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 1 - 10 of 36 in total
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
142 PARP1 poly(ADP-ribose) polymerase 1
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1605 DAG1 dystroglycan 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