PedAM

Pediatric Disease Annotations & Medicines


	neurofibroma

Disease ID	213
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	ORPHANET:252183
DOID	DOID:962
UMLS	C0027830
MeSH	D009455
SNOMED-CT	SNOMEDCT_US_2016_09_01:404029005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0085113 \| neurofibromatosis \| 19 C0751690 \| malignant peripheral nerve sheath tumor \| 4 C0027809 \| schwannoma \| 2 C0242350 \| erectile dysfunction \| 1 C0376358 \| prostate cancer \| 1 C0334440 \| giant congenital nevus \| 1 C0349530 \| early gastric cancer \| 1 C0024623 \| gastric cancer \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0022354 \| obstructive jaundice \| 1 C0030486 \| paraplegia \| 1 C0029408 \| osteoarthritis \| 1 C0027831 \| von recklinghausen disease \| 1 C0012813 \| diverticulitis \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0017547 \| gigantism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NF1 \| 4763 \| CTD_human SUZ12 \| 23512 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4763 \| NF1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:110) 100048912 \| CDKN2B-AS1 \| DISEASES 4826 \| NNAT \| DISEASES 4804 \| NGFR \| DISEASES 8839 \| WISP2 \| DISEASES 4504 \| MT3 \| DISEASES 40 \| ASIC2 \| DISEASES 4254 \| KITLG \| DISEASES 2735 \| GLI1 \| DISEASES 2026 \| ENO2 \| DISEASES 5918 \| RARRES1 \| DISEASES 2123 \| EVI2A \| DISEASES 4974 \| OMG \| DISEASES 968 \| CD68 \| DISEASES 8840 \| WISP1 \| DISEASES 9253 \| NUMBL \| DISEASES 9113 \| LATS1 \| DISEASES 2670 \| GFAP \| DISEASES 1160 \| CKMT2 \| DISEASES 23135 \| KDM6B \| DISEASES 8546 \| AP3B1 \| DISEASES 5156 \| PDGFRA \| DISEASES 4856 \| NOV \| DISEASES 84692 \| CCDC54 \| DISEASES 55813 \| UTP6 \| DISEASES 10133 \| OPTN \| DISEASES 6598 \| SMARCB1 \| DISEASES 4438 \| MSH4 \| DISEASES 6855 \| SYP \| DISEASES 4811 \| NID1 \| DISEASES 5593 \| PRKG2 \| DISEASES 2247 \| FGF2 \| DISEASES 25759 \| SHC2 \| DISEASES 1950 \| EGF \| DISEASES 50846 \| DHH \| DISEASES 7157 \| TP53 \| DISEASES 1030 \| CDKN2B \| DISEASES 288 \| ANK3 \| DISEASES 651 \| BMP3 \| DISEASES 7345 \| UCHL1 \| DISEASES 6750 \| SST \| DISEASES 3815 \| KIT \| DISEASES 6285 \| S100B \| DISEASES 6271 \| S100A1 \| DISEASES 117159 \| DCD \| DISEASES 10630 \| PDPN \| DISEASES 4286 \| MITF \| DISEASES 161742 \| SPRED1 \| DISEASES 1152 \| CKB \| DISEASES 1159 \| CKMT1B \| DISEASES 794 \| CALB2 \| DISEASES 27087 \| B3GAT1 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 6712 \| SPTBN2 \| DISEASES 80227 \| PAAF1 \| DISEASES 84440 \| RAB11FIP4 \| DISEASES 79915 \| ATAD5 \| DISEASES 23512 \| SUZ12 \| DISEASES 51379 \| CRLF3 \| DISEASES 149830 \| PRNT \| DISEASES 64764 \| CREB3L2 \| DISEASES 55803 \| ADAP2 \| DISEASES 4601 \| MXI1 \| DISEASES 2124 \| EVI2B \| DISEASES 23583 \| SMUG1 \| DISEASES 3985 \| LIMK2 \| DISEASES 114659 \| LRRC37B \| DISEASES 57492 \| ARID1B \| DISEASES 4771 \| NF2 \| DISEASES 26762 \| HAVCR1 \| DISEASES 55107 \| ANO1 \| DISEASES 3084 \| NRG1 \| DISEASES 3177 \| SLC29A2 \| DISEASES 10505 \| SEMA4F \| DISEASES 4763 \| NF1 \| DISEASES 4192 \| MDK \| DISEASES 6663 \| SOX10 \| DISEASES 4751 \| NEK2 \| DISEASES 7391 \| USF1 \| DISEASES 3645 \| INSRR \| DISEASES 5796 \| PTPRK \| DISEASES 2173 \| FABP7 \| DISEASES 6277 \| S100A6 \| DISEASES 6280 \| S100A9 \| DISEASES 4803 \| NGF \| DISEASES 29119 \| CTNNA3 \| DISEASES 6392 \| SDHD \| DISEASES 7088 \| TLE1 \| DISEASES 84678 \| KDM2B \| DISEASES 4113 \| MAGEB2 \| DISEASES 7163 \| TPD52 \| DISEASES 1832 \| DSP \| DISEASES 2315 \| MLANA \| DISEASES 4155 \| MBP \| DISEASES 1267 \| CNP \| DISEASES 23072 \| HECW1 \| DISEASES 7757 \| ZNF208 \| DISEASES 1029 \| CDKN2A \| DISEASES 387836 \| CLEC2A \| DISEASES 3609 \| ILF3 \| DISEASES 548596 \| CKMT1A \| DISEASES 3850 \| KRT3 \| DISEASES 3831 \| KLC1 \| DISEASES 6513 \| SLC2A1 \| DISEASES 4193 \| MDM2 \| DISEASES 127933 \| UHMK1 \| DISEASES 346007 \| EYS \| DISEASES 10381 \| TUBB3 \| DISEASES 79736 \| TEFM \| DISEASES 4782 \| NFIC \| DISEASES
Locus	(Waiting for update.)

Disease ID	213
Disease	neurofibroma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:28) HP:0100527 \| Neoplasia of the pleura HP:0100010 \| Spinal meningioma HP:0012645 \| Enlarged peripheral nerve HP:0007524 \| Atypical neurofibromatosis HP:0009735 \| Spinal neurofibromas HP:0000403 \| Recurrent otitis media HP:0002751 \| Kyphoscoliosis HP:0003416 \| Spinal canal stenosis HP:0000995 \| Melanocytic nevus HP:0007576 \| Palmar neurofibromas HP:0005220 \| Multiple intestinal neurofibromatosis HP:0000256 \| Macrocephaly HP:0006851 \| Symmetric spinal nerve root neurofibromas HP:0003406 \| Peripheral nerve compression HP:0010609 \| Skin tags HP:0007470 \| Periarticular subcutaneous nodules HP:0011801 \| Enlargement of parotid gland HP:0009732 \| Plexiform neurofibroma HP:0009593 \| Peripheral Schwannoma HP:0012289 \| Facial neoplasm HP:0001067 \| Neurofibromas HP:0100698 \| Subcutaneous neurofibromas HP:0001291 \| Abnormality of the cranial nerves HP:0012440 \| Abnormal biliary tract morphology HP:0100551 \| Neoplasm of the trachea HP:0006751 \| Paraspinal neurofibromas HP:0002584 \| Intestinal bleeding HP:0100013 \| Neoplasm of the breast
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0001067 \| Neurofibromas \| 19 HP:0002664 \| Neoplasia \| 12 HP:0100697 \| Neurofibrosarcoma \| 4 HP:0100008 \| Schwann cell tumour \| 2 HP:0030157 \| Flank pain \| 1 HP:0100699 \| Scarring \| 1 HP:0002282 \| Heterotopias \| 1 HP:0000952 \| Yellow skin \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0010550 \| Paraplegia \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0002084 \| Bifid skull \| 1 HP:0003764 \| Naevus \| 1 HP:0012531 \| Pain \| 1 HP:0000767 \| Funnel chest \| 1 HP:0000802 \| Erectile dysfunction \| 1 HP:0002827 \| Hip dislocation \| 1 HP:0012151 \| Hemothorax \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0008843 \| Hip osteoarthritis \| 1 HP:0011854 \| Hemoperitoneum \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0040184 \| Oral hemorrhage \| 1

Disease ID	213
Disease	neurofibroma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1608408 \| malignant transformation C0221262 \| poliosis C0038525 \| subarachnoid hemorrhage C0019080 \| hemorrhage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C1608408 \| malignant transformation \| 4 C0019080 \| hemorrhage \| 1

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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