eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary hemorrhagic telangiectasia | ||||
| Disease ID | 60 |
|---|---|
| Disease | hereditary hemorrhagic telangiectasia |
| Definition | An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA. |
| Synonym | disease osler weber rendu disease rendu-osler-weber disease, osler's hemorrhagic telangiectasia, hereditary heredit hemorr telangiec hereditary haemorrhagic telangiectasia hht hht - hereditary haemorrhagic telangiectasia hht - hereditary hemorrhagic telangiectasia hht1 orw disease osler disease osler haemorrhagic telangiectasia syndrome osler hemorrhagic telangiectasia syndrome osler hemorrhagic telangiectasia syndrome (disorder) osler rendu dis osler rendu disease osler rendu syndrome weber osler rendu weber osler rendu weber dis osler rendu weber disease osler rendus syndrome weber osler weber rendu osler weber rendu disease osler weber rendu syndrome osler-rendu disease osler-rendu-weber disease osler-rendu-weber syndrome osler-weber-rendu disease osler-weber-rendu syndrome rendu osler disease rendu osler weber rendu osler weber disease rendu osler weber syndrome rendu weber osler rendu weber osler disease rendu-osler-weber rendu-osler-weber disease rendu-osler-weber syndrome synonym deleted refer to dc-f4801 telangiectasia, hereditary hemorrahagic, of rendu, osler telangiectasia, hereditary hemorrhagic telangiectasia, hereditary hemorrhagic [disease/finding] telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber telangiectasia, hereditary hemorrhagic, type 1 weber osler weber-osler |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0039445 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:36) C0003857 | arteriovenous malformation | 40 C0020538 | hypertension | 10 C0020542 | pulmonary hypertension | 6 C1619734 | pulmonary arterial hypertension | 4 C0014118 | endocarditis | 2 C0019151 | portosystemic encephalopathy | 2 C0002871 | anemia | 2 C0039446 | telangiectasia | 1 C0035302 | retinal artery occlusion | 1 C0003486 | aortic aneurysms | 1 C0030781 | peliosis hepatis | 1 C0017601 | glaucoma | 1 C0398623 | hypercoagulability | 1 C0019204 | hepatocellular carcinoma | 1 C0017612 | open angle glaucoma | 1 C0010346 | crohn's disease | 1 C0020619 | hypogonadism | 1 C0006123 | branch retinal artery occlusion | 1 C0020541 | portal hypertension | 1 C0751955 | brain infarction | 1 C0034150 | peliosis | 1 C0345893 | juvenile polyposis | 1 C0003486 | aortic aneurysm | 1 C0002871 | anaemia | 1 C0345893 | juvenile polyposis syndrome | 1 C0027051 | myocardial infarction | 1 C0022735 | hypogonadotropic hypogonadism | 1 C0018801 | heart failure | 1 C0027051 | myocardial infarct | 1 C0162316 | iron deficiency anemia | 1 C0751955 | brain infarct | 1 C0162316 | iron-deficiency anemia | 1 C0035302 | retinal artery occlusions | 1 C0019158 | hepatitis | 1 C0002766 | analgesia | 1 C0007787 | transient ischemic attack | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:59) 94 | ACVRL1 | 7.69 | DISEASES 238 | ALK | 2.121 | DISEASES 659 | BMPR2 | 4.956 | DISEASES 8573 | CASK | 1.605 | DISEASES 83605 | CCM2 | 1.16 | DISEASES 23607 | CD2AP | 1.734 | DISEASES 1066 | CES1 | 1.068 | DISEASES 1289 | COL5A1 | 2.4 | DISEASES 6387 | CXCL12 | 1.023 | DISEASES 7852 | CXCR4 | 1.018 | DISEASES 6993 | DYNLT1 | 1.238 | DISEASES 1942 | EFNA1 | 1.153 | DISEASES 133584 | EGFLAM | 2.228 | DISEASES 2022 | ENG | 7.222 | DISEASES 2050 | EPHB4 | 1.068 | DISEASES 11082 | ESM1 | 1.167 | DISEASES 2200 | FBN1 | 1.259 | DISEASES 2314 | FLII | 1.341 | DISEASES 2534 | FYN | 2.303 | DISEASES 8200 | GDF5 | 1.037 | DISEASES 2701 | GJA4 | 1.272 | DISEASES 11146 | GLMN | 2.097 | DISEASES 23462 | HEY1 | 1.03 | DISEASES 23493 | HEY2 | 1.265 | DISEASES 3384 | ICAM2 | 1.25 | DISEASES 3397 | ID1 | 2.823 | DISEASES 3399 | ID3 | 1.172 | DISEASES 8519 | IFITM1 | 1.402 | DISEASES 889 | KRIT1 | 1.97 | DISEASES 4052 | LTBP1 | 1.695 | DISEASES 5606 | MAP2K3 | 1.053 | DISEASES 4214 | MAP3K1 | 1.082 | DISEASES 4595 | MUTYH | 1.37 | DISEASES 7026 | NR2F2 | 1.282 | DISEASES 23089 | PEG10 | 1.174 | DISEASES 5521 | PPP2R2B | 1.43 | DISEASES 5795 | PTPRJ | 1.477 | DISEASES 83695 | RHNO1 | 1.217 | DISEASES 57674 | RNF213 | 1.51 | DISEASES 4088 | SMAD3 | 2.059 | DISEASES 4089 | SMAD4 | 5.309 | DISEASES 4090 | SMAD5 | 2.314 | DISEASES 6709 | SPTAN1 | 1.161 | DISEASES 10250 | SRRM1 | 1.789 | DISEASES 6812 | STXBP1 | 1.275 | DISEASES 8831 | SYNGAP1 | 2.516 | DISEASES 343521 | TCTEX1D4 | 4.614 | DISEASES 7004 | TEAD4 | 2.09 | DISEASES 7010 | TEK | 1.163 | DISEASES 7018 | TF | 1.251 | DISEASES 7042 | TGFB2 | 1.255 | DISEASES 7046 | TGFBR1 | 4.243 | DISEASES 7048 | TGFBR2 | 2.129 | DISEASES 55273 | TMEM100 | 2.732 | DISEASES 11277 | TREX1 | 1.15 | DISEASES 80036 | TRPM3 | 1.575 | DISEASES 7422 | VEGFA | 3.226 | DISEASES 7633 | ZNF79 | 2.809 | DISEASES 7791 | ZYX | 3.115 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 60 |
|---|---|
| Disease | hereditary hemorrhagic telangiectasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:50) C2702529 | duodenal arteriovenous malformation C2186532 | liver disease C1963220 | pulmonary hypertension C1704212 | embolism C1619734 | pulmonary arterial hypertension C1550639 | fistula C1510428 | cerebral abscess C1402315 | vascular lesions C1384590 | hemangiomatosis C1096116 | acquired haemophilia C1000483 | anemia C0948017 | venous aneurysm C0917996 | cerebral aneurysm C0878552 | coronary artery ectasia C0752303 | urological manifestations C0744273 | gastric angiodysplasia C0743554 | recurrent nosebleeds C0743554 | recurrent epistaxis C0521595 | duodenal bleeding C0426466 | nosebleeds C0334533 | arteriovenous malformation C0267373 | intestinal bleeding C0267370 | angiodysplasia C0239946 | liver fibrosis C0235325 | gastric bleeding C0155675 | pulmonary arteriovenous fistulas C0155675 | pulmonary arteriovenous fistula C0039446 | telangiectasias C0039446 | telangiectases C0038525 | subarachnoid hemorrhage C0031090 | periodontal disease C0029166 | oral manifestations C0023895 | hepatic disease C0023890 | liver cirrhosis C0020541 | portal hypertension C0019158 | hepatitis C0019151 | portosystemic encephalopathy C0019080 | hemorrhage C0018994 | hemobilia C0018989 | hemiparesis C0018916 | angiomas C0018801 | cardiac failure C0017181 | gastrointestinal hemorrhage C0007684 | central nervous system infections C0007177 | pericardial tamponade C0007177 | cardiac tamponade C0006105 | brain abscess C0003486 | aortic aneurysms C0002940 | aneurysms C0002940 | aneurysm |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:18) C0003857 | arteriovenous malformation | 37 C1619734 | pulmonary arterial hypertension | 4 C0743554 | recurrent epistaxis | 4 C0020542 | pulmonary hypertension | 3 C0016169 | fistula | 3 C0002940 | aneurysms | 2 C0002871 | anemia | 2 C0019151 | portosystemic encephalopathy | 2 C0019158 | hepatitis | 1 C1510428 | cerebral abscess | 1 C1393529 | vascular complications | 1 C0155675 | pulmonary arteriovenous fistula | 1 C0002940 | aneurysm | 1 C0018994 | hemobilia | 1 C0003486 | aortic aneurysms | 1 C0948017 | venous aneurysm | 1 C0020541 | portal hypertension | 1 C0019080 | hemorrhage | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116330805 | 15024723 | 2022 | ENG | umls:C0039445 | UNIPROT | Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. | 0.616832005 | 2004 | ENG | 9 | 127818296 | C | T |
| rs121918400 | NA | 2022 | ENG | umls:C0039445 | CLINVAR | NA | 0.616832005 | NA | ENG | 9 | 127824960 | G | C,A |
| rs121918401 | NA | 2022 | ENG | umls:C0039445 | CLINVAR | NA | 0.616832005 | NA | ENG | 9 | 127819934 | C | T,A |
| rs121918402 | NA | 2022 | ENG | umls:C0039445 | CLINVAR | NA | 0.616832005 | NA | ENG | 9 | 127829687 | G | T,A |
| rs267606783 | NA | 2022 | ENG | umls:C0039445 | CLINVAR | NA | 0.616832005 | NA | ENG | 9 | 127854354 | A | G |
| rs730880096 | NA | 2022 | ENG | umls:C0039445 | CLINVAR | NA | 0.616832005 | NA | ENG | 9 | 127829788 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0002138 | Subarachnoid hemorrhage | MP:0001914 | hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| HP:0001409 | Portal hypertension | MP:0000231 | hypertension | sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| HP:0001935 | Microcytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0001048 | Cavernous hemangioma | MP:0002947 | increased hemangioma incidence | greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (cave |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0001342 | Cerebral hemorrhage | MP:0001914 | hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007763 | Retinal telangiectasia | MP:0011704 | decreased fibroblast proliferation | reduction in the expansion rate of a fibroblast cell population by cell division |
| HP:0100579 | Mucosal telangiectasiae | 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: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:0002326 | Transient ischemic attack | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002138 | Subarachnoid hemorrhage | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000524 | Conjunctival telangiectasia | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002040 | Esophageal varix | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0001409 | Portal hypertension | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0001082 | Cholecystitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0001342 | Cerebral hemorrhage | 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:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100761 | Visceral angiomatosis | 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:0002076 | Migraine | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100784 | Peripheral arteriovenous fistula | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0200008 | Intestinal polyposis | 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:0000421 | Epistaxis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100026 | Arteriovenous malformation | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001935 | Microcytic anemia | 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:0000646 | Amblyopia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002204 | Pulmonary embolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001048 | Cavernous hemangioma | 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:0007420 | Spontaneous hematomas | MP:0013693 | abnormal hemopoiesis | any anomaly in the process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure; the site of hemopoiesis is variable d |
| Disease ID | 60 |
|---|---|
| Disease | hereditary hemorrhagic telangiectasia |
| Case | (Waiting for update.) |