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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
| 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 |
Related Glycoprotein
