Expression	[7]
KIT	TTX41N9	Strong	Autosomal dominant	[8]
NTRK1	TTTDVOJ	Strong	Genetic Variation	[9]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CPA4	DEXKD7J	Strong	Biomarker	[10]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ISG20	OTCWRJJW	Limited	Altered Expression	[11]
STAT5A	OTBSJGN3	Limited	Biomarker	[12]
STAT5B	OTZVPEBT	Limited	Biomarker	[12]
FIP1L1	OTF91GTL	moderate	Biomarker	[13]
KIR2DL4	OTXN18OA	moderate	Biomarker	[14]
ASXL1	OTX931AW	Strong	Genetic Variation	[15]
CCL26	OT2B7HR9	Strong	Altered Expression	[16]
CD72	OTPOJID2	Strong	Biomarker	[17]
CPA3	OTOK8M0V	Strong	Biomarker	[10]
FOXF1	OT2CJZ5K	Strong	Biomarker	[18]
HBM	OT8WB3RL	Strong	Biomarker	[19]
KIT	OTHUY3VZ	Strong	Autosomal dominant	[8]
RASGRP4	OT15PWN4	Strong	Genetic Variation	[20]
RERE	OT3G4GBZ	Strong	Biomarker	[6]
SLAMF8	OTATVST8	Strong	Altered Expression	[21]
SRSF2	OTVDHO6U	Strong	Genetic Variation	[22]
TET2	OTKKT03T	Strong	Genetic Variation	[22]
TNFSF8	OTDYGDJ3	Strong	Altered Expression	[23]
TPSB2	OTN769MT	Strong	Genetic Variation	[24]

References

• [1] IL-9-producing cells in the development of IgE-mediated food allergy.Semin Immunopathol. 2017 Jan;39(1):69-77. doi: 10.1007/s00281-016-0605-x. Epub 2016 Dec 1.
• [2] Immunophenotype of pediatric-onset mastocytosis does not correlate with clinical course.Pediatr Dermatol. 2019 Jul;36(4):477-481. doi: 10.1111/pde.13850. Epub 2019 May 23.
• [3] Interleukin 33 and interleukin 4 regulate interleukin 31 gene expression and secretion from human laboratory of allergic diseases 2 mast cells stimulated by substance P and/or immunoglobulin E.Allergy Asthma Proc. 2018 Mar 1;39(2):153-160. doi: 10.2500/aap.2018.38.4105.
• [4] Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome.Int Arch Allergy Immunol. 2019;180(1):44-51. doi: 10.1159/000501079. Epub 2019 Jun 28.
• [5] Mast cell infiltrates in vulvodynia represent secondary and idiopathic mast cell hyperplasias.APMIS. 2015 May;123(5):452-6. doi: 10.1111/apm.12372.
• [6] Constitutively active ABL family kinases, TEL/ABL and TEL/ARG, harbor distinct leukemogenic activities in vivo.Leukemia. 2017 Dec;31(12):2742-2751. doi: 10.1038/leu.2017.114. Epub 2017 Apr 7.
• [7] Basophil activation test in the diagnosis and monitoring of mastocytosis patients with wasp venom allergy on immunotherapy.Cytometry B Clin Cytom. 2014 May;86(3):183-90. doi: 10.1002/cyto.b.21148. Epub 2014 Jan 29.
• [8] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [9] A familial germline mutation in KIT associated with achalasia, mastocytosis and gastrointestinal stromal tumors shows response to kinase inhibitors.Cancer Genet. 2019 Apr;233-234:1-6. doi: 10.1016/j.cancergen.2019.02.001. Epub 2019 Feb 27.
• [10] Involvement of mast cells in eosinophilic esophagitis.J Allergy Clin Immunol. 2010 Jul;126(1):140-9. doi: 10.1016/j.jaci.2010.04.009. Epub 2010 Jun 9.
• [11] Does the aberrant expression of CD2 and CD25 by skin mast cells truly correlate with systemic involvement in patients presenting with mastocytosis in the skin?.Int Arch Allergy Immunol. 2014;165(2):104-10. doi: 10.1159/000368799. Epub 2014 Nov 15.
• [12] CD44 is a RAS/STAT5-regulated invasion receptor that triggers disease expansion in advanced mastocytosis.Blood. 2018 Nov 1;132(18):1936-1950. doi: 10.1182/blood-2018-02-833582. Epub 2018 Jul 17.
• [13] A comprehensive review of imatinib mesylate (Gleevec) for dermatological diseases.J Drugs Dermatol. 2006 Feb;5(2):117-22.
• [14] Killer cell immunoglobulin-like receptor 2DL4 is expressed in and suppresses the cell growth of Langerhans cell histiocytosis.Oncotarget. 2017 Jun 6;8(23):36964-36972. doi: 10.18632/oncotarget.16936.
• [15] Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.PLoS One. 2012;7(8):e43090. doi: 10.1371/journal.pone.0043090. Epub 2012 Aug 15.
• [16] Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis.J Clin Invest. 2006 Feb;116(2):536-47. doi: 10.1172/JCI26679.
• [17] CD72 negatively regulates KIT-mediated responses in human mast cells.J Immunol. 2010 Mar 1;184(5):2468-75. doi: 10.4049/jimmunol.0902450. Epub 2010 Jan 25.
• [18] Pulmonary mastocytosis and enhanced lung inflammation in mice heterozygous null for the Foxf1 gene.Am J Respir Cell Mol Biol. 2008 Oct;39(4):390-9. doi: 10.1165/rcmb.2008-0044OC. Epub 2008 Apr 17.
• [19] Conditioned media from a cell strain derived from a patient with mastocytosis induces preferential development of cells that possess high affinity IgE receptors and the granule protease phenotype of mature cutaneous mast cells.J Biol Chem. 1995 Feb 3;270(5):2258-63. doi: 10.1074/jbc.270.5.2258.
• [20] RasGRP4, a new mast cell-restricted Ras guanine nucleotide-releasing protein with calcium- and diacylglycerol-binding motifs. Identification of defective variants of this signaling protein in asthma, mastocytosis, and mast cell leukemia patients and demonstration of the importance of RasGRP4 in mast cell development and function.J Biol Chem. 2002 Jul 12;277(28):25756-74. doi: 10.1074/jbc.M202575200. Epub 2002 Apr 15.
• [21] SLAM family member 8 is involved in oncogenic KIT-mediated signalling in human mastocytosis.Exp Dermatol. 2018 Jun;27(6):641-646. doi: 10.1111/exd.13523.
• [22] Mutational Hotspot of TET2, IDH1, IDH2, SRSF2, SF3B1, KRAS, and NRAS from Human Systemic Mastocytosis Are Not Conserved in Canine Mast Cell Tumors.PLoS One. 2015 Nov 12;10(11):e0142450. doi: 10.1371/journal.pone.0142450. eCollection 2015.
• [23] CD30 in systemic mastocytosis.Immunol Allergy Clin North Am. 2014 May;34(2):341-55. doi: 10.1016/j.iac.2014.01.006. Epub 2014 Mar 13.
• [24] Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels.Clin Immunol. 2007 Jun;123(3):268-71. doi: 10.1016/j.clim.2007.02.007. Epub 2007 Apr 20.