| 영문 | neurofibromatosis | 한글 | 신경섬유종증 |
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| 설명 | 전신의 여러곳에 무더기로 나는 신경섬유종을 특징으로 하는 유전성 전신 병. 말초 신경뿐 아니라 중추 신경계도 침범할 수 있다. 신경섬유종은 주로 전신의 피부에 발생되지만 신경얼기 혹은 내장에 생기는 수도 있다. 피부에는 또한 곳곳에 특유의 갈색색소반을 보게 된다. 골격의 변형을 일으킬 수도 있다. 신경초종이나 악성신경초종, 더욱이 신경교종이나 수막종 등의 두개내종양을 합병함도 알려져 있다. 1형(von Recklinghausen 병, 전형적 신경섬유종증)과 2형(중추형 또는 청각신경섬유종증)으로 구분한다. 전형적 신경섬유종증(1형)이 가장 많이 발생하며 다음과 같은 3가지 소견을 보인댜. 즉 ① 체표면, 체내 여러 곳에 산재되어 발생하는 얼기모양신경종, ② 우유커피반점, ③ 리쉬(Lisch) 결절로 불리는 홍채의 착색과오종이다. 2형은 1형보다 발생빈도가 적고, 특징적으로 양쪽성 청각신경종이 있으며, 우유반점은 보이나 리쉬결절은 없다. |
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| NF | nafcillin; National Formulary; nephritic factor; neurofibromatosis; neurofilament; neutral fraction;... |
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| NF1 | neurofibromatosis type I; nuclear factor 1 |
| NF2 | neurofibromatosis type II |
| NFNS | neurofibromatosis-Noonan syndrome |
| NPDC | neurofibromatosis-pheochromocytoma-duodenal carcinoid [syndrome] |
| ISG | IFN stimulated genes |
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| mdr | Multidrug resistance genes |
| stx | Shiga toxin genes |
| or genes | gene |
| rDNA | ribosomal DNA genes |
| genes, neurofibromatosis 1 | Tumour suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause neurofibromatosis 1. (12 Dec 1998) |
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| genes, neurofibromatosis 2 | Tumour suppressor genes located on the long arm of human chromosome 22. Mutation or loss of these genes causes neurofibromatosis 2. (12 Dec 1998) |
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| abortive neurofibromatosis | incomplete neurofibromatosis |
| central type neurofibromatosis | Type I neurofibromatosis. Incomplete neurofibromatosis, multiple neurofibromas with minimal manifestations, perhaps limited to cafe-au-lait spots; individuals with minimal lesions may have offspring with severe involvement. Synonym: abortive neurofibromatosis. (05 Mar 2000) |
| neurofibromatosis | <oncology> One of the most common disorders in genetics, neurofibromatosis encompasses at least two diseases, designated NF-1 and NF-2. NF-1 or classic neurofibromatosis, is characterised by the familiar cafe- au-lait spots, axillary freckling, cutaneous and visceral neurofibromas (which sometimes undergo malignant transformation), gliomas, scoliosis, and Lisch nodules of the iris. NF-1 is associated with the the von Recklinghausen Neurofibromatosis locus that encodes the NF-1 protein, a GTPase activating protein which interacts with the ras proteins. The gene is located on chromosome 17. NF-2, also called acoustic or central neurofibromatosis, features neurofibromas restricted to the acoustic nerve (usually bilateral) and the central nervous system, skin lesions may or may not be present. The gene is located on chromosome 22. There are no biochemical markers of the disorder, but the cloning of both the NF-1 and NF-2 genes makes DNA-based diagnosis possible in some families. Both genes appear to be tumour suppressor genes. Both conditions are autosomal dominant, but the variable penetrance and expressivity and high frequency of new mutations make genetic counseling difficult. Inheritance: autosomal dominant. (29 Dec 1997) |
| neurofibromatosis 1 | A congenital autosomal dominant disorder characterised by developmental changes in the nervous system, muscles, bones, and skin especially in those derived from the embryonic neural crest. There are multiple cutaneous tumours and tumours of the peripheral and central nervous system. The disease has been linked to mutations of the nf1 gene on chromosome 17. (12 Dec 1998) |
| neurofibromatosis 2 | Severe autosomal dominant disorder characterised especially by bilateral acoustic neuromas as well as other multiple tumours including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the nf2 gene on chromosome 22. (12 Dec 1998) |
| breast cancer susceptibility genes | Inherited factors that predispose to breast cancer. Put otherwise, these genes make one more susceptible to the disease and so increase the risk of developing breast cancer. Two of these genes, BRCA1 and BRCA2, have been identified (and prominently publicised). Several other genes (those for the Li-Fraumeni syndrome, Cowden disease, Muir-Torre syndrome, and ataxia-telangiectasia) are also known to predispose to breast cancer. However, since all of these known breast cancer susceptibility genes together do not account for more than a minor fraction (1/5th at most) of breast cancer that clusters in families, it is clear that more breast cancer genes remain to be discovered. (12 Dec 1998) |
| cancer, breast, susceptibility genes | Inherited factors that predispose to breast cancer. Put otherwise, these genes make one more susceptible to the disease and so increase the risk of developing breast cancer. Two of these genes, BRCA1 and BRCA2, have been identified (and prominently publicised). Several other genes (those for the Li-Fraumeni syndrome, Cowden disease, Muir-Torre syndrome, and ataxia-telangiectasia) are also known to predispose to breast cancer. However, since all of these known breast cancer susceptibility genes together do not account for more than a minor fraction (1/5th at most) of breast cancer that clusters in families, it is clear that more breast cancer genes remain to be discovered. (12 Dec 1998) |
| genes | Located in the nucleus of the cell, genes contain hereditary information that is transferred from cell to cell. (09 Oct 1997) |
| genes, abl | Retrovirus-associated DNA sequences (abl) originally isolated from the abelson murine leukaemia virus (ab-mulv). The proto-oncogene abl (c-abl) codes for a protein that is a member of the tyrosine kinase family. The human c-abl gene is located at 9q34.1 on the long arm of chromosome 9. It is activated by translocation to bcr on chromosome 22 in chronic myelogenous leukaemia. (12 Dec 1998) |
| genes, apc | Tumour suppressor genes located in the 5q21 region on the long arm of chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (apc stands for adenomatous polyposis coli) and gardner's syndrome, as well as some sporadic colourectal cancers. (12 Dec 1998) |
| genes, arac | Regulatory genes which encode a cyclic AMP receptor protein required for l-arabinose utilization in e. Coli. It is an example of positive control or regulation of gene expression in the bacterial operon. (12 Dec 1998) |
| genes, archaeal | The genetic material of archaea. (12 Dec 1998) |
| genes, bacterial | The genetic material of bacteria. (12 Dec 1998) |
| genes, bcl-1 | The B-cell leukaemia/lymphoma-1 genes, associated with various neoplasms when overexpressed. Overexpression results from the t(11;14) translocation, which is characteristic of mantle zone-derived B-cell lymphomas. The human c-bcl-1 gene is located at 11q13 on the long arm of chromosome 18. (12 Dec 1998) |
Synonyms : Genes, nf 1, Gene, nf 1, Gene, nf1, Neurofibromatosis 1 Gene, nf 1 Gene, nf 1 Genes, nf1 Gene
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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