eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| prune belly syndrome | ||||
| Disease ID | 137 |
|---|---|
| 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 | 137 |
|---|---|
| Disease | prune belly syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0000028 | Cryptorchidism HP:0011100 | Intestinal atresia HP:0002023 | Anal atresia HP:0010957 | Congenital posterior urethral valve HP:0100543 | Cognitive impairment HP:0001629 | Ventricular septal defect HP:0000072 | Hydroureter HP:0001562 | Oligohydramnios HP:0002019 | Constipation HP:0008734 | Decreased testicular size HP:0000767 | Pectus excavatum HP:0000010 | Recurrent urinary tract infections HP:0001631 | Atrial septal defect HP:0000083 | Renal insufficiency HP:0002205 | Recurrent respiratory infections HP:0005199 | Aplasia of the abdominal wall musculature HP:0001374 | Congenital hip dislocation HP:0000130 | Abnormality of the uterus HP:0001762 | Talipes equinovarus HP:0001643 | Patent ductus arteriosus HP:0000069 | Abnormality of the ureter HP:0001636 | Tetralogy of Fallot HP:0002580 | Volvulus HP:0000772 | Abnormality of the ribs HP:0000076 | Vesicoureteral reflux HP:0000003 | Multicystic kidney dysplasia HP:0002650 | Scoliosis HP:0001508 | Failure to thrive HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0000014 | Abnormality of the bladder HP:0003422 | Vertebral segmentation defect HP:0002566 | Intestinal malrotation HP:0100779 | Urogenital sinus anomaly HP:0000144 | Decreased fertility |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0004388 | Microcolon | 2 HP:0000021 | Megacystis | 2 HP:0100771 | Hypoperistalsis | 2 HP:0011499 | Mydriasis | 1 HP:0000110 | Renal dysplasia | 1 HP:0000078 | Genital abnormalities | 1 HP:0100582 | Nasal polyps | 1 |
| Disease ID | 137 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0005199 | Aplasia of the abdominal wall musculature | MP:0003194 | abnormal frequency of paradoxical sleep | abnormal incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0001636 | Tetralogy of Fallot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000772 | Abnormality of the ribs | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000069 | Abnormality of the ureter | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
| HP:0000130 | Abnormality of the uterus | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
Mapped by homologous gene(Total Items:32) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000069 | Abnormality of the ureter | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0100779 | Urogenital sinus anomaly | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002023 | Anal atresia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0005199 | Aplasia of the abdominal wall musculature | MP:0013300 | abnormal submandibular gland physiology | any functional anomaly of either of the large major salivary glands situated beneath the mandible |
| HP:0001374 | Congenital hip dislocation | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001643 | Patent ductus arteriosus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001562 | Oligohydramnios | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000072 | Hydroureter | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0010957 | Congenital posterior urethral valve | MP:0013300 | abnormal submandibular gland physiology | any functional anomaly of either of the large major salivary glands situated beneath the mandible |
| HP:0011100 | Intestinal atresia | MP:0011413 | colorless urine | absence of the usual straw-coloration of the urine |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000130 | Abnormality of the uterus | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000144 | Decreased fertility | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 137 |
|---|---|
| Disease | prune belly syndrome |
| Case | (Waiting for update.) |