Biomaterial Database

[A family of von Recklinghausen's disease combined with bilateral acoustic neurinomas (author's transl)]. 1979

M Toyama, and Y Yamazaki, and I Kurita, and J Ito, and K Ueki

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009456	Neurofibromatosis 1	An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).	Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D009464	Neuroma, Acoustic	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)	Acoustic Neuroma,Melanocytic Vestibular Schwannoma,Schwannoma, Acoustic,Schwannoma, Vestibular,Acoustic Neuroma, Cerebellopontine Angle,Acoustic Tumor,Angle Tumor,Cerebellopontine Angle Acoustic Neuroma,Cerebellopontine Angle Tumor,Neurilemmoma, Acoustic,Neurilemoma, Acoustic,Neurinoma of the Acoustic Nerve,Neurinoma, Acoustic,Neuroma, Acoustic, Unilateral,Vestibular Schwannoma,Acoustic Neurilemmoma,Acoustic Neurilemmomas,Acoustic Neurilemoma,Acoustic Neurilemomas,Acoustic Neurinoma,Acoustic Neurinomas,Acoustic Neuromas,Acoustic Schwannoma,Acoustic Schwannomas,Acoustic Tumors,Angle Tumor, Cerebellopontine,Angle Tumors,Angle Tumors, Cerebellopontine,Cerebellopontine Angle Tumors,Melanocytic Vestibular Schwannomas,Neurilemmomas, Acoustic,Neurilemomas, Acoustic,Neurinomas, Acoustic,Neuromas, Acoustic,Schwannoma, Melanocytic Vestibular,Schwannomas, Acoustic,Schwannomas, Melanocytic Vestibular,Schwannomas, Vestibular,Tumor, Acoustic,Tumor, Angle,Tumor, Cerebellopontine Angle,Tumors, Acoustic,Tumors, Angle,Tumors, Cerebellopontine Angle,Vestibular Schwannoma, Melanocytic,Vestibular Schwannomas,Vestibular Schwannomas, Melanocytic
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D003390	Cranial Nerve Neoplasms	Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves.	Cranial Neuroma, Benign,Benign Cranial Nerve Neoplasms,Benign Cranial Nerve Tumors,Cranial Nerve Neoplasms, Benign,Cranial Nerve Neoplasms, Malignant,Cranial Nerve Tumors, Benign,Cranial Nerve Tumors, Malignant,Malignant Cranial Nerve Neoplasms,Malignant Cranial Nerve Tumors,Neoplasms, Cranial Nerve,Neoplasms, Cranial Nerve, Benign,Neoplasms, Cranial Nerve, Malignant,Tumors, Cranial Nerve, Benign,Tumors, Cranial Nerve, Malignant,Benign Cranial Neuroma,Benign Cranial Neuromas,Cranial Nerve Neoplasm,Cranial Neuromas, Benign,Neoplasm, Cranial Nerve,Neuroma, Benign Cranial,Neuromas, Benign Cranial
D005260	Female		Females
D006312	Hearing Loss, Bilateral	Partial hearing loss in both ears.	Deafness Bilateral,Bilateral Deafness,Bilateral Hearing Loss,Bilateral Hearing Losses,Bilateral, Deafness,Bilaterals, Deafness,Deafness Bilaterals,Deafness, Bilateral,Loss, Bilateral Hearing
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults