eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bannayan-riley-ruvalcaba syndrome | ||||
| Disease ID | 610 |
|---|---|
| Disease | bannayan-riley-ruvalcaba syndrome |
| Definition | A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. |
| Synonym | bannayan riley ruvalcaba syndrome bannayan syndrome bannayan syndrome (disorder) bannayan zonana syndrome bannayan-ruvalcaba-riley syndrome bannayan-zonana syndrome brrs bzs haemangiomata with macrocephaly and pseudopapilloedema hemangiomata with macrocephaly and pseudopapilledema macrocephaly with multiple lipomas and haemangiomas macrocephaly with multiple lipomas and hemangiomas macrocephaly, multiple lipomas, and hemangiomata macrocephaly, pseudopapilledema, and multiple hemangiomas macrocephaly, pseudopapilledema, and multiple hemangiomata myhre riley smith syndrome myhre-riley-smith syndrome riley smith syndrome riley-smith syndrome riley-smith syndrome (disorder) rmss ruvalcaba myhre smith syndrome ruvalcaba-myhre syndrome ruvalcaba-myhre syndrome (disorder) ruvalcaba-myhre syndrome [ambiguous] ruvalcaba-myhre-smith syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0265326 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 672 | BRCA1 | 1.307 | DISEASES 675 | BRCA2 | 1.015 | DISEASES 1785 | DNM2 | 1.036 | DISEASES 2159 | F10 | 1.354 | DISEASES 56704 | JPH1 | 2.815 | DISEASES 116372 | LYPD1 | 4.482 | DISEASES 9562 | MINPP1 | 3.649 | DISEASES 4595 | MUTYH | 1.271 | DISEASES 5378 | PMS1 | 1.298 | DISEASES 5728 | PTEN | 6.41 | DISEASES 4089 | SMAD4 | 3.797 | DISEASES 6794 | STK11 | 3.379 | DISEASES 6925 | TCF4 | 1.56 | DISEASES 7329 | UBE2I | 1.971 | DISEASES 7332 | UBE2L3 | 2.492 | DISEASES 7391 | USF1 | 1.339 | DISEASES 7516 | XRCC2 | 1.172 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) PTEN | 10q23.31 |
| Disease ID | 610 |
|---|---|
| Disease | bannayan-riley-ruvalcaba syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0100026 | Arteriovenous malformation HP:0004390 | Hamartomatous polyposis HP:0200008 | Intestinal polyposis HP:0003196 | Short nose HP:0004322 | Short stature HP:0012032 | Lipoma HP:0001482 | Subcutaneous nodule HP:0001009 | Telangiectasia HP:0000587 | Abnormality of the optic nerve HP:0002858 | Meningioma HP:0003198 | Myopathy HP:0010784 | Uterine neoplasm HP:0000767 | Pectus excavatum HP:0001004 | Lymphedema HP:0000445 | Wide nose HP:0001724 | Aortic dilatation HP:0000098 | Tall stature HP:0000347 | Micrognathia HP:0000965 | Cutis marmorata HP:0009023 | Abdominal wall muscle weakness HP:0002007 | Frontal bossing HP:0100013 | Neoplasm of the breast HP:0002167 | Neurological speech impairment HP:0002250 | Abnormality of the large intestine HP:0000343 | Long philtrum HP:0005692 | Joint hyperflexibility HP:0000872 | Hashimoto thyroiditis HP:0001943 | Hypoglycemia HP:0100641 | Neoplasm of the adrenal cortex HP:0005306 | Capillary hemangiomas HP:0001681 | Angina pectoris HP:0001250 | Seizures HP:0002664 | Neoplasm HP:0000256 | Macrocephaly HP:0002665 | Lymphoma HP:0007400 | Irregular hyperpigmentation HP:0002650 | Scoliosis HP:0100761 | Visceral angiomatosis HP:0003764 | Nevus HP:0000268 | Dolichocephaly HP:0002194 | Delayed gross motor development HP:0001933 | Subcutaneous hemorrhage HP:0001249 | Intellectual disability HP:0002890 | Thyroid carcinoma HP:0004326 | Cachexia HP:0001324 | Muscle weakness HP:0002750 | Delayed skeletal maturation HP:0000463 | Anteverted nares HP:0011304 | Broad thumb HP:0000400 | Macrotia HP:0001252 | Muscular hypotonia HP:0007565 | Multiple cafe-au-lait spots HP:0000189 | Narrow palate HP:0002170 | Intracranial hemorrhage HP:0003202 | Skeletal muscle atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 610 |
|---|---|
| Disease | bannayan-riley-ruvalcaba 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909219 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87957915 | C | T |
| rs121909221 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87952135 | T | A |
| rs121909224 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87933147 | C | G,T |
| rs121909227 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87957858 | C | T |
| rs121909228 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87957984 | G | T |
| rs121909231 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87961095 | C | T |
| rs397515374 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | NA | NA | NA | NA | NA |
| rs587776670 | NA | 5728 | PTEN | umls:C0265326 | CLINVAR | NA | 0.454386419 | NA | PTEN | 10 | 87952211 | C | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001933 | Subcutaneous hemorrhage | MP:0011437 | glomerulus hemorrhage | bleeding in the renal glomerulus |
| HP:0002170 | Intracranial hemorrhage | MP:0006203 | eye hemorrhage | bleeding into the eye |
| HP:0100013 | Neoplasm of the breast | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0002890 | Thyroid carcinoma | MP:0003331 | increased hepatocellular carcinoma incidence | greater than the expected number of a malignant neoplasm arising from liver cells, usually in adults and caused by liver trauma due to disease or injury, occurring in a specific population in a given time period |
| HP:0002194 | Delayed gross motor development | MP:0011165 | abnormal tooth root development | aberrant or incomplete formation of the part of a tooth that is implanted in the gum; the root is normally located below the neck of the tooth, covered by cementum rather than enamel, and attached by the periodontal ligament to the alveolar bone |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0100641 | Neoplasm of the adrenal cortex | MP:0004097 | abnormal cerebellar cortex morphology | any structural anomaly of the thin mantle of grey matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of co |
| HP:0009023 | Abdominal wall muscle weakness | MP:0010996 | increased aorta wall thickness | increased depth of the part of the aorta that encloses the luminal space |
| HP:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| HP:0000587 | Abnormality of the optic nerve | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:54) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002890 | Thyroid carcinoma | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0100641 | Neoplasm of the adrenal cortex | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| 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:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004322 | Short stature | 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: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:0004326 | Cachexia | 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: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:0002194 | Delayed gross motor development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001009 | Telangiectasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0010784 | Uterine 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:0000445 | Wide nose | 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:0000189 | Narrow palate | 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:0009023 | Abdominal wall muscle weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0001724 | Aortic dilatation | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005306 | Capillary hemangiomas | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| 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:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007400 | Irregular hyperpigmentation | 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:0001249 | Intellectual disability | 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:0003764 | Nevus | 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:0012032 | Lipoma | 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:0002665 | Lymphoma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000587 | Abnormality of the optic nerve | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| 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:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004390 | Hamartomatous 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:0001933 | Subcutaneous hemorrhage | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000872 | Hashimoto thyroiditis | 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:0011304 | Broad thumb | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002170 | Intracranial hemorrhage | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002007 | Frontal bossing | 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:0100013 | Neoplasm of the breast | 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: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:0001681 | Angina pectoris | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002858 | Meningioma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 610 |
|---|---|
| Disease | bannayan-riley-ruvalcaba syndrome |
| Case | (Waiting for update.) |