PBS
MCID: PRN038
MIFTS: 54

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 58 12 77 54 60 76 38 30 6 45 15 74
Eagle-Barrett Syndrome 58 54 76 13 41
Abdominal Muscle Deficiency Syndrome 12 60 76
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 58 54
Eagle-Barret Syndrome 12 60
Egbrs 58 76
Pbs 58 76
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 76
Eagle-Barrett Syndrome; Egbrs 58
Obrisnksy Syndrome 12
Obrinsky Syndrome 60
Triad Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prune Belly Syndrome

NIH Rare Diseases : 54 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 Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and uterus, and related phenotypes are cryptorchidism and decreased fertility

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 : 58 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 : 76 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 : 77 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 151)
# 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 11.4
6 blood group, gerbich system 10.8
7 posterior urethral valves 10.5
8 abdominal wall defect 10.4
9 retinoblastoma 10.3
10 urinary tract obstruction 10.3
11 encephalopathy 10.3
12 triiodothyronine receptor auxiliary protein 10.3
13 blood group, colton system 10.3
14 rheumatoid arthritis 10.2
15 pulmonary atresia with intact ventricular septum 10.2
16 kidney disease 10.2
17 beckwith-wiedemann syndrome 10.2
18 vater/vacterl association 10.2
19 gastroschisis 10.2
20 microcolon 10.2
21 omphalocele 10.2
22 vacterl association 10.2
23 teratoma 10.2
24 seminoma 10.2
25 adenoma 10.2
26 nephrogenic adenoma 10.2
27 atresia of urethra 10.2
28 bornholm eye disease 10.2
29 elastosis perforans serpiginosa 10.2
30 intraocular pressure quantitative trait locus 10.2
31 isolated optic neuritis 10.2
32 leprosy 3 10.1
33 hansen's disease 10.1
34 neutrophil migration 10.1
35 polymyositis 10.1
36 tetralogy of fallot 10.1
37 down syndrome 10.1
38 anus, imperforate 10.1
39 ocular motor apraxia 10.1
40 pulmonic stenosis 10.1
41 perlman syndrome 10.1
42 alpha-1-antitrypsin deficiency 10.1
43 lymphatic malformation 7 10.1
44 ectodermal dysplasia 10.1
45 end stage renal failure 10.1
46 nephrolithiasis 10.1
47 sacrococcygeal teratoma 10.1
48 scoliosis 10.1
49 gingival fibromatosis 10.1
50 renal hypoplasia 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

Human phenotypes related to Prune Belly Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
2 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
3 vesicoureteral reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0000076
4 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
5 hydroureter 60 33 hallmark (90%) Very frequent (99-80%) HP:0000072
6 aplasia of the abdominal wall musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0005199
7 congenital posterior urethral valve 60 33 hallmark (90%) Very frequent (99-80%) HP:0010957
8 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
9 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
10 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
11 decreased testicular size 60 33 frequent (33%) Frequent (79-30%) HP:0008734
12 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
13 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
14 recurrent urinary tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0000010
15 oligohydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001562
16 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
17 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
20 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
21 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
22 congenital hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001374
23 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
24 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
25 abnormality of the uterus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000130
26 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
27 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
28 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
29 vertebral segmentation defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0003422
30 volvulus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002580
31 intestinal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011100
32 urogenital sinus anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0100779
33 pectus carinatum 33 HP:0000768
34 xerostomia 33 HP:0000217
35 abnormality of the bladder 60 Very frequent (99-80%)
36 abnormality of the ureter 60 Very frequent (99-80%)
37 hydronephrosis 33 HP:0000126
38 abnormality of the skin 33 HP:0000951
39 abnormal heart morphology 33 HP:0001627
40 prune belly 33 HP:0004392

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Prune Belly Syndrome

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Experimental, Investigational Phase 2 58-22-0, 481-30-1 10204 6013
2
Testosterone enanthate Approved Phase 2 315-37-7 9416
3
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
4
Methyltestosterone Approved Phase 2 58-18-4 6010
5 Androgens Phase 2
6 Hormones Phase 2
7 Antineoplastic Agents, Hormonal Phase 2
8 Hormone Antagonists Phase 2
9 Anabolic Agents Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
11 Testosterone 17 beta-cypionate Phase 2
12 Anesthetics Not Applicable
13 Soy Bean Not Applicable
14 Nutrients

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 Effect of Acupuncture and Diet Modification on amenorrheaIN FEMALE ATHLETE TRIAD Recruiting NCT03817827 Not Applicable
5 Technique of Restriction of Blood Flow Associated With the Ergonomic Cycle of Upper Limbs in Women Completed NCT03618004 Not Applicable
6 Energy Availability in Female Athletes Completed NCT03593382
7 Efficacy of the Female Athlete Body Project (FAB) Active, not recruiting NCT01735994 Not Applicable
8 Frequency of Female Athlete Triad Among Elite Female Athlete of Iran in Different Sport in 2007 Terminated NCT01183377
9 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 30 CHRM3

Anatomical Context for Prune Belly Syndrome

MalaCards organs/tissues related to Prune Belly Syndrome:

42
Skin, Kidney, Uterus, Colon, Eye, Adrenal Gland, Neutrophil

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 373)
# Title Authors Year
1
An Autopsy Case Report: Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence. ( 30632118 )
2019
2
Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients. ( 30113772 )
2019
3
Prune belly syndrome: Approaches to its diagnosis and management. ( 30560020 )
2018
4
Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome. ( 30310713 )
2018
5
Copy number variations in a population with prune belly syndrome. ( 30285310 )
2018
6
Living-related kidney transplantation with catheterizable urinary conduit in prune belly syndrome: A case report. ( 30172052 )
2018
7
Corrigendum: Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. ( 30140665 )
2018
8
Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center. ( 30018947 )
2018
9
Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. ( 29456226 )
2018
10
Rare copy number variants identified in prune belly syndrome. ( 29174092 )
2018
11
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. ( 28779237 )
2018
12
Structural study of the bladder in fetuses with prune belly syndrome. ( 28598513 )
2018
13
Pediatric patient with end-stage kidney disease secondary to Eagle-Barrett syndrome and metastatic unresectable hepatoblastoma treated successfully with chemotherapy and liver-kidney transplant. ( 29356335 )
2018
14
Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome. ( 29242658 )
2017
15
Prune belly syndrome: A report of 15 cases from Sudan. ( 29213170 )
2017
16
Unusual presentation of prune belly syndrome: a case report. ( 29198187 )
2017
17
"Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome. ( 29100970 )
2017
18
Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome. ( 29049186 )
2017
19
Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula. ( 28770135 )
2017
20
Study of Testicular Structure in Fetuses with Prune Belly Syndrome. ( 28607553 )
2017
21
Prune Belly Syndrome with Sacrococcygeal Teratoma. ( 28593491 )
2017
22
Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review. ( 28580040 )
2017
23
Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness. ( 28373000 )
2017
24
Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome. ( 26729223 )
2016
25
Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome. ( 26718669 )
2016
26
Health-related Quality of Life in Children With Prune-belly Syndrome and Their Caregivers. ( 26453837 )
2016
27
Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome. ( 26447390 )
2016
28
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
29
It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL. ( 27433451 )
2016
30
Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female. ( 27287284 )
2016
31
Clinical manifestations of prune belly syndrome. ( 27252342 )
2016
32
Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography. ( 27102933 )
2016
33
Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography". ( 26899983 )
2016
34
Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. ( 26826943 )
2016
35
PRUNE BELLY SYNDROME. ( 26721059 )
2015
36
Commentary to "27 years of experience with the comprehensive surgical management of prune belly syndrome". ( 26302827 )
2015
37
Response to commentary to "27 years of experience with the comprehensive surgical management of prune belly syndrome". ( 26279103 )
2015
38
Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. ( 26231776 )
2015
39
Abdominoplasty in Prune Belly Syndrome. ( 26227565 )
2015
40
27 years of experience with the comprehensive surgical treatment of prune belly syndrome. ( 26143487 )
2015
41
Seminoma in Cryptorchid Testis in Prune Belly Syndrome. ( 26057338 )
2015
42
A First Description of Prune Belly Syndrome in Central Africa. ( 25937487 )
2015
43
Prune Belly syndrome: A rare case report. ( 25810678 )
2015
44
Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. ( 25444629 )
2015
45
Structural study of gubernaculum testis in fetuses with prune belly syndrome. ( 25301093 )
2015
46
A case of prune belly syndrome. ( 23639747 )
2015
47
Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus. ( 25733182 )
2015
48
Prune-belly syndrome: an autopsy case report. ( 28573127 )
2014
49
Anesthetic experience of a patient with Prune-belly syndrome. ( 25598927 )
2014
50
Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings. ( 25548711 )
2014

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

Cellular components related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.62 ESPN ACTA2

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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