Details of Disease

General Information of Disease (ID: DISLBZEF)

• Disease Name: Cutaneous mastocytosis
• Synonyms: CMCD; cutaneous mastocytosis (disease); CM; cutaneous mastocytosis; mastocytosis, cutaneous; cutaneous (skin) mastocytosis; mastocytosis, systemic, somatic
• Definition: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.
• Disease Hierarchy:
  DIS1TEE0: Mastocytosis
  DIS9WQAI: Urticaria
  DISH4B3H: Dermis tumor
  DISSCALK: Hereditary skin disorder
  DISLBZEF: Cutaneous mastocytosis
• Disease Identifiers:
  MONDO ID: MONDO_0019023
  MESH ID: D034701
  UMLS CUI: C1136033
  OMIM ID: 154800
  MedGen ID: 210143
  HPO ID: HP:0200151
  Orphanet ID: 66646
  SNOMED CT ID: 397012002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIT	TTX41N9	Strong	Autosomal dominant	[1]
KIT	TTX41N9	Strong	Genetic Variation	[2]
KITLG	TTDJ51N	Strong	Genetic Variation	[3]

This Disease Is Related to 25 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARFGEF1	OTPAU0L4	Limited	Biomarker	[4]
ARID2	OTIRJXWM	Limited	Biomarker	[4]
CCS	OTXHT3QO	Limited	Biomarker	[5]
ELOA	OTOQTF5K	Limited	Biomarker	[6]
ELOB	OTZ3X84T	Limited	Biomarker	[6]
ELOC	OT0XHHWP	Limited	Biomarker	[6]
ENOSF1	OT65D3ZK	Limited	Biomarker	[7]
FAM167A	OT9JF3JQ	Limited	Genetic Variation	[8]
GNB1	OTLL7L74	Limited	Genetic Variation	[9]
HTRA3	OTXJ0H4X	Limited	Altered Expression	[10]
HTRA4	OT58M21J	Limited	Altered Expression	[10]
LAD1	OT6YGTVX	Limited	Biomarker	[11]
PLCL1	OTJL2C79	Limited	Biomarker	[12]
RECQL4	OT59LSW7	Limited	Biomarker	[7]
SKP1	OT5BPAZ4	Limited	Biomarker	[6]
SPDYA	OTYKC1AJ	Limited	Biomarker	[13]
TCEA1	OTBFO594	Limited	Biomarker	[6]
CXCL6	OTFTCQ4O	Strong	Biomarker	[14]
EIF3H	OT61RBF5	Strong	Altered Expression	[15]
GOLGA4	OTCMEHNJ	Strong	Biomarker	[14]
IL3	OT0CQ35N	Strong	Genetic Variation	[3]
KIT	OTHUY3VZ	Strong	Autosomal dominant	[1]
MSC	OTBRPZL5	Strong	Biomarker	[16]
TFDP1	OT6RZ7VT	Strong	Altered Expression	[17]
TNFAIP6	OT1SLUZH	Strong	Genetic Variation	[18]

References

• [1] Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. Exp Hematol. 2011 Aug;39(8):859-65.e2. doi: 10.1016/j.exphem.2011.05.009. Epub 2011 May 27.
• [2] Pediatric cutaneous mastocytosis and c-KIT mutation screening.Allergy Asthma Proc. 2019 Mar 1;40(2):123-128. doi: 10.2500/aap.2019.40.4201.
• [3] Mast cell disorders: From infancy to maturity.Allergy. 2019 Jan;74(1):53-63. doi: 10.1111/all.13657. Epub 2018 Nov 28.
• [4] Electrophysiological evidence of language switching for bidialectals: an event-related potential study.Neuroreport. 2018 Feb 7;29(3):181-190. doi: 10.1097/WNR.0000000000000950.
• [5] Wnt1a maintains characteristics of dermal papilla cells that induce mouse hair regeneration in a 3D preculture system.J Tissue Eng Regen Med. 2017 May;11(5):1479-1489. doi: 10.1002/term.2046. Epub 2015 Jun 29.
• [6] Radiofrequency ablation versus laparoscopic hepatectomy for hepatocellular carcinoma: A real world single center study.Eur J Surg Oncol. 2020 Apr;46(4 Pt A):548-559. doi: 10.1016/j.ejso.2019.10.026. Epub 2019 Oct 24.
• [7] Safety profile of the RTS,S/AS01 malaria vaccine in infants and children: additional data from a phase III randomized controlled trial in sub-Saharan Africa.Hum Vaccin Immunother. 2019;15(10):2386-2398. doi: 10.1080/21645515.2019.1586040. Epub 2019 Apr 23.
• [8] Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23.Diabetes. 2004 May;53(5):1375-84. doi: 10.2337/diabetes.53.5.1375.
• [9] Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.Eur J Med Genet. 2018 Mar;61(3):157-160. doi: 10.1016/j.ejmg.2017.11.010. Epub 2017 Nov 23.
• [10] Immune response against HtrA proteases in children with cutaneous mastocytosis.Acta Biochim Pol. 2018;65(3):471-478. doi: 10.18388/abp.2018_2623. Epub 2018 Aug 27.
• [11] Transplantation of purified iPSC-derived cardiomyocytes in myocardial infarction.PLoS One. 2017 May 11;12(5):e0173222. doi: 10.1371/journal.pone.0173222. eCollection 2017.
• [12] Novel Platform of Cardiomyocyte Culture and Coculture via Fibroblast-Derived Matrix-Coupled Aligned Electrospun Nanofiber.ACS Appl Mater Interfaces. 2017 Jan 11;9(1):224-235. doi: 10.1021/acsami.6b14020. Epub 2016 Dec 20.
• [13] Chemotherapy response and recurrence-free survival in neoadjuvant breast cancer depends on biomarker profiles: results from the I-SPY 1 TRIAL (CALGB 150007/150012; ACRIN 6657).Breast Cancer Res Treat. 2012 Apr;132(3):1049-62. doi: 10.1007/s10549-011-1895-2. Epub 2011 Dec 25.
• [14] Mesenchymal stem cells overexpressing GCP-2 improve heart function through enhanced angiogenic properties in a myocardial infarction model.Cardiovasc Res. 2012 Sep 1;95(4):495-506. doi: 10.1093/cvr/cvs224. Epub 2012 Aug 10.
• [15] PTK2 and EIF3S3 genes may be amplification targets at 8q23-q24 and are associated with large hepatocellular carcinomas.Hepatology. 2003 Nov;38(5):1242-9. doi: 10.1053/jhep.2003.50457.
• [16] Human amnion-derived mesenchymal stem cell (hAD-MSC) transplantation improves ovarian function in rats with premature ovarian insufficiency (POI) at least partly through a paracrine mechanism.Stem Cell Res Ther. 2019 Jan 25;10(1):46. doi: 10.1186/s13287-019-1136-x.
• [17] Association of over-expressed TFDP1 with progression of hepatocellular carcinomas. J Hum Genet. 2003;48(12):609-613.
• [18] Tumor necrosis factor-inducible gene 6 promotes liver regeneration in mice with acute liver injury.Stem Cell Res Ther. 2015 Mar 11;6(1):20. doi: 10.1186/s13287-015-0019-z.