PBS
MCID: PRN038
MIFTS: 49

Prune Belly Syndrome (PBS)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Prune Belly Syndrome

MalaCards integrated aliases for Prune Belly Syndrome:

Name: Prune Belly Syndrome 57 12 76 53 59 75 37 29 6 44 15 73
Eagle-Barrett Syndrome 57 53 75 13 40
Abdominal Muscle Deficiency Syndrome 12 59 75
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 57 53
Eagle-Barret Syndrome 12 59
Egbrs 57 75
Pbs 57 75
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 75
Eagle-Barrett Syndrome; Egbrs 57
Obrisnksy Syndrome 12
Obrinsky Syndrome 59
Triad Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
prune belly syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Italy),1-9/100000 (United States); Age of onset: Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prune Belly Syndrome

NIH Rare Diseases : 53 Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear "prune-like"; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum, the condition may cause severe kidney and pulmonary (lung) problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities. The cause of PBS is unknown. Treatment varies, but usually includes surgical management of symptoms.

MalaCards based summary : Prune Belly Syndrome, also known as eagle-barrett syndrome, is related to prune belly syndrome with pulmonic stenosis, mental retardation, and deafness and interstitial cystitis. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3). The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and lung, and related phenotypes are pectus excavatum and failure to thrive

Disease Ontology : 12 A syndrome that has material basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. It is characterized by megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin.

OMIM : 57 In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011). (100100)

UniProtKB/Swiss-Prot : 75 Prune belly syndrome: A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.

Wikipedia : 76 Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of... more...

Related Diseases for Prune Belly Syndrome

Diseases related to Prune Belly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 12.4
2 interstitial cystitis 11.7
3 visceral myopathy 11.7
4 plastic bronchitis 11.4
5 potter's syndrome 11.3
6 posterior urethral valves 10.5
7 encephalopathy 10.3
8 beckwith-wiedemann syndrome 10.2
9 vater/vacterl association 10.2
10 gastroschisis 10.2
11 microcolon 10.2
12 omphalocele 10.2
13 vacterl association 10.2
14 teratoma 10.2
15 seminoma 10.2
16 adenoma 10.2
17 nephrogenic adenoma 10.2
18 abdominal wall defect 10.2
19 atresia of urethra 10.2
20 retinoblastoma 10.2
21 pulmonary atresia with intact ventricular septum 10.2
22 kidney disease 10.2
23 triiodothyronine receptor auxiliary protein 10.1
24 rheumatoid arthritis 10.1
25 polymyositis 10.1
26 tetralogy of fallot 10.1
27 down syndrome 10.1
28 anus, imperforate 10.1
29 pulmonic stenosis 10.1
30 perlman syndrome 10.1
31 alpha-1-antitrypsin deficiency 10.1
32 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
33 end stage renal failure 10.1
34 nephrolithiasis 10.1
35 sacrococcygeal teratoma 10.1
36 scoliosis 10.1
37 gingival fibromatosis 10.1
38 renal hypoplasia 10.1
39 acute cystitis 10.1
40 phimosis 10.1
41 pseudohermaphroditism 10.1
42 urinary tract obstruction 10.1
43 pulmonary valve stenosis 10.1
44 hepatoblastoma 10.1
45 situs inversus 10.1
46 amniotic band syndrome 10.1
47 fetal edema 10.1
48 fibromatosis 10.1
49 germ cells tumors 10.1
50 hydrops fetalis 10.1

Graphical network of the top 20 diseases related to Prune Belly Syndrome:



Diseases related to Prune Belly Syndrome

Symptoms & Phenotypes for Prune Belly Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
flared ribs

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Ureters:
hydroureter
posterior urethral valves

Head And Neck Eyes:
impaired pupillary constriction to light

Cardiovascular Heart:
congenital heart defect

Genitourinary Bladder:
distended bladder
fetal urinary tract obstruction

Skin Nails Hair Skin:
wrinkled abdominal skin

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Pelvis:
congenital hip dislocation

Genitourinary Kidneys:
hydronephrosis

Abdomen Gastrointestinal:
imperforate anus

Head And Neck Mouth:
dry mouth

Abdomen External Features:
absent abdominal musculature
visible intestinal pattern (so-called 'prune belly')
thin, lax, protruding abdominal wall

Skeletal Feet:
clubfoot


Clinical features from OMIM:

100100

Human phenotypes related to Prune Belly Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
2 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
3 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
7 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
8 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
9 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
10 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
11 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
12 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
13 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
14 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
15 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
16 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
17 vesicoureteral reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0000076
18 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
19 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
20 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
21 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
22 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
23 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
24 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
25 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
26 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
27 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072
28 volvulus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002580
29 intestinal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011100
30 urogenital sinus anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100779
31 aplasia of the abdominal wall musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0005199
32 congenital posterior urethral valve 59 32 hallmark (90%) Very frequent (99-80%) HP:0010957
33 pectus carinatum 32 HP:0000768
34 xerostomia 32 HP:0000217
35 abnormality of the bladder 59 Very frequent (99-80%)
36 abnormality of the ureter 59 Very frequent (99-80%)
37 hydronephrosis 32 HP:0000126
38 abnormality of the skin 32 HP:0000951
39 abnormal heart morphology 32 HP:0001627
40 prune belly 32 HP:0004392

Drugs & Therapeutics for Prune Belly Syndrome

Drugs for Prune Belly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 2 58-22-0 6013
2
Methyltestosterone Approved Phase 2 58-18-4 6010
3
Testosterone enanthate Approved Phase 2 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
5 Antineoplastic Agents, Hormonal Phase 2
6 Hormone Antagonists Phase 2
7 Androgens Phase 2
8 Testosterone 17 beta-cypionate Phase 2
9 Hormones Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
11 Anabolic Agents Phase 2
12 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Testosterone and Athlete Response Completed NCT03210558 Phase 2 Testosterone cream 1% (Andro-Feme® );Placebo cream
2 Fetal Cystoscopy for Lower Urinary Tract Obstruction Terminated NCT02446184 Not Applicable
3 The Effect of Conservative Interventions on the Signs and Symptoms of Diastasis Recti Completed NCT02268110 Not Applicable
4 Technique of Restriction of Blood Flow Associated With the Ergonomic Cycle of Upper Limbs in Women Completed NCT03618004 Not Applicable
5 Energy Availability in Female Athletes Completed NCT03593382
6 Efficacy of the Female Athlete Body Project (FAB) Active, not recruiting NCT01735994 Not Applicable
7 Frequency of Female Athlete Triad Among Elite Female Athlete of Iran in Different Sport in 2007 Terminated NCT01183377
8 Standardized Prenatal Clinical Care for LUTO Recruiting NCT02315521

Search NIH Clinical Center for Prune Belly Syndrome

Cochrane evidence based reviews: prune belly syndrome

Genetic Tests for Prune Belly Syndrome

Genetic tests related to Prune Belly Syndrome:

# Genetic test Affiliating Genes
1 Prune Belly Syndrome 29 CHRM3

Anatomical Context for Prune Belly Syndrome

MalaCards organs/tissues related to Prune Belly Syndrome:

41
Skin, Kidney, Lung, Heart, Colon, Prostate, Uterus

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 360)
# Title Authors Year
1
Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. ( 29456226 )
2018
2
Rare copy number variants identified in prune belly syndrome. ( 29174092 )
2018
3
Copy number variations in a population with prune belly syndrome. ( 30285310 )
2018
4
Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report. ( 30172052 )
2018
5
Corrigendum: Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. ( 30140665 )
2018
6
Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. ( 30018947 )
2018
7
Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome. ( 30310713 )
2018
8
Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients. ( 30113772 )
2018
9
Prune Belly Syndrome with Sacrococcygeal Teratoma. ( 28593491 )
2017
10
Unusual presentation of prune belly syndrome: a case report. ( 29198187 )
2017
11
Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome. ( 29242658 )
2017
12
Structural study of the bladder in fetuses with prune belly syndrome. ( 28598513 )
2017
13
Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness. ( 28373000 )
2017
14
Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review. ( 28580040 )
2017
15
Study of Testicular Structure in Fetuses with Prune Belly Syndrome. ( 28607553 )
2017
16
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. ( 28779237 )
2017
17
Prune belly syndrome: A report of 15 cases from Sudan. ( 29213170 )
2017
18
"Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome. ( 29100970 )
2017
19
Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome. ( 29049186 )
2017
20
Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula. ( 28770135 )
2017
21
It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL. ( 27433451 )
2016
22
Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography". ( 26899983 )
2016
23
Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome. ( 26729223 )
2016
24
Clinical manifestations of prune belly syndrome. ( 27252342 )
2016
25
Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female. ( 27287284 )
2016
26
Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. ( 26826943 )
2016
27
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
28
Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography. ( 27102933 )
2016
29
Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. ( 26231776 )
2015
30
Abdominoplasty in Prune Belly Syndrome. ( 26227565 )
2015
31
Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. ( 25444629 )
2015
32
Response to commentary to "27 years of experience with the comprehensive surgical management of prune belly syndrome". ( 26279103 )
2015
33
27 years of experience with the comprehensive surgical treatment of prune belly syndrome. ( 26143487 )
2015
34
Commentary to "27 years of experience with the comprehensive surgical management of prune belly syndrome". ( 26302827 )
2015
35
A First Description of Prune Belly Syndrome in Central Africa. ( 25937487 )
2015
36
Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome. ( 26447390 )
2015
37
Health-Related Quality of Life in Children with Prune Belly Syndrome and Their Caregivers. ( 26453837 )
2015
38
Seminoma in Cryptorchid Testis in Prune Belly Syndrome. ( 26057338 )
2015
39
PRUNE BELLY SYNDROME. ( 26721059 )
2015
40
Prune Belly syndrome: A rare case report. ( 25810678 )
2015
41
Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome. ( 26718669 )
2015
42
A case of prune belly syndrome. ( 23639747 )
2015
43
Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus. ( 25733182 )
2015
44
Structural Study of Gubernaculum Testis in Fetuses with Prune Belly Syndrome. ( 25301093 )
2014
45
Prune belly syndrome: early management outcome of nine consecutive cases. ( 24909464 )
2014
46
Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings. ( 25548711 )
2014
47
Anesthetic experience of a patient with Prune-belly syndrome. ( 25598927 )
2014
48
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. ( 24998021 )
2014
49
Prune-belly syndrome: an autopsy case report. ( 28573127 )
2014
50
Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. ( 22506933 )
2013

Variations for Prune Belly Syndrome

ClinVar genetic disease variations for Prune Belly Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRM3 NM_000740.3(CHRM3): c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs) indel Pathogenic rs587776862 GRCh38 Chromosome 1, 239908624: 239908635
2 CHRM3 NM_000740.3(CHRM3): c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs) indel Pathogenic rs587776862 GRCh37 Chromosome 1, 240071924: 240071935

Expression for Prune Belly Syndrome

Search GEO for disease gene expression data for Prune Belly Syndrome.

Pathways for Prune Belly Syndrome

GO Terms for Prune Belly Syndrome

Biological processes related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.62 ESPN LRIG2

Sources for Prune Belly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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