MCID: PRN038
MIFTS: 48

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 54 50 24 56 71 29 69
Eagle-Barrett Syndrome 50 24 71 13
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 24 71
Abdominal Muscle Deficiency Syndrome 56 71
Egbrs 24 71
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 50
Eagle-Barret Syndrome 56
Obrinsky Syndrome 56
Triad Syndrome 56
Pbs 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive


HPO:

32
prune belly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Prune Belly Syndrome

NIH Rare Diseases : 50 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 interstitial cystitis and prune belly syndome, and has symptoms including failure to thrive, scoliosis and recurrent respiratory infections. 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.

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.

OMIM : 54
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)

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 52)
id Related Disease Score Top Affiliating Genes
1 interstitial cystitis 11.6
2 prune belly syndome 11.5
3 plastic bronchitis 11.1
4 visceral myopathy 11.1
5 potter's syndrome 11.1
6 urethritis 10.5
7 posterior urethral valves 10.3
8 peritonitis 10.2
9 prostatitis 10.2
10 encephalopathy 10.1
11 urinary tract obstruction 10.0
12 omphalocele 10.0
13 adenoma 10.0
14 nephrogenic adenoma 10.0
15 beckwith-wiedemann syndrome 10.0
16 gastroschisis 10.0
17 teratoma 10.0
18 abdominal wall defect 10.0
19 seminoma 10.0
20 pulmonary atresia with intact ventricular septum 9.9
21 leprosy 9.9
22 scoliosis 9.8
23 pulmonary valve stenosis 9.8
24 patent urachus 9.8
25 perlman syndrome 9.8
26 gingival fibromatosis 9.8
27 renal dysplasia 9.8
28 hepatoblastoma 9.8
29 renal hypoplasia 9.8
30 tetralogy of fallot 9.8
31 imperforate anus 9.8
32 situs inversus 9.8
33 cryptorchidism 9.8
34 down syndrome 9.8
35 amniotic band syndrome 9.8
36 fibromatosis 9.8
37 vacterl association 9.8
38 germ cells tumors 9.8
39 pulmonic stenosis 9.8
40 vaginitis 9.8
41 hydrops fetalis 9.8
42 alpha 1-antitrypsin deficiency 9.8
43 phimosis 9.8
44 end stage renal failure 9.8
45 gingivitis 9.8
46 testicular seminoma 9.8
47 hepatitis 9.8
48 nephrolithiasis 9.8
49 pseudohermaphroditism 9.8
50 aneurysm 9.8

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:

54

Cardiovascular- Vascular:
patent ductus arteriosus

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

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios

Skeletal- Feet:
clubfoot

Head And Neck- Mouth:
dry mouth

Abdomen- Gastroin testinal:
imperforate anus

Genitourinary- Bladder:
distended bladder
fetal urinary tract obstruction

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

Genitourinary- Kidneys:
hydronephrosis

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Pelvis:
congenital hip dislocation

Head And Neck- Eyes:
impaired pupillary constriction to light

Cardiovascular- Heart:
congenital heart defect

Genitourinary- Ureters:
posterior urethral valves
hydroureter

Skin Nails & Hair- Skin:
wrinkled abdominal skin


Clinical features from OMIM:

100100

Human phenotypes related to Prune Belly Syndrome:

56 32 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
4 recurrent urinary tract infections 56 32 frequent (33%) Frequent (79-30%) HP:0000010
5 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
7 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
8 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
9 talipes equinovarus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001762
10 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
11 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
12 pectus excavatum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000767
13 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
14 vesicoureteral reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0000076
15 oligohydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001562
16 intestinal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011100
17 intestinal malrotation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002566
18 congenital hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001374
19 hydroureter 56 32 hallmark (90%) Very frequent (99-80%) HP:0000072
20 volvulus 56 32 occasional (7.5%) Occasional (29-5%) HP:0002580
21 anal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002023
22 decreased fertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0000144
23 decreased testicular size 56 32 frequent (33%) Frequent (79-30%) HP:0008734
24 multicystic kidney dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000003
25 abnormality of the uterus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000130
26 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
27 vertebral segmentation defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0003422
28 aplasia/hypoplasia of the lungs 56 32 hallmark (90%) Very frequent (99-80%) HP:0006703
29 urogenital sinus anomaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0100779
30 aplasia of the abdominal wall musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0005199
31 congenital posterior urethral valve 56 32 hallmark (90%) Very frequent (99-80%) HP:0010957
32 atrial septal defect 32 occasional (7.5%) HP:0001631
33 hydronephrosis 32 HP:0000126
34 pectus carinatum 32 HP:0000768
35 xerostomia 32 HP:0000217
36 prune belly 32 HP:0004392
37 atria septal defect 56 Occasional (29-5%)
38 abnormality of the bladder 56 Very frequent (99-80%)
39 abnormality of the ureter 56 Very frequent (99-80%)
40 abnormality of the skin 32 HP:0000951
41 abnormal heart morphology 32 HP:0001627

MGI Mouse Phenotypes related to Prune Belly Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 CHRM3 HNF1B ACTA2

Drugs & Therapeutics for Prune Belly Syndrome

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

(show all 12)
id 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:


id 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

Genetic Tests for Prune Belly Syndrome

Genetic tests related to Prune Belly Syndrome:

id Genetic test Affiliating Genes
1 Prune Belly Syndrome 29
2 Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism 24 CHRM3

Anatomical Context for Prune Belly Syndrome

MalaCards organs/tissues related to Prune Belly Syndrome:

39
Skin, Kidney, Lung, Heart, Colon, Prostate, Uterus

Publications for Prune Belly Syndrome

Articles related to Prune Belly Syndrome:

(show top 50) (show all 328)
id Title Authors Year
1
Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging - A Case Report and Brief Review. ( 28580040 )
2017
2
Study of Testicular Structure in Fetuses with Prune Belly Syndrome. ( 28607553 )
2017
3
Structural study of the bladder in fetuses with prune belly syndrome. ( 28598513 )
2017
4
Abdominoplasty in prune belly syndrome: Modifications in Monfort technique to address variable patterns of abdominal wall weakness. ( 28373000 )
2017
5
Prune Belly Syndrome with Sacrococcygeal Teratoma. ( 28593491 )
2017
6
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. ( 28779237 )
2017
7
Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula. ( 28770135 )
2017
8
It's not All Doom and Gloom: Prune Belly Syndrome Associated with VACTERL. ( 27433451 )
2016
9
Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography. ( 26826943 )
2016
10
Commentary to "Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography". ( 26899983 )
2016
11
Clinical manifestations of prune belly syndrome. ( 27252342 )
2016
12
Regarding commentary to: Detailed evaluation of the upper urinary tract in patients with Prune Belly Syndrome using magnetic resonance urography. ( 27102933 )
2016
13
Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome. ( 26729223 )
2016
14
Prune Belly Syndrome with Situs Inversus Abdominus. ( 27433456 )
2016
15
Further evidence of the etiology of prune belly syndrome provided by a transient massive intraabdominal cyst in a female. ( 27287284 )
2016
16
Abdominoplasty in Prune Belly Syndrome. ( 26227565 )
2015
17
Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. ( 25444629 )
2015
18
Suspected Urine Leak in a Pediatric Renal Transplant Patient With Prune Belly Syndrome. ( 26447390 )
2015
19
Health-Related Quality of Life in Children with Prune Belly Syndrome and Their Caregivers. ( 26453837 )
2015
20
Seminoma in Cryptorchid Testis in Prune Belly Syndrome. ( 26057338 )
2015
21
Megaureter detection through renal scintigraphy scan: Prune-Belly syndrome. ( 26718669 )
2015
22
27 years of experience with the comprehensive surgical treatment of prune belly syndrome. ( 26143487 )
2015
23
Prune Belly syndrome: A rare case report. ( 25810678 )
2015
24
PRUNE BELLY SYNDROME. ( 26721059 )
2015
25
Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. ( 26231776 )
2015
26
Urachal bladder in kidney transplanted patient with Prune Belly syndrome and patent urachus. ( 25733182 )
2015
27
A First Description of Prune Belly Syndrome in Central Africa. ( 25937487 )
2015
28
Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings. ( 25548711 )
2014
29
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. ( 24998021 )
2014
30
Prune belly syndrome: early management outcome of nine consecutive cases. ( 24909464 )
2014
31
Anesthetic experience of a patient with Prune-belly syndrome. ( 25598927 )
2014
32
Structural Study of Gubernaculum Testis in Fetuses with Prune Belly Syndrome. ( 25301093 )
2014
33
Prune belly syndrome with urethral hypoplasia and vesico-cutaneous fistula: A case report and review of literature. ( 24311916 )
2013
34
Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. ( 24328013 )
2013
35
Oral manifestations associated with systemic complications of prune belly syndrome. ( 22901648 )
2013
36
Prune belly syndrome, splenic torsion, and malrotation: a case report. ( 23414901 )
2013
37
A Case of Prune Belly Syndrome. ( 23639747 )
2013
38
Laparoscopic-assisted surgical reconstruction of a rare congenital abdominal wall defect in two children misdiagnosed with prune-belly syndrome. ( 23270915 )
2013
39
A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management. ( 23651554 )
2013
40
Prune belly syndrome with congenital pouch colon. ( 23798812 )
2013
41
Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. ( 22506933 )
2013
42
Normal live births after intracytoplasmic sperm injection in a man with the rare condition of Eagle-Barrett syndrome (prune-belly syndrome). ( 23993927 )
2013
43
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
44
Modified Abdominoplasty for Patients With the Prune Belly Syndrome. ( 24231220 )
2013
45
Long-term follow-up of total abdominal wall reconstruction for prune belly syndrome. ( 22186524 )
2012
46
Dynamic abdominoplasty for the treatment of prune belly syndrome. ( 22929250 )
2012
47
Prune Belly Syndrome Associated with Full Spectrum of VACTERL in a New Born. ( 24027688 )
2012
48
Familial prune belly syndrome in a Nigerian family. ( 22382231 )
2012
49
Prune belly syndrome. ( 22198807 )
2012
50
Genetic basis of prune belly syndrome: screening for HNF1I^ gene. ( 22114815 )
2012

Variations for Prune Belly Syndrome

ClinVar genetic disease variations for Prune Belly Syndrome:

6
id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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