eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary leiomyomatosis and renal cell cancer | ||||
| Disease ID | 1683 |
|---|---|
| Disease | hereditary leiomyomatosis and renal cell cancer |
| Definition | A rare inherited disorder that increases the risk of developing benign (not cancer) tumors of the skin and the uterus (leiomyomas) and malignant (cancer) tumors of the uterus (leiomyosarcoma) and the kidney. |
| Synonym | cutaneous leiomyomata with uterine leiomyomata hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell carcinoma hlrcc leiomyoma, hereditary multiple, of skin leiomyoma, multiple cutaneous leiomyomatosis and renal cell cancer, hereditary lrcc mcul1 multiple cutaneous and uterine leiomyomata 1 multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma multiple cutaneous and uterine leiomyomatosis multiple cutaneous leiomyomas reed's syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1708350 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0023267 | leiomyomas | 2 C0042133 | uterine leiomyoma | 2 C0278678 | metastatic renal cell carcinoma | 1 C0740457 | renal cancer | 1 C0032580 | polyposis coli | 1 C0007134 | renal carcinoma | 1 C0021359 | infertility | 1 C0026848 | myopathy | 1 C0021364 | male infertility | 1 C0023269 | leiomyosarcomas | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FH | 1q43 |
| Disease ID | 1683 |
|---|---|
| Disease | hereditary leiomyomatosis and renal cell cancer |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0100751 | Esophageal neoplasm HP:0100650 | Vaginal neoplasm HP:0007437 | Multiple cutaneous leiomyomas HP:0000518 | Cataract HP:0003011 | Abnormality of the musculature HP:0006732 | Papillary renal cell carcinoma type 2 HP:0100580 | Barrett esophagus HP:0000989 | Pruritus HP:0000131 | Uterine leiomyoma HP:0007620 | Cutaneous leiomyoma HP:0002891 | Uterine leiomyosarcoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0009726 | Renal neoplasm | 2 HP:0000131 | Uterine leiomyoma | 2 HP:0002664 | Neoplasia | 2 HP:0003198 | Myopathic changes | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0000789 | Infertility | 1 HP:0100723 | Gastrointestinal stroma tumor | 1 HP:0003251 | Male infertility | 1 |
| Disease ID | 1683 |
|---|---|
| Disease | hereditary leiomyomatosis and renal cell cancer |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913120 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241513680 | G | A |
| rs121913121 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241513661 | T | G |
| rs121913122 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241504123 | G | A |
| rs121913123 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241508643 | C | T,A |
| rs28933069 | 11865300 | 2271 | FH | umls:C1708350 | UNIPROT | Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. | 0.493843535 | 2002 | NA | NA | NA | NA | NA |
| rs387906546 | 16757530 | 3938 | LCT | umls:C1708350 | BeFree | In addition to the HLRCC case with the N64T germline FH mutation, we identified one other LCT with a previously unreported FH mutation (M411I). | 0.000271442 | 2006 | FH | 1 | 241517258 | T | G |
| rs387906546 | 16757530 | 2271 | FH | umls:C1708350 | BeFree | In addition to the HLRCC case with the N64T germline FH mutation, we identified one other LCT with a previously unreported FH mutation (M411I). | 0.493843535 | 2006 | FH | 1 | 241517258 | T | G |
| rs587781682 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241508644 | G | A |
| rs727503927 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241504083 | A | T |
| rs75086406 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241513679 | C | T,G |
| rs780001199 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241508669 | CT | - |
| rs794727698 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241508786 | C | G |
| rs794727836 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241504232 | GACAAAA | - |
| rs797044973 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241504246 | C | T |
| rs797044974 | NA | 2271 | FH | umls:C1708350 | CLINVAR | NA | 0.493843535 | NA | FH | 1 | 241502469 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002891 | Uterine leiomyosarcoma | MP:0002035 | increased leiomyosarcoma incidence | greater than the expected number of a malignant tumor derived from smooth (nonstriated) muscle, occurring in a specific population in a given time period |
| HP:0003011 | Abnormality of the musculature | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000131 | Uterine leiomyoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003011 | Abnormality of the musculature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002891 | Uterine leiomyosarcoma | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0007620 | Cutaneous leiomyoma | MP:0011096 | embryonic lethality between implantation and somite formation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007437 | Multiple cutaneous leiomyomas | MP:0011096 | embryonic lethality between implantation and somite formation, complete penetrance | death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8) |
| HP:0100580 | Barrett esophagus | MP:0010873 | decreased trabecular bone mass | reduced total amount of trabecular bone tissue contained in the skeleton |
| HP:0100751 | Esophageal neoplasm | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 1683 |
|---|---|
| Disease | hereditary leiomyomatosis and renal cell cancer |
| Case | (Waiting for update.) |