Biomaterial Database

[Ophthalmological observations & problems in Recklinghausen's disease]. 1958

G HAGER

UI	MeSH Term	Description	Entries
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
D009885	Ophthalmology	A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.	Ocular Surgery,Ocular Surgeries,Surgery, Ocular
D005123	Eye	The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.	Eyes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017253	Neurofibromatoses	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)	Neurofibromatosis,Neurofibromatosis Type 3,Multiple Neurofibromas,Neurofibromatosis 3,Neurofibromatosis Syndrome,Multiple Neurofibroma,Neurofibroma, Multiple,Neurofibromas, Multiple,Neurofibromatosis 3s,Neurofibromatosis Syndromes,Neurofibromatosis Type 3s,Syndrome, Neurofibromatosis,Syndromes, Neurofibromatosis,Type 3, Neurofibromatosis