Details of Disease

General Information of Disease (ID: DIS0I87H)

• Disease Name: Hamartoma
• Synonyms: hamartoma (disease); hamartoma
• Definition: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.
• Disease Hierarchy:
  DISTBY9Z: Tumour
  DIS0I87H: Hamartoma
• Disease Identifiers:
  MONDO ID: MONDO_0006499
  MESH ID: D006222
  UMLS CUI: C0018552
  MedGen ID: 6713
  HPO ID: HP:0010566
  SNOMED CT ID: 400006008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Dactinomycin	DM2YGNW	Approved	Small molecular drug	[1]
Doxorubicin	DMVP5YE	Approved	Small molecular drug	[2]
Etoposide	DMNH3PG	Approved	Small molecular drug	[3]
Vincristine	DMINOX3	Approved	Small molecular drug	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TEP1	TTQGAVX	Limited	Genetic Variation	[5]
CLCN7	TTST1AJ	Strong	Genetic Variation	[6]
HMGA2	TTSTVM0	Strong	Biomarker	[7]
PGRMC1	TTY3LAZ	Strong	Biomarker	[8]
SLC12A3	TTP362L	Strong	Altered Expression	[9]
SMO	TT8J1S3	Strong	Genetic Variation	[10]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A2	DTW78DQ	Strong	Genetic Variation	[11]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP1A1	DE6OQ3W	Strong	Altered Expression	[12]

This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLCN	OTVM78XM	Limited	Biomarker	[13]
RAD51B	OTCJVRMY	Limited	Biomarker	[14]
AKT1S1	OT4JHN4Y	Strong	Biomarker	[15]
CDX2	OTCG4TSY	Strong	Biomarker	[16]
GLI3	OTKDOE94	Strong	Genetic Variation	[17]
LAMA4	OTHI7TA0	Strong	Genetic Variation	[18]
LHFPL6	OTY6LHJY	Strong	Altered Expression	[19]
LPP	OT6TU8SE	Strong	Altered Expression	[20]
MOGS	OT99MBGB	Strong	Genetic Variation	[11]
OSTM1	OTKNJDH7	Strong	Genetic Variation	[6]
PRRX1	OTTZK5G8	Strong	Biomarker	[21]
RPE	OT0XT3JU	Strong	Genetic Variation	[22]
STK11	OT1YZSP3	Strong	Altered Expression	[23]
SUFU	OT0IRYG1	Strong	Biomarker	[24]
TESC	OTI8C76M	Strong	Altered Expression	[9]
TSC1	OTFF4YZ7	Strong	Genetic Variation	[25]
TSC2	OT47LWI9	Strong	Genetic Variation	[26]

References

• [1] Dactinomycin FDA Label
• [2] Doxorubicin FDA Label
• [3] Etoposide FDA Label
• [4] Vincristine FDA Label
• [5] Silencing of the PTEN tumor-suppressor gene in anaplastic thyroid cancer.Genes Chromosomes Cancer. 2002 Sep;35(1):74-80. doi: 10.1002/gcc.10098.
• [6] A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.Dis Model Mech. 2014 Jan;7(1):119-28. doi: 10.1242/dmm.012500. Epub 2013 Oct 23.
• [7] Identification of the benign mesenchymal tumor gene HMGA2 in lymphangiomyomatosis.Cancer Res. 2007 Mar 1;67(5):1902-9. doi: 10.1158/0008-5472.CAN-06-1122.
• [8] Diagnostic value of using multiplanar reformation images: Case report for rare endotracheal hamartomas.Medicine (Baltimore). 2017 Oct;96(40):e8231. doi: 10.1097/MD.0000000000008231.
• [9] Loss of heterozygosity on tuberous sclerosis complex genes in multifocal micronodular pneumocyte hyperplasia.Mod Pathol. 2010 Sep;23(9):1251-60. doi: 10.1038/modpathol.2010.114. Epub 2010 Jun 4.
• [10] Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.Am J Med Genet A. 2017 Jun;173(6):1586-1592. doi: 10.1002/ajmg.a.38232. Epub 2017 Apr 6.
• [11] A hamartoma of the breast with an aberration of 12q mapped to the MAR region by fluorescence in situ hybridization.Cancer Genet Cytogenet. 1995 Oct 1;84(1):82-4. doi: 10.1016/0165-4608(95)00060-7.
• [12] The cutaneous lesions of dioxin exposure: lessons from the poisoning of Victor Yushchenko. Toxicol Sci. 2012 Jan;125(1):310-7.
• [13] Tumor Suppressor Folliculin Regulates mTORC1 through Primary Cilia.J Biol Chem. 2016 May 27;291(22):11689-97. doi: 10.1074/jbc.M116.719997. Epub 2016 Apr 12.
• [14] Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3).Genes Chromosomes Cancer. 2005 Oct;44(2):154-60. doi: 10.1002/gcc.20225.
• [15] Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40.Nat Cell Biol. 2007 Mar;9(3):316-23. doi: 10.1038/ncb1547. Epub 2007 Feb 4.
• [16] Epigenetic silencing of CDX2 is a feature of squamous esophageal cancer.Int J Cancer. 2007 Sep 15;121(6):1219-26. doi: 10.1002/ijc.22828.
• [17] Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.Am J Med Genet A. 2009 Jun;149A(6):1108-15. doi: 10.1002/ajmg.a.32859.
• [18] HMGI(Y) activation by chromosome 6p21 rearrangements in multilineage mesenchymal cells from pulmonary hamartoma.Am J Pathol. 1997 Mar;150(3):901-10.
• [19] Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13 through 15 and 13q12 through q14.Cancer Genet Cytogenet. 2002 Feb;133(1):90-3. doi: 10.1016/s0165-4608(01)00553-2.
• [20] Expression patterns of the LPP-HMGA2 fusion transcript in pulmonary chondroid hamartomas with t(3;12)(q27 approximately 28;q14 approximately 15).Cancer Genet Cytogenet. 2005 Nov;163(1):68-70. doi: 10.1016/j.cancergencyto.2005.02.023.
• [21] Tsc2 disruption in mesenchymal progenitors results in tumors with vascular anomalies overexpressing Lgals3.Elife. 2017 Jul 11;6:e23202. doi: 10.7554/eLife.23202.
• [22] Peripapillary Versus Macular Combined Hamartoma of the Retina and Retinal Pigment Epithelium: Imaging Characteristics.Am J Ophthalmol. 2019 Apr;200:263-269. doi: 10.1016/j.ajo.2019.01.016. Epub 2019 Jan 26.
• [23] A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.Dig Dis Sci. 2017 Nov;62(11):3014-3020. doi: 10.1007/s10620-017-4741-5. Epub 2017 Oct 6.
• [24] Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.Fam Cancer. 2015 Mar;14(1):151-5. doi: 10.1007/s10689-014-9752-1.
• [25] Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.Genet Mol Res. 2014 Mar 24;13(1):2102-6. doi: 10.4238/2014.March.24.14.
• [26] Decoding of novel missense TSC2 gene variants using in-silico methods.BMC Med Genet. 2019 Oct 26;20(1):164. doi: 10.1186/s12881-019-0891-y.