neurofibromatosis 1

Summary
Synonym
  • NF1
  • Peripheral Neurofibromatosis
  • Recklinghausen's neurofibromatosis
  • neurofibromatosis type I
  • von Recklinghausen Disease
Definition
A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
Super Class
neurofibromatosis
External Links
Disease Ontology
DOID:0111253
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 25 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
929 CD14 CD14 molecule
952 CD38 CD38 molecule
1056 CEL carboxyl ester lipase
2026 ENO2 enolase 2
2271 FH fumarate hydratase
2539 G6PD glucose-6-phosphate dehydrogenase
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
4360 MRC1 mannose receptor C-type 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024