PedAM
Pediatric Disease Annotations & Medicines
| plexiform neurofibroma | ||||
| Disease ID | 1270 |
|---|---|
| Disease | plexiform neurofibroma |
| Definition | A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82) |
| Synonym | elephantiasis neuromatoses elephantiasis neuromatosis neurofibroma plexiform neurofibroma, plexiform neurofibroma, plexiform [disease/finding] neurofibromas, plexiform neuroma, plexiform neuromas, plexiform pachydermatocele pachydermatoceles plexiform neurofibroma (disorder) plexiform neurofibroma (morphologic abnormality) plexiform neurofibromas plexiform neuroma plexiform neuromas tumor royale |
| DOID | |
| UMLS | C0206728 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0085113 | neurofibromatosis | 14 C0017547 | gigantism | 1 C0334440 | giant congenital nevus | 1 C0751690 | malignant peripheral nerve sheath tumor | 1 C0027830 | neurofibroma | 1 C0022661 | chronic renal failure | 1 C0005745 | ptosis | 1 C0007286 | carpal tunnel syndrome | 1 C0027809 | schwannoma | 1 C0035078 | renal failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:39) 8839 | WISP2 | DISEASES 4254 | KITLG | DISEASES 2735 | GLI1 | DISEASES 2026 | ENO2 | DISEASES 5918 | RARRES1 | DISEASES 1846 | DUSP4 | DISEASES 8840 | WISP1 | DISEASES 2670 | GFAP | DISEASES 4856 | NOV | DISEASES 5687 | PSMA6 | DISEASES 7157 | TP53 | DISEASES 3145 | HMBS | DISEASES 288 | ANK3 | DISEASES 701 | BUB1B | DISEASES 3815 | KIT | DISEASES 4760 | NEUROD1 | DISEASES 161742 | SPRED1 | DISEASES 55872 | PBK | DISEASES 947 | CD34 | DISEASES 6712 | SPTBN2 | DISEASES 23512 | SUZ12 | DISEASES 23583 | SMUG1 | DISEASES 4771 | NF2 | DISEASES 3084 | NRG1 | DISEASES 1612 | DAPK1 | DISEASES 4763 | NF1 | DISEASES 6663 | SOX10 | DISEASES 4751 | NEK2 | DISEASES 84678 | KDM2B | DISEASES 4113 | MAGEB2 | DISEASES 7163 | TPD52 | DISEASES 2235 | FECH | DISEASES 7757 | ZNF208 | DISEASES 1029 | CDKN2A | DISEASES 387836 | CLEC2A | DISEASES 3491 | CYR61 | DISEASES 27113 | BBC3 | DISEASES 6513 | SLC2A1 | DISEASES 4782 | NFIC | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1270 |
|---|---|
| Disease | plexiform neurofibroma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0001067 | Neurofibromas | 14 HP:0002664 | Neoplasia | 2 HP:0100697 | Neurofibrosarcoma | 1 HP:0003764 | Naevus | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0001480 | Freckling | 1 HP:0000324 | Asymmetry of face | 1 HP:0100008 | Schwann cell tumour | 1 HP:0003774 | End-stage renal failure | 1 HP:0000767 | Funnel chest | 1 HP:0000083 | Renal insufficiency | 1 HP:0009737 | Lisch nodules | 1 |
| Disease ID | 1270 |
|---|---|
| Disease | plexiform neurofibroma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0206728 | thalidomide | D013792 | 50-35-1 | neurofibroma, plexiform | MESH:D018318 | therapeutic | 12525736 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |