Details of Disease

General Information of Disease (ID: DISBIBMN)

• Disease Name: Prune belly syndrome
• Synonyms: abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism; eagle-Barrett syndrome; PBS; syndrome of agenesis of abdominal muscles; triad syndrome; eagle-Barret syndrome; Obrinsky syndrome; Obrisnksy syndrome; prune belly syndrome; abdominal muscle deficiency syndrome
• Definition: Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISSTKG1: Fetal lower urinary tract obstruction
  DISNCQLA: Inherited kidney disorder
  DISBIBMN: Prune belly syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007032
  MESH ID: D011535
  UMLS CUI: C0033770
  OMIM ID: 100100
  MedGen ID: 18718
  HPO ID: HP:0004392
  Orphanet ID: 2970
  SNOMED CT ID: 5187006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MOG	TTQAFX5	Limited	Biomarker	[1]
TSPO	TTPTXIN	Limited	Biomarker	[2]
CHRM3	TTQ13Z5	Strong	Autosomal recessive	[3]
CHRM3	TTQ13Z5	Strong	Biomarker	[2]
ITGAM	TTB69FJ	Strong	Biomarker	[4]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL27RA	OTSQBAKI	Limited	Genetic Variation	[5]
ITGAX	OTOGIMHE	Limited	Biomarker	[6]
NAT9	OT4ZKCRS	Limited	Biomarker	[7]
NINJ1	OTLRZ1EU	Limited	Genetic Variation	[8]
SMC3	OTWGFRHD	Limited	Biomarker	[9]
CCNG1	OT17IA9L	moderate	Biomarker	[10]
DGCR2	OTEGL17Z	moderate	Biomarker	[11]
LAMA1	OTQZMP86	moderate	Genetic Variation	[12]
CHRM3	OTKSD095	Strong	Autosomal recessive	[3]

References

• [1] Potential of Adult Endogenous Neural Stem/Progenitor Cells in the Spinal Cord to Contribute to Remyelination in Experimental Autoimmune Encephalomyelitis.Cells. 2019 Sep 3;8(9):1025. doi: 10.3390/cells8091025.
• [2] Evaluation of a ConvitVax/anti-PD-1 combined immunotherapy for breast cancer treatment.Oncotarget. 2019 Nov 12;10(61):6546-6560. doi: 10.18632/oncotarget.27283. eCollection 2019 Nov 12.
• [3] Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9579-84. doi: 10.1073/pnas.97.17.9579.
• [4] Prior exposure to inhaled allergen enhances anti-viral immunity and T cell priming by dendritic cells.PLoS One. 2018 Jan 2;13(1):e0190063. doi: 10.1371/journal.pone.0190063. eCollection 2018.
• [5] IL-27 signaling deficiency develops Th17-enhanced Th2-dominant inflammation in murine allergic conjunctivitis model.Allergy. 2019 May;74(5):910-921. doi: 10.1111/all.13691. Epub 2019 Jan 4.
• [6] Human sodium/iodide symporter-mediated radioiodine gene therapy enhances the killing activities of CTLs in a mouse tumor model.Mol Cancer Ther. 2010 Jan;9(1):126-33. doi: 10.1158/1535-7163.MCT-09-0540. Epub 2010 Jan 6.
• [7] Pediatric patient with end-stage kidney disease secondary to Eagle-Barrett syndrome and metastatic unresectable hepatoblastoma treated successfully with chemotherapy and liver-kidney transplant.Pediatr Transplant. 2018 Mar;22(2). doi: 10.1111/petr.13123. Epub 2018 Jan 22.
• [8] Neuroprotective and Anti-inflammatory Effects of a Dodecamer Peptide Harboring Ninjurin 1 Cell Adhesion Motif in the Postischemic Brain.Mol Neurobiol. 2018 Jul;55(7):6094-6111. doi: 10.1007/s12035-017-0810-1. Epub 2017 Nov 14.
• [9] The Significant Reduction or Complete Eradication of Subcutaneous and Metastatic Lesions in a Pheochromocytoma Mouse Model after Immunotherapy Using Mannan-BAM, TLR Ligands, and Anti-CD40.Cancers (Basel). 2019 May 11;11(5):654. doi: 10.3390/cancers11050654.
• [10] Inhibition of metastatic tumor growth in nude mice by portal vein infusions of matrix-targeted retroviral vectors bearing a cytocidal cyclin G1 construct.Cancer Res. 2000 Jul 1;60(13):3343-7.
• [11] Oncolytic herpes simplex virus mutants are more efficacious than wild-type adenovirus Type 5 for the treatment of high-risk neuroblastomas in preclinical models.Pediatr Blood Cancer. 2005 May;44(5):469-78. doi: 10.1002/pbc.20268.
• [12] Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.