MCID: EGL002
MIFTS: 33

Eagle-Barrett Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Respiratory diseases categories

Summaries for Eagle-Barrett Syndrome

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NIH Rare Diseases:41 Prune belly syndrome, also called eagle-barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like";  (2) undescended testicles in males; and (3) urinary tract problems. the incidence of prune belly syndrome (pbs) is 1 in 40,000 births; 95% of cases occur in boys. the severity of symptoms in infants with prune belly syndrome can vary greatly from child to child.  at one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than  undescended testicle repair in males. the cause of the condition is unknown. last updated: 5/18/2009

MalaCards based summary: Eagle-Barrett Syndrome, also known as prune belly syndrome, is related to urethritis and posterior urethral valves, and has symptoms including cryptorchidism, vesicoureteral reflux and decreased fertility. An important gene associated with Eagle-Barrett Syndrome is CHRM3 (cholinergic receptor, muscarinic 3). Affiliated tissues include skin, lung and testes.

OMIM:45 In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized... (100100) more...

Wikipedia:63 Prune belly syndrome, also referred to as abdominal muscle deficiency syndrome, congenital absence of... more...

Aliases & Classifications for Eagle-Barrett Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Eagle-Barrett Syndrome, Aliases & Descriptions:

Name: Eagle-Barrett Syndrome 45 10 41
Prune Belly Syndrome 41 47 60
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism 45 41
Abdominal Muscle Deficiency Syndrome 41 47
Urethral Obstruction Sequence 41 60
Eagle-Barret Syndrome 41 47
Obrinsky Syndrome 41 47
 
Renal Dysplasia or Hydronephrosis, Oligohydramnios and Subsequent Lung Hypoplasia Due to Urethral Obstruction 41
Congenital Absence of Abdominal Muscles 41
Early Urethral Obstruction Sequence 41
Fröhlich Syndrome 41
Triad Syndrome 47
Euos 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 100100
Orphanet47 2970
MESH via Orphanet34 C536477, D011535
ICD10 via Orphanet26 Q79.4
UMLS via Orphanet61 C0033770, C0265363
ICD1025 Q79.4

Related Diseases for Eagle-Barrett Syndrome

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Graphical network of the top 20 diseases related to Eagle-Barrett Syndrome:



Diseases related to eagle-barrett syndrome

Symptoms for Eagle-Barrett Syndrome

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Symptoms by clinical synopsis from OMIM:

100100

Clinical features from OMIM:

100100

Symptoms:

 47 (show all 34)
  • absent/hypotonic/flaccid abdominal wall muscles
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • bladder and ureter anomalies
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • rib structure anomalies
  • constipation
  • repeat respiratory infections
  • multicystic kidney/renal dysplasia
  • renal failure
  • recurrent urinary infections
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • oligoamnios
  • pectus excavatum
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • talipes-varus/metatarsal varus
  • intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum)
  • colonic/intestinal volvulus
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • tetralogy of fallot/trilogy of fallot
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • patent ductus arteriosus
  • uterine/uterus/fallopian tubes anomalies
  • urogenital sinus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • stillbirth/neonatal death

HPO human phenotypes related to Eagle-Barrett Syndrome:

(show all 42)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 vesicoureteral reflux hallmark (90%) HP:0000076
3 decreased fertility hallmark (90%) HP:0000144
4 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
5 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
6 multicystic kidney dysplasia typical (50%) HP:0000003
7 recurrent urinary tract infections typical (50%) HP:0000010
8 renal insufficiency typical (50%) HP:0000083
9 abnormality of the ribs typical (50%) HP:0000772
10 oligohydramnios typical (50%) HP:0001562
11 constipation typical (50%) HP:0002019
12 recurrent respiratory infections typical (50%) HP:0002205
13 pectus excavatum occasional (7.5%) HP:0000767
14 ventricular septal defect occasional (7.5%) HP:0001629
15 defect in the atrial septum occasional (7.5%) HP:0001631
16 tetralogy of fallot occasional (7.5%) HP:0001636
17 patent ductus arteriosus occasional (7.5%) HP:0001643
18 talipes occasional (7.5%) HP:0001883
19 intestinal malrotation occasional (7.5%) HP:0002566
20 volvulus occasional (7.5%) HP:0002580
21 scoliosis occasional (7.5%) HP:0002650
22 abnormality of the hip bone occasional (7.5%) HP:0003272
23 vertebral segmentation defect occasional (7.5%) HP:0003422
24 cognitive impairment occasional (7.5%) HP:0100543
25 urogenital fistula occasional (7.5%) HP:0100589
26 urogenital sinus anomaly occasional (7.5%) HP:0100779
27 autosomal recessive inheritance HP:0000007
28 cryptorchidism HP:0000028
29 hydroureter HP:0000072
30 hydronephrosis HP:0000126
31 xerostomia HP:0000217
32 pectus excavatum HP:0000767
33 pectus carinatum HP:0000768
34 abnormality of the skin HP:0000951
35 congenital hip dislocation HP:0001374
36 oligohydramnios HP:0001562
37 patent ductus arteriosus HP:0001643
38 talipes equinovarus HP:0001762
39 anal atresia HP:0002023
40 prune belly HP:0004392
41 aplasia of the abdominal wall musculature HP:0005199
42 congenital posterior urethral valve HP:0010957

Drugs & Therapeutics for Eagle-Barrett Syndrome

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Drug clinical trials:

Search ClinicalTrials for Eagle-Barrett Syndrome

Search NIH Clinical Center for Eagle-Barrett Syndrome

Genetic Tests for Eagle-Barrett Syndrome

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Anatomical Context for Eagle-Barrett Syndrome

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MalaCards organs/tissues related to Eagle-Barrett Syndrome:

31
Skin, Lung, Testes, Kidney, Bone, Colon, Uterus

Animal Models for Eagle-Barrett Syndrome or affiliated genes

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Publications for Eagle-Barrett Syndrome

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Articles related to Eagle-Barrett Syndrome:

idTitleAuthorsYear
1
Normal live births after intracytoplasmic sperm injection in a man with the rare condition of Eagle-Barrett syndrome (prune-belly syndrome). (23993927)
2013
2
Fetal Eagle-Barrett syndrome and pulmonary atresia with intact ventricular septum. (20201973)
2010
3
Pediatric case of the day. Prune-belly syndrome (Eagle-Barrett syndrome, triad syndrome). (9747626)
1998

Variations for Eagle-Barrett Syndrome

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Clinvar genetic disease variations for Eagle-Barrett Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CHRM3NM_000740.2(CHRM3): c.1173_1184delGCCTGAGGAGGAinsT (p.Pro392Alafs)indelPathogenicGRCh37Chr 1, 240071924: 240071935

Expression for genes affiliated with Eagle-Barrett Syndrome

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Search GEO for disease gene expression data for Eagle-Barrett Syndrome.

Pathways for genes affiliated with Eagle-Barrett Syndrome

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Compounds for genes affiliated with Eagle-Barrett Syndrome

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GO Terms for genes affiliated with Eagle-Barrett Syndrome

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Products for genes affiliated with Eagle-Barrett Syndrome

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Sources for Eagle-Barrett Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet