Details of Disease

General Information of Disease (ID: DISNOOME)

Disease Name Leiomyomatosis
Synonyms leiomyomatosis, no ICD-O subtype (morphologic abnormality); leiomyomatosis, no ICD-O subtype; leiomyomatosis
Definition A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.
Disease Hierarchy
DISLDDFN: Leiomyoma
DISNOOME: Leiomyomatosis
Disease Identifiers
MONDO ID
MONDO_0003295
MESH ID
D018231
UMLS CUI
C0206654
MedGen ID
60203
SNOMED CT ID
1157154004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ELOC OT0XHHWP Limited Genetic Variation [1]
OPN3 OTON6BFU Limited Genetic Variation [2]
RGS7 OTDQA90X Limited Genetic Variation [2]
FH OTEQWU6Q moderate Biomarker [3]
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References

1 Morphologic, Molecular, and Taxonomic Evolution of Renal Cell Carcinoma: A Conceptual Perspective With Emphasis on Updates to the 2016 World Health Organization Classification.Arch Pathol Lab Med. 2016 Oct;140(10):1026-37. doi: 10.5858/arpa.2016-0218-RA.
2 Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.Cancer Genet Cytogenet. 2003 Dec;147(2):121-7. doi: 10.1016/s0165-4608(03)00196-1.
3 Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples.Cancer Cytopathol. 2018 Dec;126(12):992-1002. doi: 10.1002/cncy.22071. Epub 2018 Oct 19.