Maffucci syndrome

Summary
Definition
A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
Super Class
syndrome
External Links
Disease Ontology
DOID:0060221
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000853 Goiter
HP:0001482 Subcutaneous nodule
HP:0001510 Growth delay
HP:0002015 Dysphagia
HP:0002650 Scoliosis
HP:0002653 Bone pain
HP:0002757 Recurrent fractures
HP:0002797 Osteolysis
HP:0002893 Pituitary adenoma
HP:0002897 Parathyroid adenoma
Displaying all 2 entries
Gene ID Gene Symbol Description
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2

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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