eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| loeys-dietz syndrome | ||||
| Disease ID | 810 |
|---|---|
| Disease | loeys-dietz syndrome |
| Definition | A rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones. |
| Synonym | loeys dietz syndrome loeys-dietz syndrome (disorder) loeys-dietz syndrome [disease/finding] syndrome, loeys-dietz |
| Orphanet | |
| DOID | |
| UMLS | C2697932 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0024796 | marfan syndrome | 2 C0917996 | cerebral aneurysm | 2 C0520679 | obstructive sleep apnea | 1 C0162872 | thoracic aortic aneurysms | 1 C0007766 | intracranial aneurysms | 1 C0009324 | ulcerative colitis | 1 C0007766 | intracranial aneurysm | 1 C0007766 | cranial aneurysm | 1 C0009319 | colitis | 1 C0037315 | sleep apnea | 1 C0003486 | aortic aneurysms | 1 C0023316 | lens subluxation | 1 C0162872 | thoracic aortic aneurysm | 1 C0029408 | osteoarthritis | 1 C0152021 | congenital heart disease | 1 C0003486 | aortic aneurysm | 1 C0018799 | heart disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 84281 | C2orf88 | 4.601 | DISEASES 1290 | COL5A2 | 2.189 | DISEASES 399697 | CTXN2 | 3.574 | DISEASES 81704 | DOCK8 | 1.886 | DISEASES 1854 | DUT | 2.19 | DISEASES 2192 | FBLN1 | 1.965 | DISEASES 2200 | FBN1 | 6.149 | DISEASES 51454 | GULP1 | 2.961 | DISEASES 26275 | HIBCH | 2.999 | DISEASES 3628 | INPP1 | 3.311 | DISEASES 8076 | MFAP5 | 2.764 | DISEASES 4629 | MYH11 | 2.607 | DISEASES 4638 | MYLK | 1.405 | DISEASES 4664 | NAB1 | 3.523 | DISEASES 94101 | ORMDL1 | 3.628 | DISEASES 5238 | PGM3 | 2.263 | DISEASES 221692 | PHACTR1 | 2.549 | DISEASES 5378 | PMS1 | 1.023 | DISEASES 6557 | SLC12A1 | 1.452 | DISEASES 283652 | SLC24A5 | 2.633 | DISEASES 81031 | SLC2A10 | 3.678 | DISEASES 4088 | SMAD3 | 4.343 | DISEASES 4089 | SMAD4 | 1.273 | DISEASES 6775 | STAT4 | 1.058 | DISEASES 7042 | TGFB2 | 4.275 | DISEASES 7046 | TGFBR1 | 6.658 | DISEASES 7048 | TGFBR2 | 6.815 | DISEASES 7189 | TRAF6 | 1.043 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 810 |
|---|---|
| Disease | loeys-dietz syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C2046121 | aortic dissection |
| 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:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893810 | 19875893 | 7048 | TGFBR2 | umls:C2697932 | BeFree | A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. | 0.250314791 | 2009 | TGFBR2 | 3 | 30691477 | C | T |
| rs104893819 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30688470 | C | T |
| rs111854391 | NA | 7046 | TGFBR1 | umls:C2697932 | CLINVAR | NA | 0.247328931 | NA | TGFBR1 | 9 | 99138006 | C | T |
| rs193922660 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30672334 | A | G |
| rs193922661 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30672335 | T | A |
| rs193922662 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30672346 | A | G |
| rs193922664 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30691435 | T | C |
| rs193922665 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30650316 | C | T |
| rs587782977 | NA | 4088 | SMAD3 | umls:C2697932 | CLINVAR | NA | 0.240542884 | NA | SMAD3 | 15 | 67165052 | G | A |
| rs587782979 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30674232 | G | A |
| rs727503477 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30691486 | G | A |
| rs727504421 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30691465 | G | A,T |
| rs730880213 | NA | 4088 | SMAD3 | umls:C2697932 | CLINVAR | NA | 0.240542884 | NA | SMAD3 | 15 | 67066323 | A | C |
| rs730880214 | NA | 4088 | SMAD3 | umls:C2697932 | CLINVAR | NA | 0.240542884 | NA | SMAD3 | 15 | 67181442 | G | A |
| rs730880215 | NA | 4088 | SMAD3 | umls:C2697932 | CLINVAR | NA | 0.240542884 | NA | SMAD3 | 15 | 67181453 | G | A |
| rs730880221 | NA | 7042 | TGFB2 | umls:C2697932 | CLINVAR | NA | 0.241085767 | NA | TGFB2 | 1 | 218434115 | C | T |
| rs730880223 | NA | 7046 | TGFBR1 | umls:C2697932 | CLINVAR | NA | 0.247328931 | NA | TGFBR1 | 9 | 99149237 | A | G |
| rs730880224 | NA | 7048 | TGFBR2 | umls:C2697932 | CLINVAR | NA | 0.250314791 | NA | TGFBR2 | 3 | 30674127 | C | A,T |
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:0000987 | Atypical scarring of skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0100490 | Camptodactyly of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0004942 | Aortic aneurysm | MP:0010661 | ascending aorta aneurysm | a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall |
| HP:0005294 | Arterial dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0002647 | Aortic dissection | MP:0004044 | aortic dissection | a pathologic process, characterized by splitting of the media layer of the aorta, which leads to formation of a dissecting aneurysm |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000193 | Bifid uvula | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000987 | Atypical scarring of skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000098 | Tall stature | 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:0000592 | Blue sclerae | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005294 | Arterial dissection | MP:0011575 | dilated aorta bulb | the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0005116 | Arterial tortuosity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001695 | Cardiac arrest | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001643 | Patent ductus arteriosus | 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:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002617 | Aneurysm | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001065 | Striae distensae | 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:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004942 | Aortic aneurysm | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100718 | Uterine rupture | MP:0011575 | dilated aorta bulb | the luminal space of the aorta bulb is increased in volume or area, usually with an increase of contained fluid |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000202 | Oral cleft | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002647 | Aortic dissection | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| Disease ID | 810 |
|---|---|
| Disease | loeys-dietz syndrome |
| Case | (Waiting for update.) |