PedAM
Pediatric Disease Annotations & Medicines
| prune belly syndrome | ||||
| Disease ID | 74 |
|---|---|
| Disease | prune belly syndrome |
| Definition | A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin. |
| Synonym | abdominal muscle deficiency syndrome abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism belly prune syndrome congenital absence of the abdominal muscles eagle barrett syndrome eagle-barrett syndrome egbrs obrinsky syndrome pbs prune belly prune belly syndrome (disorder) prune belly syndrome [disease/finding] prune belly syndromes prune-belly syndrome prune-belly syndromes syndrome of agenesis of abdominal muscles syndrome, eagle-barrett syndrome, obrinsky syndrome, prune belly syndrome, prune-belly syndromes, prune belly syndromes, prune-belly triad syndrome |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0033770 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CHRM3 | 1q43 |
| Disease ID | 74 |
|---|---|
| Disease | prune belly syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000144 | Decreased fertility HP:0005199 | Aplasia of the abdominal wall musculature HP:0000014 | Abnormality of the bladder HP:0002019 | Constipation HP:0001636 | Tetralogy of Fallot HP:0001629 | Ventricular septal defect HP:0100779 | Urogenital sinus anomaly HP:0001562 | Oligohydramnios HP:0008734 | Decreased testicular size HP:0003422 | Vertebral segmentation defect HP:0001631 | Atrial septal defect HP:0001762 | Talipes equinovarus HP:0000767 | Pectus excavatum HP:0010957 | Congenital posterior urethral valve HP:0100543 | Cognitive impairment HP:0000003 | Multicystic kidney dysplasia HP:0000083 | Renal insufficiency HP:0002023 | Anal atresia HP:0002566 | Intestinal malrotation HP:0011100 | Intestinal atresia HP:0000010 | Recurrent urinary tract infections HP:0002580 | Volvulus HP:0000028 | Cryptorchidism HP:0000076 | Vesicoureteral reflux HP:0000069 | Abnormality of the ureter HP:0002205 | Recurrent respiratory infections HP:0001643 | Patent ductus arteriosus HP:0002650 | Scoliosis HP:0000130 | Abnormality of the uterus HP:0000772 | Abnormality of the ribs HP:0000072 | Hydroureter HP:0001508 | Failure to thrive HP:0001374 | Congenital hip dislocation HP:0006703 | Aplasia/Hypoplasia of the lungs |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000021 | Megacystis | 2 HP:0100771 | Hypoperistalsis | 2 HP:0004388 | Microcolon | 2 HP:0000110 | Renal dysplasia | 1 HP:0011499 | Mydriasis | 1 HP:0000078 | Genital abnormalities | 1 |
| Disease ID | 74 |
|---|---|
| Disease | prune belly syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776862 | NA | 1131 | CHRM3 | umls:C0033770 | CLINVAR | NA | 0.36 | NA | CHRM3 | 1 | 239908624 | GCCTGAGGAGGA | T |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 22 | 43553852 | rs9333327 | NM_000714,TSPO | NM_007311,TSPO | ENST00000337554,ENSG00000100300 | ENST00000396265,ENSG00000100300 | ENST00000361449,ENSG00000100300 | ENST00000472378,ENSG00000100300 | ENST00000428336,ENSG00000100300 | ENST00000329563,ENSG00000100300 | NA | NA | chr22,43550001,43560000,chr19,45550001,45560000,12,Hi-C | chr22,43550001,43560000,chr22,44990001,45000000,6,Hi-C | chr22,43550001,43560000,chr22,43510001,43520000,8,Hi-C | chr22,43550001,43560000,chr22,43580001,43590000,8,Hi-C | NA | LM36,1.2757 | LM200,1.7468 | CF2-II,1.3783 | Dof2,4.4062 | Dof3,10.3086 | NA | NA | NA | NA | NA | NA | 0.001 | 0.124 | 0.233 | R1 | G | NA | NA | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000010 | Recurrent urinary tract infections | MP:0003617 | urinary bladder hypoplasia;HP:0003774 | Stage 5 chronic kidney disease |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000010 | Recurrent urinary tract infections | MP:0003257 | abnormal abdominal wall morphology;HP:0003774 | Stage 5 chronic kidney disease |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |