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	neurofibromatosis 2

Disease ID	92
Disease	neurofibromatosis 2
Definition	An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Synonym	acoustic neurofibromatoses, bilateral acoustic neurofibromatosis acoustic neurofibromatosis, bilateral banf banf - bilateral acoustic neurofibromatosis bilateral acoustic neurofibromatoses bilateral acoustic neurofibromatosis central neurofibromatoses central neurofibromatosis central nf2 neurofibromatoses central nf2 neurofibromatosis familial acoustic neuroma familial vestibular schwannoma neurofibromatoses, bilateral acoustic neurofibromatoses, central neurofibromatoses, central nf2 neurofibromatoses, type 2 neurofibromatoses, type ii neurofibromatosis 2 (disorder) neurofibromatosis 2 [disease/finding] neurofibromatosis a 02 neurofibromatosis central nf 02 neurofibromatosis ii neurofibromatosis iis neurofibromatosis typ ii neurofibromatosis type 2 neurofibromatosis type 2 (disorder) neurofibromatosis type 2 (nf2) neurofibromatosis type ii neurofibromatosis, acoustic, bilateral neurofibromatosis, bilateral acoustic neurofibromatosis, central neurofibromatosis, central nf2 neurofibromatosis, central type neurofibromatosis, central, nf 2 neurofibromatosis, central, nf2 neurofibromatosis, type 2 neurofibromatosis, type 2 (disorder) neurofibromatosis, type 2 [acoustic neurofibromatosis] neurofibromatosis, type ii nf2 nf2 (neurofibromatosis 2) nf2s (neurofibromatosis 2) type 2 neurofibromatoses type 2 neurofibromatosis type ii neurofibromatoses type ii neurofibromatosis
Orphanet	ORPHANET:637
OMIM	OMIM:101000 OMIM:607379
DOID	DOID:8712
ICD10	ICD10CM:Q85.02
UMLS	C0027832
MeSH	D016518
SNOMED-CT	SNOMEDCT_US_2016_09_01:92503002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0027859 \| vestibular schwannoma \| 18 C0027809 \| schwannoma \| 10 C0027859 \| vestibular schwannomas \| 9 C0025286 \| meningioma \| 4 C0025286 \| meningiomas \| 3 C0027859 \| acoustic neuroma \| 2 C0027766 \| nervous system tumors \| 2 C0040997 \| trigeminal neuralgia \| 1 C0030353 \| papilledema \| 1 C0002726 \| amyloidosis \| 1 C0206728 \| plexiform neurofibroma \| 1 C0027859 \| acoustic neuromas \| 1 C0031117 \| peripheral neuropathies \| 1 C0018784 \| sensorineural deafness \| 1 C0349604 \| intracranial meningioma \| 1 C0017150 \| gastrinoma \| 1 C1290398 \| cerebral artery aneurysm \| 1 C0027858 \| neuromas \| 1 C0038220 \| status epilepticus \| 1 C0155550 \| neural deafness \| 1 C0349604 \| intracranial meningiomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4771 \| NF2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4771 \| NF2 \| CIPHER;CTD_human
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	92
Disease	neurofibromatosis 2
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0009588 \| Vestibular Schwannoma \| 22 HP:0100008 \| Schwann cell tumour \| 11 HP:0002664 \| Neoplasia \| 5 HP:0009589 \| Bilateral vestibular Schwannoma \| 4 HP:0002858 \| Mengiomia \| 4 HP:0000365 \| Hearing impairment \| 4 HP:0002888 \| Ependymoma \| 3 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0008619 \| Bilateral sensorineural hearing impairment \| 1 HP:0100661 \| Trigeminal neuralgia \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0100009 \| Intracranial meningioma \| 1 HP:0001085 \| Papilledema \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0009732 \| Plexiform neurofibroma \| 1 HP:0009590 \| Unilateral vestibular Schwannoma \| 1

Disease ID	92
Disease	neurofibromatosis 2
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C1963137 \| hydrocephalus C1510497 \| lens opacity C1510497 \| lens opacities C0521158 \| recurrent tumour C0152025 \| polyneuropathy C0086543 \| cataracts C0037939 \| spinal canal tumors C0037268 \| skin abnormalities C0027859 \| vestibular schwannomas C0027859 \| acoustic neuromas C0027859 \| acoustic neurinoma C0027809 \| schwannomas C0027809 \| schwannoma C0027809 \| neurinoma C0027766 \| nervous system tumors C0026846 \| amyotrophy C0025286 \| meningiomas C0019079 \| hemoptysis C0018552 \| hamartomas C0018552 \| hamartoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0027859 \| vestibular schwannoma \| 11 C0027859 \| vestibular schwannomas \| 6 C0025286 \| meningiomas \| 4 C0025286 \| meningioma \| 4 C1370659 \| plexiform schwannoma \| 2 C1370500 \| tanycytic ependymoma \| 2 C0027809 \| schwannoma \| 1 C0027809 \| schwannomas \| 1 C0027858 \| neuromas \| 1 C0027859 \| acoustic neuromas \| 1 C0002940 \| aneurysm \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
NF2	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

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

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434260	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29639135	TTC	-
rs121434261	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29636821	T	C
rs147506929	7497438	4771	NF2	umls:C0027832	BeFree	Sequencing of these variants in one tumor detected an A-to-G transition in bp 1459 of the NF2 cDNA, resulting in the change of Ile to Val at codon 487 of merlin, the NF2 protein product.	0.598442514	1995	NF2	22	29678208	A	G
rs587776562	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29636877	G	T
rs74315492	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29671905	T	C
rs74315493	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29681468	T	C
rs74315494	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29681477	A	C
rs74315495	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29655621	G	T
rs74315496	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29661313	C	T
rs74315497	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29668405	C	T
rs74315499	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29671847	C	T
rs74315501	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29673365	C	T
rs74315503	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29674882	G	A,T
rs74315504	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29674891	C	T
rs74315505	NA	4771	NF2	umls:C0027832	CLINVAR	NA	0.598442514	NA	NF2	22	29681443	G	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.)

Disease ID	92
Disease	neurofibromatosis 2
Case	(Waiting for update.)

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