PedAM

Pediatric Disease Annotations & Medicines


	hereditary hemorrhagic telangiectasia

Disease ID	43
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	ORPHANET:774
OMIM	OMIM:187300
DOID	DOID:1270
ICD10	ICD10CM:I78.0
UMLS	C0039445
MeSH	D013683
SNOMED-CT	SNOMEDCT_US_2016_09_01:21877004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:28) C0003857 \| arteriovenous malformation \| 25 C0020538 \| hypertension \| 7 C1619734 \| pulmonary arterial hypertension \| 4 C0020542 \| pulmonary hypertension \| 3 C0014118 \| endocarditis \| 2 C0002871 \| anemia \| 2 C0162316 \| iron deficiency anemia \| 1 C0162316 \| iron-deficiency anemia \| 1 C0003486 \| aortic aneurysms \| 1 C0022735 \| hypogonadotropic hypogonadism \| 1 C0035302 \| retinal artery occlusion \| 1 C0751955 \| brain infarction \| 1 C0020541 \| portal hypertension \| 1 C0010346 \| crohn's disease \| 1 C0006123 \| branch retinal artery occlusion \| 1 C0398623 \| hypercoagulability \| 1 C0017601 \| glaucoma \| 1 C0751955 \| brain infarct \| 1 C0017612 \| open angle glaucoma \| 1 C0019158 \| hepatitis \| 1 C0007787 \| transient ischemic attack \| 1 C0345893 \| juvenile polyposis \| 1 C0345893 \| juvenile polyposis syndrome \| 1 C0018801 \| heart failure \| 1 C0039446 \| telangiectasia \| 1 C0035302 \| retinal artery occlusions \| 1 C0020619 \| hypogonadism \| 1 C0003486 \| aortic aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) SMAD4 \| 4089 \| ORPHANET;GHR ACVRL1 \| 94 \| CTD_human;ORPHANET;GHR GDF2 \| 2658 \| ORPHANET ENG \| 2022 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 94 \| ACVRL1 \| infer 2022 \| ENG \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 7040 \| TGFB1 \| DISEASES 54922 \| RASIP1 \| DISEASES 657 \| BMPR1A \| DISEASES 59 \| ACTA2 \| DISEASES 116449 \| CLNK \| DISEASES 9173 \| IL1RL1 \| DISEASES 84634 \| KISS1R \| DISEASES 7043 \| TGFB3 \| DISEASES 92 \| ACVR2A \| DISEASES 1948 \| EFNB2 \| DISEASES 2658 \| GDF2 \| DISEASES 182 \| JAG1 \| DISEASES 7450 \| VWF \| DISEASES 5629 \| PROX1 \| DISEASES 4092 \| SMAD7 \| DISEASES 4087 \| SMAD2 \| DISEASES 90 \| ACVR1 \| DISEASES 440275 \| EIF2AK4 \| DISEASES 2255 \| FGF10 \| DISEASES 5921 \| RASA1 \| DISEASES 54539 \| NDUFB11 \| DISEASES 1834 \| DSPP \| DISEASES 3672 \| ITGA1 \| DISEASES 4091 \| SMAD6 \| DISEASES 27302 \| BMP10 \| DISEASES 4846 \| NOS3 \| DISEASES 2923 \| PDIA3 \| DISEASES 1398 \| CRK \| DISEASES 3777 \| KCNK3 \| DISEASES 144125 \| OR2AG1 \| DISEASES 1601 \| DAB2 \| DISEASES 285 \| ANGPT2 \| DISEASES 57674 \| RNF213 \| DISEASES 7791 \| ZYX \| DISEASES 2314 \| FLII \| DISEASES 2200 \| FBN1 \| DISEASES 10250 \| SRRM1 \| DISEASES 8519 \| IFITM1 \| DISEASES 4088 \| SMAD3 \| DISEASES 5521 \| PPP2R2B \| DISEASES 23462 \| HEY1 \| DISEASES 4089 \| SMAD4 \| DISEASES 343521 \| TCTEX1D4 \| DISEASES 2701 \| GJA4 \| DISEASES 889 \| KRIT1 \| DISEASES 5606 \| MAP2K3 \| DISEASES 2534 \| FYN \| DISEASES 133584 \| EGFLAM \| DISEASES 2050 \| EPHB4 \| DISEASES 7048 \| TGFBR2 \| DISEASES 23607 \| CD2AP \| DISEASES 7004 \| TEAD4 \| DISEASES 1066 \| CES1 \| DISEASES 7042 \| TGFB2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 23493 \| HEY2 \| DISEASES 1942 \| EFNA1 \| DISEASES 11146 \| GLMN \| DISEASES 1289 \| COL5A1 \| DISEASES 7422 \| VEGFA \| DISEASES 4595 \| MUTYH \| DISEASES 6709 \| SPTAN1 \| DISEASES 2022 \| ENG \| DISEASES 6812 \| STXBP1 \| DISEASES 7633 \| ZNF79 \| DISEASES 8200 \| GDF5 \| DISEASES 3399 \| ID3 \| DISEASES 659 \| BMPR2 \| DISEASES 7046 \| TGFBR1 \| DISEASES 3397 \| ID1 \| DISEASES 80036 \| TRPM3 \| DISEASES 8573 \| CASK \| DISEASES 7010 \| TEK \| DISEASES 83605 \| CCM2 \| DISEASES 11082 \| ESM1 \| DISEASES 94 \| ACVRL1 \| DISEASES 238 \| ALK \| DISEASES 7026 \| NR2F2 \| DISEASES 6387 \| CXCL12 \| DISEASES 4214 \| MAP3K1 \| DISEASES 7018 \| TF \| DISEASES 4052 \| LTBP1 \| DISEASES 7852 \| CXCR4 \| DISEASES 3384 \| ICAM2 \| DISEASES 11277 \| TREX1 \| DISEASES 55273 \| TMEM100 \| DISEASES 5795 \| PTPRJ \| DISEASES 8831 \| SYNGAP1 \| DISEASES 23089 \| PEG10 \| DISEASES 83695 \| RHNO1 \| DISEASES 4090 \| SMAD5 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) ACVRL1 \| 12q13.13 ENG \| 9q34.11 SMAD4 \| 18q21.2 GDF2 \| 10q11.22

Disease ID	43
Disease	hereditary hemorrhagic telangiectasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:34) HP:0001082 \| Cholecystitis HP:0002239 \| Gastrointestinal hemorrhage HP:0001635 \| Congestive heart failure HP:0000787 \| Nephrolithiasis HP:0007420 \| Spontaneous hematomas HP:0001394 \| Cirrhosis HP:0002092 \| Pulmonary arterial hypertension HP:0100585 \| Telangiectasia of the skin HP:0001935 \| Microcytic anemia HP:0004936 \| Venous thrombosis HP:0000524 \| Conjunctival telangiectasia HP:0001250 \| Seizures HP:0002105 \| Hemoptysis HP:0011025 \| Abnormality of cardiovascular system physiology HP:0100784 \| Peripheral arteriovenous fistula HP:0100026 \| Arteriovenous malformation HP:0001399 \| Hepatic failure HP:0001081 \| Cholelithiasis HP:0002204 \| Pulmonary embolism HP:0002138 \| Subarachnoid hemorrhage HP:0100659 \| Abnormality of the cerebral vasculature HP:0000646 \| Amblyopia HP:0000421 \| Epistaxis HP:0000790 \| Hematuria HP:0002040 \| Esophageal varix HP:0002326 \| Transient ischemic attack HP:0100761 \| Visceral angiomatosis HP:0001409 \| Portal hypertension HP:0001048 \| Cavernous hemangioma HP:0200008 \| Intestinal polyposis HP:0007763 \| Retinal telangiectasia HP:0001342 \| Cerebral hemorrhage HP:0002076 \| Migraine HP:0100579 \| Mucosal telangiectasiae
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0000421 \| Bloody nose \| 31 HP:0012721 \| Venous malformations \| 27 HP:0100026 \| Arteriovenous malformation \| 25 HP:0006548 \| Pulmonary av malformation \| 18 HP:0000822 \| Hypertension \| 7 HP:0004406 \| Recurrent epistaxes \| 4 HP:0002092 \| Pulmonary artery hypertension \| 4 HP:0004947 \| Arteriovenous fistula \| 4 HP:0002617 \| Aneurysmal dilatation \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0100584 \| Endocarditis \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0001891 \| Iron-deficiency anemia \| 2 HP:0006576 \| Liver vascular malformations \| 2 HP:0001903 \| Anemia \| 2 HP:0002321 \| Vertigo \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0004952 \| Pulmonary arteriovenous fistulas \| 1 HP:0000135 \| Hypogonadism \| 1 HP:0001009 \| Telangiectases \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0000501 \| Glaucoma \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0002094 \| Dyspnea \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0002326 \| TIA \| 1 HP:0100762 \| Hemobilia \| 1 HP:0001409 \| Portal hypertension \| 1

Disease ID	43
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:15) C0003857 \| arteriovenous malformation \| 25 C0743554 \| recurrent epistaxis \| 4 C1619734 \| pulmonary arterial hypertension \| 4 C0020542 \| pulmonary hypertension \| 3 C0016169 \| fistula \| 2 C0002871 \| anemia \| 2 C0002940 \| aneurysms \| 2 C0018994 \| hemobilia \| 1 C0020541 \| portal hypertension \| 1 C0019158 \| hepatitis \| 1 C0948017 \| venous aneurysm \| 1 C0002940 \| aneurysm \| 1 C0003486 \| aortic aneurysms \| 1 C0019080 \| hemorrhage \| 1 C0155675 \| pulmonary arteriovenous fistulas \| 1

Manually Genotype(Total Text Mining 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)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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