Aliases & Classifications for Bladder Diverticulum

MalaCards integrated aliases for Bladder Diverticulum:

Name: Bladder Diverticulum 57 12 44 15
Diverticulum of Bladder 12 6 32
Diverticulum - Bladder 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
bladder diverticulum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11353
OMIM® 57 109820
ICD9CM 34 596.3
MeSH 44 C562406
NCIt 50 C160155
SNOMED-CT 67 268335001
ICD10 32 N32.3
MedGen 41 C0156273
UMLS 70 C0156273

Summaries for Bladder Diverticulum

MalaCards based summary : Bladder Diverticulum, also known as diverticulum of bladder, is related to prostatic hypertrophy and inguinal hernia. An important gene associated with Bladder Diverticulum is EFEMP1 (EGF Containing Fibulin Extracellular Matrix Protein 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include prostate, kidney and spinal cord, and related phenotypes are hematuria and recurrent urinary tract infections

More information from OMIM: 109820

Related Diseases for Bladder Diverticulum

Diseases related to Bladder Diverticulum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 prostatic hypertrophy 30.1 KLK3 EPPIN
2 inguinal hernia 30.0 LOX FBLN5 ELN EFEMP1
3 pelvic organ prolapse 29.4 LOX FBLN5 ELN
4 menkes disease 29.2 LOX ELN DBH CP ATP7A
5 scoliosis 28.6 LTBP4 LOX FBLN5 ELN EFEMP1 CP
6 stone in bladder diverticulum 11.2
7 urinary tract infection 10.5
8 transitional cell carcinoma 10.4
9 vesicoureteral reflux 1 10.3
10 acute cystitis 10.3
11 hydronephrosis 10.3
12 carcinosarcoma 10.3
13 urinary tract obstruction 10.2
14 neurogenic bladder 10.2
15 ehlers-danlos syndrome 10.2
16 dopamine beta-hydroxylase deficiency 10.2 DBH ATP7A
17 squamous cell carcinoma 10.1
18 prostatic adenoma 10.1
19 ureteral obstruction 10.1
20 peritonitis 10.1
21 hemosiderosis 10.1 EPPIN CP
22 cutis laxa, autosomal recessive, type iid 10.1 LTBP4 ATP6V0A2
23 spinal muscular atrophy, distal, x-linked 3 10.1 DBH CP ATP7A
24 osteogenic sarcoma 10.1
25 small cell carcinoma 10.1
26 pyelonephritis 10.1
27 cystitis 10.1
28 leiomyosarcoma 10.1
29 adenoma 10.1
30 nephrogenic adenoma 10.1
31 intestinal obstruction 10.1
32 meester-loeys syndrome 10.1 SLC2A10 EFEMP2
33 basal laminar drusen 10.1 FBLN5 EFEMP1
34 loeys-dietz syndrome 3 10.0 SLC2A10 EFEMP2
35 aortic valve insufficiency 10.0 ELN EFEMP2
36 retinal drusen 10.0 FBLN5 EFEMP1
37 acquired cutis laxa 10.0 FBLN5 ELN
38 mid-dermal elastolysis 10.0 FBLN5 ELN
39 bladder cancer 10.0
40 ehlers-danlos syndrome, classic type, 1 10.0
41 prostatic hyperplasia, benign 10.0
42 chronic pyelonephritis 10.0
43 low compliance bladder 10.0
44 malignant fibrous histiocytoma 10.0
45 bladder urothelial carcinoma 10.0
46 fibrous histiocytoma 10.0
47 ovarian cyst 10.0
48 kidney disease 10.0
49 acute pyelonephritis 10.0
50 ileus 10.0

Graphical network of the top 20 diseases related to Bladder Diverticulum:



Diseases related to Bladder Diverticulum

Symptoms & Phenotypes for Bladder Diverticulum

Human phenotypes related to Bladder Diverticulum:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hematuria 31 HP:0000790
2 recurrent urinary tract infections 31 HP:0000010
3 dysuria 31 HP:0100518
4 urinary hesitancy 31 HP:0000019
5 urethral sphincter sclerosis 31 HP:0008664
6 solitary bladder diverticulum 31 HP:0008691
7 prominent prostate median bar 31 HP:0008742

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
hematuria
dysuria
urinary hesitancy
urethral sphincter sclerosis
solitary bladder diverticulum
more

Clinical features from OMIM®:

109820 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Bladder Diverticulum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 ATP7A CP DBH EFEMP1 EFEMP2 FBLN5
2 integument MP:0010771 9.76 ATP6V0A2 ATP7A DBH EFEMP1 EFEMP2 FBLN5
3 muscle MP:0005369 9.5 ATP7A EFEMP1 EFEMP2 FBLN5 KLK3 LOX
4 respiratory system MP:0005388 9.1 ATP7A EFEMP2 FBLN5 LOX LTBP4 SLC2A10

Drugs & Therapeutics for Bladder Diverticulum

Search Clinical Trials , NIH Clinical Center for Bladder Diverticulum

Cochrane evidence based reviews: bladder diverticulum

Genetic Tests for Bladder Diverticulum

Anatomical Context for Bladder Diverticulum

MalaCards organs/tissues related to Bladder Diverticulum:

40
Prostate, Kidney, Spinal Cord, Colon, Ovary, Cervix, Bone

Publications for Bladder Diverticulum

Articles related to Bladder Diverticulum:

(show top 50) (show all 461)
# Title Authors PMID Year
1
Hereditary autosomal dominant form of bladder diverticula in male patients. 57 61
6422057 1984
2
Unsuspected Bladder Diverticulum Resulted in False-Positive 68Ga-DOTATATE Uptake. 61
33661198 2021
3
Mature Ovarian Cystic Teratoma Mimicking a Bladder Diverticulum in a 16-year-old Female. 61
32916187 2021
4
Ureteral reimplantation aligned laparoscopically: Pneumovesicoscopic Politano-Leadbetter reimplantation in children. 61
33637456 2021
5
Robotic surgery in paediatric patients: Our initial experience and roadmap for successful implementation of robotic surgery programme. 61
31670291 2021
6
Prenatal hydronephrosis revealing a bladder diverticulum. 61
33102132 2021
7
Urothelial Carcinoma in Bladder Diverticula: A Multicenter Analysis of Characteristics and Clinical Outcomes. 61
30559065 2020
8
Spontaneous bladder diverticulum rupture due to a squamous cell carcinoma of the bladder: a case report. 61
33294156 2020
9
Bladder perforation caused by long-term catheterization misdiagnosed as digestive tract perforation: A case report. 61
33195672 2020
10
Bilateral ureteric re-implant for an 18 months old boy with a huge bilateral hutch diverticulum presented with recurrent urinary retention. 61
32322530 2020
11
Robot-assisted laparoscopic diverticulectomy with ureteral reimplantation. 61
32762952 2020
12
Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X). 61
32715272 2020
13
Shortness of Breath Secondary to a Massive Bladder Diverticulum: A Unique Transvesical Repair. 61
32473938 2020
14
A Rare Case of Acute Urinary Bladder Diverticulitis Mimicking Acute Appendicitis. 61
32780730 2020
15
[A Case of Pelvic Organ Prolapse and Bladder Diverticulum Surgically Treated at the Same Time]. 61
32882124 2020
16
Incarcerated Bladder Diverticulum in a Femoral Hernia Presenting as Recurrent Hematuria. 61
32923274 2020
17
Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report. 61
32480169 2020
18
Successful conservative management of a spontaneous intraperitoneal rupture of bladder diverticulum in a critical patient: A case report. A CARE-compliant article. 61
32049867 2020
19
Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease. 61
31758979 2020
20
A huge bladder diverticulum in an elderly: A case report. 61
33282311 2020
21
Unorthodox cause of urinary leak post radical prostatectomy: Catheter balloon within a bladder diverticulum - Case report and highlights on various methods to overcome leaks. 61
32062506 2020
22
A case of ileus surgery using the water pressure method against ileus caused by incarceration into the inverted bladder diverticulum. 61
31919696 2020
23
Pleomorphic malignant fibrous histiocytoma in bladder diverticulum. 61
31788429 2020
24
Spontaneous Intraperitoneal Rupture of Bladder Diverticulum: A Rare Cause of Peritonitis. 61
33343963 2020
25
Management of Intradiverticular Bladder Tumours: A Systematic Review. 61
31851992 2020
26
Serial voiding urosonography in posterior urethral valve diagnosis and management in pediatric patients. 61
32166922 2020
27
Endoscopic balloon dilatation of primary obstructive megaureter: method standardization and predictive prognostic factors. 61
31867939 2019
28
[A Case of Neurofibromatosis Type 1 Presenting Voiding Symptoms Caused by Giant Bladder Diverticulum]. 61
31933336 2019
29
Computed tomographic retrograde positive contrast cystography and computed tomographic excretory urography characterization of a urinary bladder diverticulum in a dog. 61
29333663 2019
30
Detailed presurgical evaluation of a case of congenital bladder diverticulum. 61
31687345 2019
31
Transurethral endoscopic approach for large bladder diverticula: Evaluation of a large series. 61
31577098 2019
32
Comparing complications of urethral stricture across various ages: a retrospective analysis of findings from retrograde urethrogram and voiding cysto-urethrogram over 10 years. 61
31664932 2019
33
Delayed diagnosis of spontaneous rupture of a congenital bladder diverticulum as a rare cause of an acute abdomen. 61
29772606 2019
34
Inflammatory myofibroblastic bladder tumor with divergent behavior in a patient with spinal cord injury. 61
32743416 2019
35
Robot-assisted bladder diverticulectomy sequentially followed by robot-assisted radical prostatectomy: a case series. 61
29982904 2019
36
Robot-assisted surgery for benign distal ureteral strictures: step-by-step technique using the SP® surgical system. 61
30499629 2019
37
Robotic-assisted bladder diverticulectomy: point of technique to identify the diverticulum. 61
29453730 2019
38
Simultaneous Laparoscopic Surgery for Bladder Diverticulum and Urachal Remnant: A Case Report. 61
31559104 2019
39
Congenital bladder diverticulum in a child: Surgical steps of extra-vesical excision. 61
30406018 2019
40
A population-based cohort study examining the association of documented bladder diverticulum and bladder cancer risk in urology patients. 61
31613877 2019
41
Urothelial Carcinoma Recurrence in an Orthotopic Neobladder without Urethral or Upper Urinary Tract Involvement. 61
30949373 2019
42
Co-existence of endometriosis with 13 non-gynecological co-morbidities: Mutation analysis by whole exome sequencing. 61
30272298 2018
43
Diagnostic Classification of Cystoscopic Images Using Deep Convolutional Neural Networks. 61
30652604 2018
44
[Management of the bladder outlet obstruction associated with BPH in patients with special circumstances and/or complications]. 61
30220535 2018
45
Labial swelling; anterior perineal herniation of urinary bladder diverticulum. 61
29604286 2018
46
Urothelial carcinoma arising from a bladder diverticulum containing multiple stones: A case report. 61
30035095 2018
47
Spontaneous rupture of urinary bladder diverticulum with pseudo-acute renal failure. 61
29383475 2018
48
[A cause of acute renal dysfunction: a giant bladder diverticulum]. 61
29582959 2018
49
Bilateral Obstructive Uropathy Caused by Congenital Bladder Diverticulum Presenting as Hypertensive Retinopathy. 61
29441752 2018
50
Congenital Bladder Diverticulum in Adults: A Case Report and Review of the Literature. 61
29568661 2018

Variations for Bladder Diverticulum

ClinVar genetic disease variations for Bladder Diverticulum:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) Deletion Pathogenic 691884 rs1572850869 GRCh37: 2:56144993-56144997
GRCh38: 2:55917858-55917862
2 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) SNV Pathogenic 691885 rs765517862 GRCh37: 2:56108772-56108772
GRCh38: 2:55881637-55881637

Expression for Bladder Diverticulum

Search GEO for disease gene expression data for Bladder Diverticulum.

Pathways for Bladder Diverticulum

Pathways related to Bladder Diverticulum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 LTBP4 LOX FBLN5 ELN EFEMP2 EFEMP1
2
Show member pathways
10.96 LTBP4 LOX FBLN5 ELN EFEMP2 EFEMP1
3 10.36 LTBP4 ELN EFEMP2 EFEMP1

GO Terms for Bladder Diverticulum

Cellular components related to Bladder Diverticulum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 LTBP4 LOX KLK3 FBLN5 EPPIN EFEMP2
2 extracellular region GO:0005576 9.85 LTBP4 LOX KLK3 FBLN5 EPPIN ELN
3 collagen-containing extracellular matrix GO:0062023 9.72 LTBP4 FBLN5 ELN EFEMP2 EFEMP1
4 extracellular matrix GO:0031012 9.43 LTBP4 LOX FBLN5 ELN EFEMP2 EFEMP1
5 microfibril GO:0001527 9.37 LTBP4 EFEMP2
6 elastic fiber GO:0071953 8.8 FBLN5 ELN EFEMP2

Biological processes related to Bladder Diverticulum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood vessel remodeling GO:0001974 9.37 DBH ATP7A
2 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.32 LTBP4 LOX
3 aorta development GO:0035904 9.26 LOX EFEMP2
4 extracellular matrix organization GO:0030198 9.26 LOX FBLN5 ELN ATP7A
5 copper ion transport GO:0006825 9.16 CP ATP7A
6 elastic fiber assembly GO:0048251 9.02 LTBP4 LOX FBLN5 EFEMP2 ATP7A

Molecular functions related to Bladder Diverticulum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 LTBP4 ELN EFEMP2 EFEMP1
2 extracellular matrix constituent conferring elasticity GO:0030023 9.16 FBLN5 ELN
3 copper ion binding GO:0005507 8.92 LOX DBH CP ATP7A

Sources for Bladder Diverticulum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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