eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lymphangioleiomyomatosis | ||||
| Disease ID | 126 |
|---|---|
| Disease | lymphangioleiomyomatosis |
| Definition | rare lung disorder of unknown etiology mostly in women of childbearing age; proliferation of atypical smooth muscle cells in lungs, airways, blood and lymph vessels causing obstruction; symptoms include dyspnea and pneumothorax. |
| Synonym | lymphangioleiomyomatoses lymphangioleiomyomatosis [disease/finding] lymphangiomyomatoses lymphangiomyomatosis lymphangiomyomatosis (morphologic abnormality) |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0751674 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0041341 | tuberous sclerosis | 9 C0041341 | tuberous sclerosis complex | 7 C0032326 | pneumothorax | 3 C0241961 | renal angiomyolipoma | 3 C0041327 | pulmonary tuberculosis | 1 C0042133 | uterine leiomyoma | 1 C0023267 | leiomyomas | 1 C1305409 | atypical adenoma | 1 C0041296 | tuberculosis | 1 C0013990 | emphysema | 1 C0206633 | angiomyolipomas | 1 C0024236 | lymphedema | 1 C1145670 | respiratory failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 64400 | AKTIP | 1.837 | DISEASES 2909 | ARHGAP35 | 1.753 | DISEASES 419 | ART3 | 2.485 | DISEASES 116969 | ART5 | 2.797 | DISEASES 800 | CALD1 | 2.411 | DISEASES 801 | CALM1 | 1.183 | DISEASES 55743 | CHFR | 1.212 | DISEASES 9793 | CKAP5 | 1.977 | DISEASES 2919 | CXCL1 | 1.426 | DISEASES 192668 | CYS1 | 1.465 | DISEASES 780 | DDR1 | 1.106 | DISEASES 4921 | DDR2 | 1.141 | DISEASES 1978 | EIF4EBP1 | 1.616 | DISEASES 7430 | EZR | 1.225 | DISEASES 5348 | FXYD1 | 2.63 | DISEASES 10457 | GPNMB | 1.095 | DISEASES 3039 | HBA1 | 1.068 | DISEASES 3440 | IFNA2 | 1.224 | DISEASES 3321 | IGSF3 | 2.01 | DISEASES 284252 | KCTD1 | 1.774 | DISEASES 2315 | MLANA | 3.969 | DISEASES 4312 | MMP1 | 1.689 | DISEASES 4318 | MMP9 | 1.596 | DISEASES 2475 | MTOR | 5.153 | DISEASES 727897 | MUC5B | 1.058 | DISEASES 56034 | PDGFC | 1.171 | DISEASES 5241 | PGR | 3.388 | DISEASES 11145 | PLA2G16 | 1.423 | DISEASES 6490 | PMEL | 3.225 | DISEASES 64783 | RBM15 | 1.493 | DISEASES 387 | RHOA | 2.298 | DISEASES 253260 | RICTOR | 2.331 | DISEASES 6120 | RPE | 2.268 | DISEASES 6194 | RPS6 | 3.204 | DISEASES 6840 | SVIL | 2.649 | DISEASES 10460 | TACC3 | 1.504 | DISEASES 6949 | TCOF1 | 1.188 | DISEASES 80328 | ULBP2 | 1.481 | DISEASES 79465 | ULBP3 | 1.925 | DISEASES 2837 | UTS2R | 1.588 | DISEASES 7422 | VEGFA | 1.211 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 126 |
|---|---|
| Disease | lymphangioleiomyomatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0005562 | Multiple renal cysts HP:0002239 | Gastrointestinal hemorrhage HP:0012733 | Macule HP:0002094 | Dyspnea HP:0012086 | Abnormal urinary color HP:0012798 | Pulmonary lymphangiomyomatosis HP:0012378 | Fatigue HP:0100543 | Cognitive impairment HP:0002027 | Abdominal pain HP:0001000 | Abnormality of skin pigmentation HP:0009594 | Retinal hamartoma HP:0001004 | Lymphedema HP:0002205 | Recurrent respiratory infections HP:0002716 | Lymphadenopathy HP:0002091 | Restrictive lung disease HP:0002097 | Emphysema HP:0009721 | Shagreen patch HP:0012798 | Pulmonary myomatosis HP:0002113 | Pulmonary infiltrates HP:0000790 | Hematuria HP:0002105 | Hemoptysis HP:0001541 | Ascites HP:0000008 | Abnormality of female internal genitalia HP:0001250 | Seizures HP:0010310 | Chylothorax HP:0100750 | Atelectasis HP:0002107 | Pneumothorax HP:0001945 | Fever HP:0100763 | Abnormality of the lymphatic system HP:0000648 | Optic atrophy HP:0009726 | Renal neoplasm HP:0011852 | Chylopericardium HP:0012735 | Cough HP:0100804 | Ungual fibroma HP:0100749 | Chest pain HP:0000238 | Hydrocephalus HP:0006772 | Renal angiomyolipoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0002107 | Collapsed lung | 3 HP:0006772 | Angiomyolipoma | 3 HP:0002664 | Neoplasia | 2 HP:0000107 | Renal cyst | 1 HP:0200058 | Angiosarcoma | 1 HP:0030731 | Carcinoma | 1 HP:0001004 | Lymphatic obstruction | 1 HP:0000969 | Dropsy | 1 HP:0000131 | Uterine leiomyoma | 1 HP:0002097 | Pulmonary emphysema | 1 HP:0002878 | Respiratory failure | 1 |
| Disease ID | 126 |
|---|---|
| Disease | lymphangioleiomyomatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C1963215 | pneumothorax C1962974 | chylothorax C1253937 | pericardial effusion C1145670 | respiratory failure C0748159 | pulmonary involvement C0438692 | vaginal discharge C0349604 | intracranial meningiomas C0241961 | renal angiomyolipoma C0206633 | angiomyolipomas C0149781 | spontaneous pneumothorax C0041341 | tuberous sclerosis C0032226 | pleural disease C0025286 | meningiomas C0024223 | lymphangiomyoma C0024223 | lymphangioleiomyomas C0024115 | lung diseases C0019158 | hepatitis C0019079 | hemoptysis C0008732 | chylous ascites |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0041341 | tuberous sclerosis | 9 C0032326 | pneumothorax | 3 C0241961 | renal angiomyolipoma | 2 C0024223 | lymphangioleiomyomas | 2 C0206633 | angiomyolipomas | 1 C1145670 | respiratory failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203387 | NA | 7248 | TSC1 | umls:C0751674 | CLINVAR | NA | 0.365700279 | NA | TSC1 | 9 | 132923365 | C | T |
| rs118203388 | NA | 7248 | TSC1 | umls:C0751674 | CLINVAR | NA | 0.365700279 | NA | TSC1 | 9 | 132923361 | G | T |
| rs137854218 | NA | 7249 | TSC2 | umls:C0751674 | CLINVAR | NA | 0.576859191 | NA | PKD1;TSC2 | 16 | 2088293 | CGGCTCCGCCACATCAAG | - |
| rs28934872 | NA | 7249 | TSC2 | umls:C0751674 | CLINVAR | NA | 0.576859191 | NA | TSC2 | 16 | 2070571 | G | A |
| rs45483392 | NA | 7249 | TSC2 | umls:C0751674 | CLINVAR | NA | 0.576859191 | NA | TSC2 | 16 | 2087897 | C | T |
| rs45517148 | NA | 7249 | TSC2 | umls:C0751674 | CLINVAR | NA | 0.576859191 | NA | TSC2 | 16 | 2060790 | G | A,T |
| rs45517179 | NA | 7249 | TSC2 | umls:C0751674 | CLINVAR | NA | 0.576859191 | NA | TSC2 | 16 | 2064341 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001000 | Abnormality of skin pigmentation | 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 |
| HP:0100763 | Abnormality of the lymphatic system | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0002091 | Restrictive lung disease | MP:0008714 | increased lung carcinoma incidence | greater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period |
| HP:0000008 | Abnormality of female internal genitalia | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012798 | Pulmonary lymphangiomyomatosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001250 | Seizures | 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:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000008 | Abnormality of female internal genitalia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001004 | Lymphedema | 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0100763 | Abnormality of the lymphatic system | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0100750 | Atelectasis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002107 | Pneumothorax | MP:0012080 | chylous ascites | the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms |
| HP:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009721 | Shagreen patch | 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:0009726 | Renal neoplasm | 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:0100804 | Ungual fibroma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002105 | Hemoptysis | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0006772 | Renal angiomyolipoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0009594 | Retinal hamartoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000648 | Optic atrophy | 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:0002091 | Restrictive lung disease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 126 |
|---|---|
| Disease | lymphangioleiomyomatosis |
| Case | (Waiting for update.) |