eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| angioosteohypertrophic syndrome | ||||
| Disease ID | 653 |
|---|---|
| Disease | angioosteohypertrophic syndrome |
| Definition | A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. |
| Synonym | angio osteohypertrophy syndrome angio-osteohypertrophy syndrome angio-osteohypertrophy syndromes angioosteohypertrophy syndrome angioosteohypertrophy syndromes angiopathies, congenital dysplastic angiopathy, congenital dysplastic cerebrofacial angiomatosis congenital dysplastic angiopathies congenital dysplastic angiopathy disease, klippel-trenaunay dysplastic angiopathies, congenital dysplastic angiopathy, congenital haemangiectatic hypertrophy hemangiectatic hypertrophy klippel syndrome trenaunay weber klippel trenaunay dis klippel trenaunay disease klippel trenaunay syndrome klippel trenaunay syndrome (disorder) klippel trenaunay weber syndrome klippel trénaunay weber syndrome klippel weber trenaunay syndrome klippel-trenaunay disease klippel-trenaunay syndrome klippel-trenaunay syndromes klippel-trenaunay-weber syndrome klippel-trenaunay-weber syndrome (disorder) klippel-trenaunay-weber syndrome [disease/finding] klippel-trénaunay-weber syndrome kts ktw syndrome ktw syndromes parkes weber syndrome syndrome klippel-trenaunay-weber syndrome webers syndrome, angio-osteohypertrophy syndrome, angioosteohypertrophy syndrome, klippel trenaunay syndrome, klippel-trenaunay syndrome, klippel-trenaunay-weber syndrome, klippel-trénaunay-weber syndrome, ktw syndromes, angio-osteohypertrophy syndromes, angioosteohypertrophy syndromes, klippel-trenaunay syndromes, ktw weber syndrome webers syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0022739 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:40) C0018916 | hemangioma | 9 C0017601 | glaucoma | 9 C0235752 | port-wine stain | 9 C0003857 | arteriovenous malformation | 5 C0034065 | pulmonary embolism | 3 C0018916 | hemangiomas | 2 C0020581 | hyphema | 2 C0149931 | migraine | 2 C0018920 | cavernous hemangioma | 2 C0014544 | epilepsy | 2 C0018920 | cavernoma | 1 C1704423 | congenital lymphedema | 1 C1621958 | glioblastoma multiforme | 1 C0085413 | autosomal dominant polycystic kidney disease | 1 C0020302 | congenital glaucoma | 1 C1096063 | intractable epilepsy | 1 C0042345 | varicose veins | 1 C0018920 | cavernous hemangiomas | 1 C0020635 | hypopituitarism | 1 C0020538 | hypertension | 1 C1263846 | attention deficit hyperactivity disorder | 1 C0029417 | osteoblastoma | 1 C0022283 | hypomelanosis of ito | 1 C0022679 | cystic kidney | 1 C0376480 | gingival enlargement | 1 C0042373 | vascular disease | 1 C0014038 | encephalitis | 1 C0042345 | varicose vein | 1 C0042373 | vascular diseases | 1 C0003081 | anisometropia | 1 C0041341 | phacomatosis | 1 C0027726 | nephrotic syndrome | 1 C0085413 | autosomal dominant polycystic kidney | 1 C0685201 | splenic hemangioma | 1 C0040053 | thrombosis | 1 C0022739 | klippel-trenaunay-weber syndrome | 1 C0027961 | naevus of ota | 1 C0263401 | cutis marmorata | 1 C0024236 | lymphedema | 1 C0020542 | pulmonary hypertension | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 94 | ACVRL1 | 2.095 | DISEASES 174 | AFP | 1.113 | DISEASES 282991 | BLOC1S2 | 3.279 | DISEASES 83605 | CCM2 | 2.82 | DISEASES 23607 | CD2AP | 1.967 | DISEASES 1003 | CDH5 | 1.129 | DISEASES 2050 | EPHB4 | 1.815 | DISEASES 2303 | FOXC2 | 2.731 | DISEASES 2623 | GATA1 | 1.074 | DISEASES 57165 | GJC2 | 2.259 | DISEASES 11146 | GLMN | 5.032 | DISEASES 9734 | HDAC9 | 1.745 | DISEASES 3481 | IGF2 | 5.495 | DISEASES 3482 | IGF2R | 1.483 | DISEASES 8517 | IKBKG | 2.186 | DISEASES 84289 | ING5 | 2.987 | DISEASES 10984 | KCNQ1OT1 | 2.086 | DISEASES 56243 | KIAA1217 | 2.394 | DISEASES 889 | KRIT1 | 3.218 | DISEASES 4855 | NOTCH4 | 1.767 | DISEASES 7025 | NR2F1 | 2.227 | DISEASES 7026 | NR2F2 | 2.029 | DISEASES 11235 | PDCD10 | 3.044 | DISEASES 5627 | PROS1 | 2.506 | DISEASES 5906 | RAP1A | 1.898 | DISEASES 27164 | SALL3 | 3.341 | DISEASES 462 | SERPINC1 | 1.042 | DISEASES 4089 | SMAD4 | 2.099 | DISEASES 54345 | SOX18 | 3.452 | DISEASES 8831 | SYNGAP1 | 3.794 | DISEASES 7010 | TEK | 1.866 | DISEASES 7075 | TIE1 | 1.979 | DISEASES 8742 | TNFSF12 | 1.497 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 653 |
|---|---|
| Disease | angioosteohypertrophic syndrome |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs34203073 | 14961121 | 55109 | AGGF1 | umls:C0022739 | UNIPROT | These results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for KTS, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS. | 0.366634157 | 2004 | AGGF1 | 5 | 77035624 | G | A |
| rs34203073 | 16443853 | 55109 | AGGF1 | umls:C0022739 | BeFree | The findings bring into question the assertion that VG5Q, E133K is a mutation and that it causes KTS. | 0.366634157 | 2006 | AGGF1 | 5 | 77035624 | 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:0000140 | Abnormality of the menstrual cycle | 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:0001626 | Abnormality of the cardiovascular system | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001704 | Tricuspid valve prolapse | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0002814 | Abnormality of the lower limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| 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: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:37) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001528 | Hemihypertrophy | 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:0000140 | Abnormality of the menstrual cycle | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001704 | Tricuspid valve prolapse | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| 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: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:0000995 | Melanocytic nevus | 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: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:0000501 | Glaucoma | 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:0004099 | Macrodactyly | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005293 | Venous insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001180 | Oligodactyly (hands) | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000790 | Hematuria | 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:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100658 | Cellulitis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0100729 | Large face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001928 | Abnormality of coagulation | 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:0002814 | Abnormality of the lower limb | MP:0013616 | decreased volumetric bone mineral density | reduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual |
| HP:0000252 | Microcephaly | 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:0000965 | Cutis marmorata | 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 |
| Disease ID | 653 |
|---|---|
| Disease | angioosteohypertrophic syndrome |
| Case | (Waiting for update.) |