Prader-Willi syndrome

Summary
Synonym
  • Prader Willi syndrome
Definition
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Super Class
chromosomal disease syndrome
External Links
Disease Ontology
DOID:11983
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 36 in total
Gene ID Gene Symbol Description Source
1634 DCN decorin
2348 FOLR1 folate receptor alpha
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2653 GCSH glycine cleavage system protein H
2720 GLB1 galactosidase beta 1
2731 GLDC glycine decarboxylase
2821 GPI glucose-6-phosphate isomerase
3339 HSPG2 heparan sulfate proteoglycan 2
4968 OGG1 8-oxoguanine DNA glycosylase
5224 PGAM2 phosphoglycerate mutase 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