Details of Disease

General Information of Disease (ID: DISN22G2)

• Disease Name: Hereditary leiomyomatosis and renal cell cancer
• Synonyms: LRCC; multiple cutaneous leiomyomata; Reed's syndrome; leiomyomatosis and renal cell cancer, hereditary; leiomyoma, multiple cutaneous; multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma; multiple cutaneous and uterine leiomyomata; leiomyomatosis familial; Hereditary Leiomyomatosis and Renal Cell Carcinoma; familial leiomyomatosis with renal carcinoma; familial leiomyomatosis cutis et uteri; leiomyomatosis and renal cell cancer; HLRCC; Reed syndrome; hereditary leiomyomatosis; hereditary leiomyomatosis and renal cell carcinoma; familial leiomyomatosis; hereditary leiomyomatosis and renal cell cancer syndrome; hereditary leiomyomatosis and renal cell cancer; MCUL; familial multiple cutaneous leiomyomas; hereditary multiple cutaneous leiomyomas; hereditary leiomyomatosis with renal carcinoma; familial leiomyomatosis and renal cell cancer; multiple cutaneous and uterine leiomyomas
• Definition: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
• Disease Hierarchy:
  DISGXLG5: Hereditary neoplastic syndrome
  DISN22G2: Hereditary leiomyomatosis and renal cell cancer
• Disease Identifiers:
  MONDO ID: MONDO_0007888
  MESH ID: C535516
  UMLS CUI: C1708350
  OMIM ID: 150800
  MedGen ID: 353771
  HPO ID: HP:0007437
  Orphanet ID: 523
  SNOMED CT ID: 1162799008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BTK	TTGM6VW	Strong	Altered Expression	[1]
SORD	TTLSRBZ	Strong	Biomarker	[2]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX11	OT4LG7LA	Limited	Altered Expression	[3]
SARDH	OTQ49Q27	Strong	Biomarker	[2]
SDHB	OTRE1M1T	Strong	Biomarker	[2]
SDS	OT5WTJ2M	Strong	Biomarker	[2]
SPIB	OTO4YKYI	Strong	Altered Expression	[4]
FH	OTEQWU6Q	Definitive	Autosomal dominant	[5]
PTPN12	OT5WA666	Definitive	Posttranslational Modification	[6]

References

• [1] Discovery of pyrazolopyrimidine derivatives as potent BTK inhibitors with effective anticancer activity in MCL.Bioorg Chem. 2019 Aug;89:102943. doi: 10.1016/j.bioorg.2019.102943. Epub 2019 Apr 25.
• [2] Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nat Genet. 2018 Aug;50(8):1086-1092. doi: 10.1038/s41588-018-0170-4. Epub 2018 Jul 16.
• [3] SOX11 expression as a MRD molecular marker for MCL in comparison with t(11;14) and IGH rearrangement.Med Oncol. 2018 Mar 8;35(4):49. doi: 10.1007/s12032-018-1111-x.
• [4] Bortezomib prevents cytarabine resistance in MCL, which is characterized by down-regulation of dCK and up-regulation of SPIB resulting in high NF-B activity.BMC Cancer. 2018 Apr 25;18(1):466. doi: 10.1186/s12885-018-4346-1.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [6] Pathologic Oxidation of PTPN12 Underlies ABL1 Phosphorylation in Hereditary Leiomyomatosis and Renal Cell Carcinoma.Cancer Res. 2018 Dec 1;78(23):6539-6548. doi: 10.1158/0008-5472.CAN-18-0901. Epub 2018 Oct 8.