PedAM

Pediatric Disease Annotations & Medicines


	acoustic neuroma

Disease ID	343
Disease	acoustic neuroma
Definition	A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)
Synonym	acoustic neurilemmoma acoustic neurilemmomas acoustic neurilemoma acoustic neurilemomas acoustic neurinoma acoustic neurinomas acoustic neuroma (disorder) acoustic neuroma - acoustic neuroma brain tumor acoustic neuromas acoustic schwannoma acoustic schwannomas acoustic tumor acoustic tumors an - acoustic neuroma brain tumor, acoustic neuroma intracranial neoplasm, acoustic neuroma neurilemmoma, acoustic neurilemmomas, acoustic neurilemoma, acoustic neurilemomas, acoustic neurinoma of the acoustic nerve neurinoma, acoustic neurinomas, acoustic neurofibroma, acoustic neuroma - acoustic neuroma, acoustic neuroma, acoustic [disease/finding] neuromas, acoustic schwannoma vestibular schwannoma, acoustic schwannoma, vestibular schwannomas, acoustic schwannomas, vestibular tumor, acoustic tumors, acoustic vestibular neurilemmoma vestibular neurinoma vestibular neurolemmoma vestibular schwann cell tumor vestibular schwannoma vestibular schwannoma (disorder) vestibular schwannomas
Orphanet	ORPHANET:252175
DOID	DOID:12689
UMLS	C0027859
MeSH	D009464
SNOMED-CT	SNOMEDCT_US_2016_09_01:126949007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0376175 \| bell's palsy \| 1 C0078981 \| arachnoid cysts \| 1 C0018784 \| sensorineural hearing loss \| 1 C0015464 \| facial palsy \| 1 C0085113 \| neurofibromatosis \| 1 C0015469 \| facial nerve paralysis \| 1 C0020255 \| hydrocephalus \| 1 C0078981 \| arachnoid cyst \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) NF2 \| 4771 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4771 \| NF2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:128) 2288 \| FKBP4 \| DISEASES 4804 \| NGFR \| DISEASES 359 \| AQP2 \| DISEASES 8216 \| LZTR1 \| DISEASES 1690 \| COCH \| DISEASES 7040 \| TGFB1 \| DISEASES 2057 \| EPOR \| DISEASES 595 \| CCND1 \| DISEASES 5829 \| PXN \| DISEASES 2735 \| GLI1 \| DISEASES 4057 \| LTF \| DISEASES 6549 \| SLC9A2 \| DISEASES 56829 \| ZC3HAV1 \| DISEASES 1959 \| EGR2 \| DISEASES 84329 \| HVCN1 \| DISEASES 4246 \| SCGB2A1 \| DISEASES 6299 \| SALL1 \| DISEASES 2947 \| GSTM3 \| DISEASES 902 \| CCNH \| DISEASES 51050 \| PI15 \| DISEASES 59341 \| TRPV4 \| DISEASES 6558 \| SLC12A2 \| DISEASES 9739 \| SETD1A \| DISEASES 6132 \| RPL8 \| DISEASES 27443 \| CECR2 \| DISEASES 9132 \| KCNQ4 \| DISEASES 10133 \| OPTN \| DISEASES 6598 \| SMARCB1 \| DISEASES 1950 \| EGF \| DISEASES 5172 \| SLC26A4 \| DISEASES 51411 \| BIN2 \| DISEASES 6601 \| SMARCC2 \| DISEASES 2065 \| ERBB3 \| DISEASES 6751 \| SSTR1 \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 56006 \| SMG9 \| DISEASES 207 \| AKT1 \| DISEASES 388 \| RHOB \| DISEASES 1956 \| EGFR \| DISEASES 823 \| CAPN1 \| DISEASES 738 \| VPS51 \| DISEASES 22934 \| RPIA \| DISEASES 5152 \| PDE9A \| DISEASES 8566 \| PDXK \| DISEASES 3889 \| KRT83 \| DISEASES 134147 \| CMBL \| DISEASES 222962 \| SLC29A4 \| DISEASES 5346 \| PLIN1 \| DISEASES 9101 \| USP8 \| DISEASES 4902 \| NRTN \| DISEASES 2237 \| FEN1 \| DISEASES 23450 \| SF3B3 \| DISEASES 2243 \| FGA \| DISEASES 2072 \| ERCC4 \| DISEASES 358 \| AQP1 \| DISEASES 5151 \| PDE8A \| DISEASES 83787 \| ARMC10 \| DISEASES 6819 \| SULT1C2 \| DISEASES 363 \| AQP6 \| DISEASES 8289 \| ARID1A \| DISEASES 6817 \| SULT1A1 \| DISEASES 3039 \| HBA1 \| DISEASES 5241 \| PGR \| DISEASES 6753 \| SSTR3 \| DISEASES 5155 \| PDGFB \| DISEASES 5271 \| SERPINB8 \| DISEASES 51004 \| COQ6 \| DISEASES 25788 \| RAD54B \| DISEASES 2042 \| EPHA3 \| DISEASES 10011 \| SRA1 \| DISEASES 554 \| AVPR2 \| DISEASES 113675 \| SDSL \| DISEASES 10181 \| RBM5 \| DISEASES 92399 \| MRRF \| DISEASES 20 \| ABCA2 \| DISEASES 4771 \| NF2 \| DISEASES 5144 \| PDE4D \| DISEASES 2551 \| GABPA \| DISEASES 2073 \| ERCC5 \| DISEASES 4698 \| NDUFA5 \| DISEASES 4763 \| NF1 \| DISEASES 8936 \| WASF1 \| DISEASES 25937 \| WWTR1 \| DISEASES 284129 \| SLC26A11 \| DISEASES 23493 \| HEY2 \| DISEASES 9446 \| GSTO1 \| DISEASES 51684 \| SUFU \| DISEASES 51750 \| RTEL1 \| DISEASES 4923 \| NTSR1 \| DISEASES 1791 \| DNTT \| DISEASES 7422 \| VEGFA \| DISEASES 1907 \| EDN2 \| DISEASES 6709 \| SPTAN1 \| DISEASES 5453 \| POU3F1 \| DISEASES 5456 \| POU3F4 \| DISEASES 400746 \| NCMAP \| DISEASES 114769 \| CARD16 \| DISEASES 7161 \| TP73 \| DISEASES 2592 \| GALT \| DISEASES 192668 \| CYS1 \| DISEASES 10568 \| SLC34A2 \| DISEASES 64754 \| SMYD3 \| DISEASES 9244 \| CRLF1 \| DISEASES 65010 \| SLC26A6 \| DISEASES 79924 \| ADM2 \| DISEASES 1286 \| COL4A4 \| DISEASES 29998 \| GLTSCR1 \| DISEASES 4338 \| MOCS2 \| DISEASES 1415 \| CRYBB2 \| DISEASES 210 \| ALAD \| DISEASES 9048 \| ARTN \| DISEASES 2674 \| GFRA1 \| DISEASES 1875 \| E2F5 \| DISEASES 960 \| CD44 \| DISEASES 2668 \| GDNF \| DISEASES 51555 \| PEX5L \| DISEASES 5164 \| PDK2 \| DISEASES 83697 \| SLC4A9 \| DISEASES 100423062 \| IGLL5 \| DISEASES 996 \| CDC27 \| DISEASES 10846 \| PDE10A \| DISEASES 83695 \| RHNO1 \| DISEASES 8284 \| KDM5D \| DISEASES 4782 \| NFIC \| DISEASES 102723508 \| KANTR \| DISEASES 440900 \| LINC01191 \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	343
Disease	acoustic neuroma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0000360 \| Ringing in the ears \| 5 HP:0002315 \| Headaches \| 3 HP:0010628 \| Facial palsy, unilateral or bilateral \| 3 HP:0000365 \| Hearing impairment \| 1 HP:0009900 \| Unilateral deafness \| 1 HP:0003470 \| Inability to move \| 1 HP:0002317 \| Unsteady walk \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0012393 \| Allergy \| 1 HP:0001730 \| Progressive hearing impairment \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002512 \| Brain stem compression \| 1

Disease ID	343
Disease	acoustic neuroma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C2364133 \| infection C2096315 \| headache C2029884 \| hearing loss C1963137 \| hydrocephalus C1550639 \| fistula C1522415 \| deafferentation C1384666 \| hearing impairment C0042571 \| rotatory vertigo C0038525 \| subarachnoid hemorrhage C0031269 \| peutz-jeghers syndrome C0025289 \| meningitis C0019080 \| hemorrhage C0015469 \| facial nerve paralysis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C1384666 \| hearing loss \| 4 C0018681 \| headache \| 3 C0015469 \| facial nerve paralysis \| 1 C0020255 \| hydrocephalus \| 1

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

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1136410	20150366	2068	ERCC2	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	PARP1	1	226367601	A	G
rs1136410	20150366	2073	ERCC5	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	PARP1	1	226367601	A	G
rs1136410	20150366	142	PARP1	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	PARP1	1	226367601	A	G
rs1695	12540498	1571	CYP2E1	umls:C0027859	BeFree	There was evidence of supermultiplicativity of the joint effect of GSTP1 I105V and CYP2E1 RsaI variants on both glioma and acoustic neuroma, even following adjustment of estimates toward a common prior distribution using hierarchical regression models.	0.000271442	2003	GSTP1	11	67585218	A	G
rs1695	12540498	2950	GSTP1	umls:C0027859	BeFree	There was evidence of supermultiplicativity of the joint effect of GSTP1 I105V and CYP2E1 RsaI variants on both glioma and acoustic neuroma, even following adjustment of estimates toward a common prior distribution using hierarchical regression models.	0.000271442	2003	GSTP1	11	67585218	A	G
rs17655	20150366	2068	ERCC2	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs17655	20150366	142	PARP1	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs17655	20150366	2073	ERCC5	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs1799793	20150366	2068	ERCC2	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC2	19	45364001	C	T
rs1799793	20150366	142	PARP1	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC2	19	45364001	C	T
rs1799793	20150366	2073	ERCC5	umls:C0027859	BeFree	Risk of acoustic neuroma was increased for the ERCC2 rs1799793 (P(trend) .03) and ERCC5 rs17655 (P(trend) .05) variants and decreased for the PARP1 rs1136410 (P(trend) .03).	0.002638474	2010	ERCC2	19	45364001	C	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)
(Waiting for update.)

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