eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| infantile myofibromatosis | ||||
| Disease ID | 510 |
|---|---|
| Disease | infantile myofibromatosis |
| Definition | A condition characterized by multiple formations of myofibromas (LEIOMYOMA). |
| Synonym | [m] myofibromatosis [m] myofibromatosis (morphologic abnormality) infantile hemangiopericytoma juvenile fibromatosis multicentric myofibromatosis myofibromatoses myofibromatosis myofibromatosis (disorder) myofibromatosis (morphologic abnormality) myofibromatosis [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0206648 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 60 | ACTB | 1.037 | DISEASES 1645 | AKR1C1 | 1.92 | DISEASES 800 | CALD1 | 1.793 | DISEASES 4267 | CD99 | 1.934 | DISEASES 64764 | CREB3L2 | 2.039 | DISEASES 1490 | CTGF | 1.072 | DISEASES 83658 | DYNLRB1 | 2.813 | DISEASES 2120 | ETV6 | 3.026 | DISEASES 2130 | EWSR1 | 1.195 | DISEASES 4000 | LMNA | 1.386 | DISEASES 4151 | MB | 1.913 | DISEASES 65009 | NDRG4 | 4.095 | DISEASES 4763 | NF1 | 1.557 | DISEASES 4855 | NOTCH4 | 3.226 | DISEASES 4914 | NTRK1 | 1.296 | DISEASES 4916 | NTRK3 | 3.351 | DISEASES 10611 | PDLIM5 | 2.514 | DISEASES 728378 | POTEF | 2.39 | DISEASES 5793 | PTPRG | 3.161 | DISEASES 7010 | TEK | 1.454 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 510 |
|---|---|
| Disease | infantile myofibromatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:28) HP:0001482 | Subcutaneous nodule HP:0000929 | Abnormality of the skull HP:0002575 | Tracheoesophageal fistula HP:0001376 | Limitation of joint mobility HP:0002797 | Osteolysis HP:0008069 | Neoplasm of the skin HP:0000169 | Gingival fibromatosis HP:0005214 | Intestinal obstruction HP:0010614 | Fibroma HP:0100526 | Neoplasm of the lung HP:0003011 | Abnormality of the musculature HP:0000934 | Chondrocalcinosis HP:0200042 | Skin ulcer HP:0004374 | Hemiplegia/hemiparesis HP:0000271 | Abnormality of the face HP:0000478 | Abnormality of the eye HP:0005107 | Abnormality of the sacrum HP:0000077 | Abnormality of the kidney HP:0007400 | Irregular hyperpigmentation HP:0100242 | Sarcoma HP:0001595 | Abnormality of the hair HP:0012062 | Bone cyst HP:0003072 | Hypercalcemia HP:0002894 | Neoplasm of the pancreas HP:0002242 | Abnormality of the intestine HP:0000765 | Abnormality of the thorax HP:0100835 | Benign neoplasm of the central nervous system HP:0000944 | Abnormality of the metaphyses |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 510 |
|---|---|
| Disease | infantile myofibromatosis |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs144050370 | NA | 5159 | PDGFRB | umls:C0432284 | CLINVAR | NA | 0.361085767 | NA | PDGFRB | 5 | 150124295 | G | T |
| rs144050370 | 23731542 | 5159 | PDGFRB | umls:C0432284 | UNIPROT | Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. | 0.361085767 | 2013 | PDGFRB | 5 | 150124295 | G | T |
| rs367543285 | NA | 4854 | NOTCH3 | umls:C0432284 | CLINVAR | NA | 0.240271442 | NA | NOTCH3 | 19 | 15174248 | A | G |
| rs367543286 | NA | 5159 | PDGFRB | umls:C0432284 | CLINVAR | NA | 0.361085767 | NA | PDGFRB | 5 | 150125571 | 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:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0012062 | Bone cyst | MP:0003414 | epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| HP:0000478 | Abnormality of the eye | 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:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003011 | Abnormality of the musculature | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0005107 | Abnormality of the sacrum | 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:0002242 | Abnormality of the intestine | MP:0004497 | decreased organ of Corti supporting cell number | decreased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti |
| HP:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0100835 | Benign neoplasm of the central nervous system | MP:0003125 | abnormal septation of the cloaca | absence of or reduction in the separation of the single opening of the digestive, urinary, and reproductive tracts (cloaca) into multiple isolated openings during development, may result in hypospadia, reduced anogenital distance, or persistent cloaca |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0002894 | Neoplasm of the pancreas | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:28) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012062 | Bone cyst | 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:0001595 | Abnormality of the hair | 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:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0004374 | Hemiplegia/hemiparesis | 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:0003011 | Abnormality of the musculature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000929 | Abnormality of the skull | 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:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0000934 | Chondrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002894 | Neoplasm of the pancreas | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0005107 | Abnormality of the sacrum | 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:0100835 | Benign neoplasm of the central nervous system | MP:0011865 | abnormal podocyte motility | any anomaly in the ability of podocyte foot processes (FPs) to retract or elongate and hence move quickly along the glomerular basement membrane (GBM); motility refers to the dynamic reorganization of the interdigitating FP structure in vivo , and to the |
| 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:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002575 | Tracheoesophageal fistula | 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:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002242 | Abnormality of the intestine | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010614 | Fibroma | 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:0100526 | Neoplasm of the lung | 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:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000169 | Gingival fibromatosis | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| Disease ID | 510 |
|---|---|
| Disease | infantile myofibromatosis |
| Case | (Waiting for update.) |