eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neurofibroma | ||||
| Disease ID | 367 |
|---|---|
| Disease | neurofibroma |
| Definition | A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) |
| Synonym | [m]neurofibroma nos [m]neurofibroma nos (morphologic abnormality) [m]neurofibromas neurofibroma (disorder) neurofibroma (morphologic abnormality) neurofibroma (who grade i) neurofibroma [disease/finding] neurofibroma, benign neurofibroma, no icd-o subtype neurofibroma, no icd-o subtype (morphologic abnormality) neurofibroma, no international classification of diseases for oncology subtype neurofibroma, no international classification of diseases for oncology subtype (morphologic abnormality) neurofibroma, nos neurofibromas |
| Orphanet | |
| DOID | |
| UMLS | C0027830 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0085113 | neurofibromatosis | 42 C0751690 | malignant peripheral nerve sheath tumor | 4 C0015464 | facial palsy | 2 C0027831 | von recklinghausen disease | 2 C0035078 | renal failure | 2 C0022354 | obstructive jaundice | 1 C0242350 | erectile dysfunction | 1 C0334440 | giant congenital nevus | 1 C0376358 | prostate cancer | 1 C0029408 | osteoarthritis | 1 C0006142 | breast cancer | 1 C0024623 | gastric cancer | 1 C0349530 | early gastric cancer | 1 C0031117 | peripheral neuropathy | 1 C0022679 | cystic kidney | 1 C0085413 | autosomal dominant polycystic kidney | 1 C0012813 | diverticulitis | 1 C0030486 | paraplegia | 1 C0085413 | autosomal dominant polycystic kidney disease | 1 C0022661 | chronic renal failure | 1 C0007286 | carpal tunnel syndrome | 1 C0442874 | neuropathy | 1 C0005745 | ptosis | 1 C1261473 | sarcomas | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:52) 55803 | ADAP2 | 3.332 | DISEASES 55107 | ANO1 | 1.404 | DISEASES 57492 | ARID1B | 1.187 | DISEASES 1029 | CDKN2A | 2.839 | DISEASES 100048912 | CDKN2B-AS1 | 1.771 | DISEASES 548596 | CKMT1A | 1.055 | DISEASES 387836 | CLEC2A | 1.735 | DISEASES 1267 | CNP | 1.362 | DISEASES 64764 | CREB3L2 | 3.215 | DISEASES 29119 | CTNNA3 | 1.302 | DISEASES 1832 | DSP | 1.321 | DISEASES 2124 | EVI2B | 2.496 | DISEASES 346007 | EYS | 1.373 | DISEASES 2173 | FABP7 | 1.096 | DISEASES 26762 | HAVCR1 | 2.157 | DISEASES 23072 | HECW1 | 2.563 | DISEASES 3609 | ILF3 | 1.459 | DISEASES 3645 | INSRR | 1.955 | DISEASES 84678 | KDM2B | 1.764 | DISEASES 3831 | KLC1 | 1.316 | DISEASES 3850 | KRT3 | 1.368 | DISEASES 3985 | LIMK2 | 1.546 | DISEASES 114659 | LRRC37B | 2.969 | DISEASES 4113 | MAGEB2 | 1.91 | DISEASES 4155 | MBP | 1.514 | DISEASES 4192 | MDK | 2.269 | DISEASES 4193 | MDM2 | 1.126 | DISEASES 2315 | MLANA | 3.05 | DISEASES 4601 | MXI1 | 1.442 | DISEASES 4751 | NEK2 | 1.175 | DISEASES 4763 | NF1 | 7.753 | DISEASES 4771 | NF2 | 5.114 | DISEASES 4782 | NFIC | 5.124 | DISEASES 4803 | NGF | 1.956 | DISEASES 3084 | NRG1 | 2.023 | DISEASES 149830 | PRNT | 1.831 | DISEASES 5796 | PTPRK | 1.705 | DISEASES 6277 | S100A6 | 1.321 | DISEASES 6280 | S100A9 | 1.141 | DISEASES 6392 | SDHD | 1.07 | DISEASES 10505 | SEMA4F | 2.543 | DISEASES 3177 | SLC29A2 | 1.233 | DISEASES 6513 | SLC2A1 | 2.835 | DISEASES 23583 | SMUG1 | 2.296 | DISEASES 6663 | SOX10 | 2.727 | DISEASES 79736 | TEFM | 3.483 | DISEASES 7088 | TLE1 | 1.131 | DISEASES 7163 | TPD52 | 1.203 | DISEASES 10381 | TUBB3 | 1.437 | DISEASES 127933 | UHMK1 | 1.131 | DISEASES 7391 | USF1 | 1.239 | DISEASES 7757 | ZNF208 | 2.575 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 367 |
|---|---|
| Disease | neurofibroma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs200372028 | 18766994 | 4771 | NF2 | umls:C0027830 | BeFree | Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. | 0.000542884 | 2008 | NF2 | 22 | 29668430 | 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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000403 | Recurrent otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0012645 | Enlarged peripheral nerve | MP:0002651 | abnormal sciatic nerve morphology | any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity |
| 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:0009732 | Plexiform neurofibroma | MP:0010314 | increased neurofibroma incidence | greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers |
| HP:0001291 | Abnormality of the cranial nerves | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0011801 | Enlargement of parotid gland | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0003416 | Spinal canal stenosis | MP:0010884 | esophagus stenosis | abnormal narrowing or constriction of the esophagus |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0009732 | Plexiform neurofibroma | 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:0011801 | Enlargement of parotid gland | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001291 | Abnormality of the cranial nerves | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0100698 | Subcutaneous neurofibromas | 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:0009735 | Spinal neurofibromas | 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:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009593 | Peripheral Schwannoma | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0000403 | Recurrent otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001067 | Neurofibromas | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0012645 | Enlarged peripheral nerve | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006751 | Paraspinal neurofibromas | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010609 | Skin tags | 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:0007576 | Palmar neurofibromas | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0002584 | Intestinal bleeding | MP:0013328 | visceromegaly | abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas |
| 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:0003406 | Peripheral nerve compression | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| 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:0006851 | Symmetric spinal nerve root neurofibromas | 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:0007470 | Periarticular subcutaneous nodules | MP:0012232 | abnormal ceramide level | |
| Disease ID | 367 |
|---|---|
| Disease | neurofibroma |
| Case | (Waiting for update.) |