MCID: PRN038
MIFTS: 55

Prune Belly Syndrome

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 53 12 72 49 55 71 28 41 69
Eagle-Barrett Syndrome 53 49 71 13
Abdominal Muscle Deficiency Syndrome 12 55 71
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 53 49
Eagle-Barret Syndrome 12 55
Egbrs 53 71
Pbs 53 71
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 71
Eagle-Barrett Syndrome; Egbrs 53
Obrisnksy Syndrome 12
Obrinsky Syndrome 55
Triad Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive


HPO:

31
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prune Belly Syndrome

NIH Rare Diseases : 49 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. Last updated: 8/25/2016

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, and has symptoms including constipation, pectus excavatum and failure to thrive. 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 phenotype is muscle.

OMIM : 53 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 : 71 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 : 72 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 59)
# Related Disease Score Top Affiliating Genes
1 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 12.2
2 visceral myopathy 11.5
3 plastic bronchitis 11.2
4 interstitial cystitis 11.2
5 potter's syndrome 11.2
6 urethritis 10.6
7 posterior urethral valves 10.4
8 prostatitis 10.3
9 peritonitis 10.3
10 encephalopathy 10.2
11 beckwith-wiedemann syndrome 10.1
12 gastroschisis 10.1
13 omphalocele 10.1
14 teratoma 10.1
15 seminoma 10.1
16 urinary tract obstruction 10.1
17 adenoma 10.1
18 nephrogenic adenoma 10.1
19 abdominal wall defect 10.1
20 atresia of urethra 10.1
21 kidney disease 10.0
22 tetralogy of fallot 9.9
23 down syndrome 9.9
24 vater/vacterl association 9.9
25 anus, imperforate 9.9
26 cryptorchidism, unilateral or bilateral 9.9
27 microcolon 9.9
28 pulmonic stenosis 9.9
29 perlman syndrome 9.9
30 aging 9.9
31 branchiootic syndrome 1 9.9
32 alpha-1-antitrypsin deficiency 9.9
33 episodic pain syndrome, familial, 1 9.9
34 immunodeficiency 14 9.9
35 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
36 end stage renal failure 9.9
37 hepatitis 9.9
38 nephrolithiasis 9.9
39 sacrococcygeal teratoma 9.9
40 scoliosis 9.9
41 gingival fibromatosis 9.9
42 vacterl association 9.9
43 vaginitis 9.9
44 phimosis 9.9
45 gingivitis 9.9
46 pseudohermaphroditism 9.9
47 pulmonary valve stenosis 9.9
48 hepatoblastoma 9.9
49 situs inversus 9.9
50 amniotic band syndrome 9.9

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:

53
Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum
flared ribs

Genitourinary Internal Genitalia Male:
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 Gastroin testinal:
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:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
3 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
4 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
5 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
6 cognitive impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0100543
7 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
8 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
10 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
11 decreased testicular size 55 31 frequent (33%) Frequent (79-30%) HP:0008734
12 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
13 decreased fertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000144
14 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
15 vesicoureteral reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0000076
16 abnormality of the uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000130
17 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
18 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 talipes equinovarus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001762
20 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002566
21 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
22 recurrent urinary tract infections 55 31 frequent (33%) Frequent (79-30%) HP:0000010
23 vertebral segmentation defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0003422
24 oligohydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001562
25 aplasia/hypoplasia of the lungs 55 31 hallmark (90%) Very frequent (99-80%) HP:0006703
26 hydroureter 55 31 hallmark (90%) Very frequent (99-80%) HP:0000072
27 volvulus 55 31 occasional (7.5%) Occasional (29-5%) HP:0002580
28 intestinal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011100
29 urogenital sinus anomaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0100779
30 congenital hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001374
31 aplasia of the abdominal wall musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0005199
32 congenital posterior urethral valve 55 31 hallmark (90%) Very frequent (99-80%) HP:0010957
33 pectus carinatum 31 HP:0000768
34 xerostomia 31 HP:0000217
35 abnormality of the bladder 55 Very frequent (99-80%)
36 abnormality of the ureter 55 Very frequent (99-80%)
37 hydronephrosis 31 HP:0000126
38 abnormality of the skin 31 HP:0000951
39 abnormal heart morphology 31 HP:0001627
40 prune belly 31 HP:0004392

MGI Mouse Phenotypes related to Prune Belly Syndrome:

43
# 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 Anabolic Agents Phase 2
4 Androgens Phase 2
5 Antineoplastic Agents, Hormonal Phase 2
6 Hormone Antagonists Phase 2
7 Hormones Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
9 Testosterone 17 beta-cypionate Phase 2
10
Testosterone enanthate Phase 2 315-37-7 9416
11 Testosterone undecanoate Phase 2
12 Anesthetics

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
4 Efficacy of the Female Athlete Body Project (FAB) Active, not recruiting NCT01735994
5 Fetal Cystoscopy for Lower Urinary Tract Obstruction Terminated NCT02446184
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 28 CHRM3

Anatomical Context for Prune Belly Syndrome

MalaCards organs/tissues related to Prune Belly Syndrome:

38
Skin, Kidney, Lung, Heart, Colon, Prostate, Uterus

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 334)
# Title Authors Year
1
Rare copy number variants identified in prune belly syndrome. ( 29174092 )
2018
2
Combined laparoscopic and open technique for repair of congenital abdominal hernia: A case report of prune belly syndrome. ( 29049186 )
2017
3
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. ( 28779237 )
2017
4
Study of Testicular Structure in Fetuses with Prune Belly Syndrome. ( 28607553 )
2017
5
"Pseudo-prune belly syndrome": An under-reported phenotypic variant of prune belly syndrome. ( 29100970 )
2017
6
Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness. ( 28373000 )
2017
7
Quadratus lumborum block for post-operative pain relief in patient with Prune belly syndrome. ( 29242658 )
2017
8
Structural study of the bladder in fetuses with prune belly syndrome. ( 28598513 )
2017
9
Prune Belly Syndrome with Sacrococcygeal Teratoma. ( 28593491 )
2017
10
Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review. ( 28580040 )
2017
11
Prune belly syndrome: A report of 15 cases from Sudan. ( 29213170 )
2017
12
Unusual presentation of prune belly syndrome: a case report. ( 29198187 )
2017
13
Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula. ( 28770135 )
2017
14
It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL. ( 27433451 )
2016
15
Clinical manifestations of prune belly syndrome. ( 27252342 )
2016
16
Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography. ( 27102933 )
2016
17
Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female. ( 27287284 )
2016
18
Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome. ( 26729223 )
2016
19
Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography". ( 26899983 )
2016
20
Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. ( 26826943 )
2016
21
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
22
Abdominoplasty in Prune Belly Syndrome. ( 26227565 )
2015
23
PRUNE BELLY SYNDROME. ( 26721059 )
2015
24
Prune Belly syndrome: A rare case report. ( 25810678 )
2015
25
A First Description of Prune Belly Syndrome in Central Africa. ( 25937487 )
2015
26
Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome. ( 26718669 )
2015
27
Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. ( 25444629 )
2015
28
Seminoma in Cryptorchid Testis in Prune Belly Syndrome. ( 26057338 )
2015
29
Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus. ( 25733182 )
2015
30
Health-Related Quality of Life in Children with Prune Belly Syndrome and Their Caregivers. ( 26453837 )
2015
31
Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. ( 26231776 )
2015
32
27 years of experience with the comprehensive surgical treatment of prune belly syndrome. ( 26143487 )
2015
33
Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome. ( 26447390 )
2015
34
Structural Study of Gubernaculum Testis in Fetuses with Prune Belly Syndrome. ( 25301093 )
2014
35
Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings. ( 25548711 )
2014
36
Prune belly syndrome: early management outcome of nine consecutive cases. ( 24909464 )
2014
37
Anesthetic experience of a patient with Prune-belly syndrome. ( 25598927 )
2014
38
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. ( 24998021 )
2014
39
Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. ( 22506933 )
2013
40
Normal live births after intracytoplasmic sperm injection in a man with the rare condition of Eagle-Barrett syndrome (prune-belly syndrome). ( 23993927 )
2013
41
Modified Abdominoplasty for Patients With the Prune Belly Syndrome. ( 24231220 )
2013
42
Prune belly syndrome with congenital pouch colon. ( 23798812 )
2013
43
Prune belly syndrome, splenic torsion, and malrotation: a case report. ( 23414901 )
2013
44
A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management. ( 23651554 )
2013
45
Oral manifestations associated with systemic complications of prune belly syndrome. ( 22901648 )
2013
46
A Case of Prune Belly Syndrome. ( 23639747 )
2013
47
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
48
Laparoscopic-assisted surgical reconstruction of a rare congenital abdominal wall defect in two children misdiagnosed with prune-belly syndrome. ( 23270915 )
2013
49
Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. ( 24328013 )
2013
50
Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature. ( 24311916 )
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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