PBS
MCID: PRN038
MIFTS: 52

Prune Belly Syndrome (PBS)

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

Aliases & Classifications for Prune Belly Syndrome

MalaCards integrated aliases for Prune Belly Syndrome:

Name: Prune Belly Syndrome 57 12 76 53 59 75 29 6 44 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 visceral myopathy. An important gene associated with Prune Belly Syndrome is CHRM3 (Cholinergic Receptor Muscarinic 3), and among its related pathways/superpathways is Myometrial Relaxation and Contraction Pathways. The drugs Methyltestosterone and Testosterone 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

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.

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.

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

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary Kidneys:
hydronephrosis

Skeletal Pelvis:
congenital hip dislocation

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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Ureters:
hydroureter
posterior urethral valves

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 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
12 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
13 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
14 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
15 vesicoureteral reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0000076
16 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
17 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
18 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
19 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
20 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
21 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
22 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
23 vertebral segmentation defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0003422
24 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
25 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
26 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072
27 volvulus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002580
28 intestinal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011100
29 urogenital sinus anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0100779
30 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
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

MGI Mouse Phenotypes related to Prune Belly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ACTA2 CHRM3 HNF1B

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
Methyltestosterone Approved Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 2 58-22-0 6013
3
Testosterone enanthate Approved Phase 2 315-37-7 9416
4
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
5 Anabolic Agents Phase 2
6 Androgens Phase 2
7 Antineoplastic Agents, Hormonal Phase 2
8 Hormone Antagonists Phase 2
9 Hormones Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
11 Testosterone 17 beta-cypionate Phase 2
12 Anesthetics Not Applicable

Interventional clinical trials:


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

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 341)
# Title Authors Year
1
Rare copy number variants identified in prune belly syndrome. ( 29174092 )
2018
2
Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. ( 29456226 )
2018
3
Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula. ( 28770135 )
2017
4
Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome. ( 29049186 )
2017
5
"Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome. ( 29100970 )
2017
6
Study of Testicular Structure in Fetuses with Prune Belly Syndrome. ( 28607553 )
2017
7
Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review. ( 28580040 )
2017
8
Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness. ( 28373000 )
2017
9
Structural study of the bladder in fetuses with prune belly syndrome. ( 28598513 )
2017
10
Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome. ( 29242658 )
2017
11
Unusual presentation of prune belly syndrome: a case report. ( 29198187 )
2017
12
Prune Belly Syndrome with Sacrococcygeal Teratoma. ( 28593491 )
2017
13
Prune belly syndrome: A report of 15 cases from Sudan. ( 29213170 )
2017
14
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. ( 28779237 )
2017
15
It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL. ( 27433451 )
2016
16
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
17
Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. ( 26826943 )
2016
18
Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female. ( 27287284 )
2016
19
Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography". ( 26899983 )
2016
20
Clinical manifestations of prune belly syndrome. ( 27252342 )
2016
21
Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome. ( 26729223 )
2016
22
Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography. ( 27102933 )
2016
23
Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus. ( 25733182 )
2015
24
Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. ( 26231776 )
2015
25
Health-Related Quality of Life in Children with Prune Belly Syndrome and Their Caregivers. ( 26453837 )
2015
26
Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome. ( 26718669 )
2015
27
Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome. ( 26447390 )
2015
28
Abdominoplasty in Prune Belly Syndrome. ( 26227565 )
2015
29
A First Description of Prune Belly Syndrome in Central Africa. ( 25937487 )
2015
30
Seminoma in Cryptorchid Testis in Prune Belly Syndrome. ( 26057338 )
2015
31
PRUNE BELLY SYNDROME. ( 26721059 )
2015
32
Prune Belly syndrome: A rare case report. ( 25810678 )
2015
33
Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. ( 25444629 )
2015
34
27 years of experience with the comprehensive surgical treatment of prune belly syndrome. ( 26143487 )
2015
35
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. ( 24998021 )
2014
36
Anesthetic experience of a patient with Prune-belly syndrome. ( 25598927 )
2014
37
Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings. ( 25548711 )
2014
38
Prune belly syndrome: early management outcome of nine consecutive cases. ( 24909464 )
2014
39
Structural Study of Gubernaculum Testis in Fetuses with Prune Belly Syndrome. ( 25301093 )
2014
40
A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management. ( 23651554 )
2013
41
Prune belly syndrome, splenic torsion, and malrotation: a case report. ( 23414901 )
2013
42
Laparoscopic-assisted surgical reconstruction of a rare congenital abdominal wall defect in two children misdiagnosed with prune-belly syndrome. ( 23270915 )
2013
43
Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. ( 22506933 )
2013
44
Modified Abdominoplasty for Patients With the Prune Belly Syndrome. ( 24231220 )
2013
45
Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature. ( 24311916 )
2013
46
The prune belly syndrome in a female foetus with urorectal septum malformation sequence: a case report on a rare entity with an unusual association. ( 24086893 )
2013
47
Oral manifestations associated with systemic complications of prune belly syndrome. ( 22901648 )
2013
48
Normal live births after intracytoplasmic sperm injection in a man with the rare condition of Eagle-Barrett syndrome (prune-belly syndrome). ( 23993927 )
2013
49
Prune belly syndrome with congenital pouch colon. ( 23798812 )
2013
50
Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. ( 24328013 )
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 GRCh37 Chromosome 1, 240071924: 240071935
2 CHRM3 NM_000740.3(CHRM3): c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs) indel Pathogenic rs587776862 GRCh38 Chromosome 1, 239908624: 239908635

Expression for Prune Belly Syndrome

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

Pathways for Prune Belly Syndrome

Pathways related to Prune Belly Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 ACTA2 CHRM3

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 positive regulation of gene expression GO:0010628 8.62 ACTA2 HNF1B

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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