prune belly syndrome

Summary
Synonym
  • Eagle-Barret syndrome
  • Obrisnksy syndrome
  • abdominal muscle deficiency syndrome
Definition
A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0060889
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
217 ALDH2 aldehyde dehydrogenase 2 family member
3383 ICAM1 intercellular adhesion molecule 1
4360 MRC1 mannose receptor C-type 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6401 SELE selectin E
6441 SFTPD surfactant protein D
9126 SMC3 structural maintenance of chromosomes 3
9993 DGCR2 DiGeorge syndrome critical region gene 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