MCID: PNS015
MIFTS: 25

Penoscrotal Transposition

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Penoscrotal Transposition

MalaCards integrated aliases for Penoscrotal Transposition:

Name: Penoscrotal Transposition 52 58 71
Congenital Transposition of the Penis 52
Prepenile Scrotum 52

Characteristics:

Orphanet epidemiological data:

58
penoscrotal transposition
Inheritance: Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C536650
ICD10 via Orphanet 33 Q55.8
UMLS via Orphanet 72 C1868854
Orphanet 58 ORPHA2842
UMLS 71 C1868854

Summaries for Penoscrotal Transposition

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2842 Definition Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system , cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). Visit the Orphanet disease page for more resources.

MalaCards based summary : Penoscrotal Transposition, also known as congenital transposition of the penis, is related to hypospadias and lipomatosis, multiple, and has symptoms including pain in scrotum Affiliated tissues include kidney, heart and testes, and related phenotypes are pectus carinatum and micrognathia

Related Diseases for Penoscrotal Transposition

Graphical network of the top 20 diseases related to Penoscrotal Transposition:



Diseases related to Penoscrotal Transposition

Symptoms & Phenotypes for Penoscrotal Transposition

Human phenotypes related to Penoscrotal Transposition:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
4 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
5 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
6 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
7 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
8 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
9 abnormality of the ureter 58 31 hallmark (90%) Very frequent (99-80%) HP:0000069
10 renal agenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000104
11 renal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000110
12 penoscrotal transposition 58 31 hallmark (90%) Very frequent (99-80%) HP:0100600
13 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
14 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
15 shawl scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000049
16 dimple chin 31 frequent (33%) HP:0010751
17 patellar aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006443
18 chin dimple 58 Frequent (79-30%)
19 abnormality of the genital system 58 Very frequent (99-80%)
20 abnormality of the urethra 58 Very frequent (99-80%)
21 abnormal external genitalia 58 Very frequent (99-80%)

UMLS symptoms related to Penoscrotal Transposition:


pain in scrotum

Drugs & Therapeutics for Penoscrotal Transposition

Search Clinical Trials , NIH Clinical Center for Penoscrotal Transposition

Genetic Tests for Penoscrotal Transposition

Anatomical Context for Penoscrotal Transposition

MalaCards organs/tissues related to Penoscrotal Transposition:

40
Kidney, Heart, Testes

Publications for Penoscrotal Transposition

Articles related to Penoscrotal Transposition:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Ectopias of the kidney, urinary tract organs, and male genitalia. 61
30446779 2019
2
Mid- to long-term outcomes of the 'anatomical approach' to congenital megaprepuce repair. 61
30878211 2019
3
Keloid formation after pediatric male genital surgeries: an uncommon and difficult problem to manage. 61
30206024 2019
4
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 61
30224237 2018
5
Can sacral development as a marker for caudal regression help identify associated urologic anomalies in patients with anorectal malformation? 61
29680275 2018
6
[Ectopias of the kidney, urinary tract organs, and male genitalia. German version.] 61
30135974 2018
7
Penoscrotal Transposition to Achieve Urethral Continuity After Long-Segment Urethral Defect: A Case Report. 61
29737937 2018
8
Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered? 61
29610178 2018
9
Surgical correction of ectopic penis and scrotum associated with bilateral orchidopexy. 61
28767923 2017
10
A rare case of complete penoscrotal transposition with hypospadias in a newborn. 61
28913140 2017
11
[Plasty method for penoscrotal transposition]. 61
30066992 2016
12
A New Modification of the Koyanagi Technique for the One-stage Repair of Severe Hypospadias. 61
27041473 2016
13
Modification of the Koyanagi Technique for the Single-Stage Repair of Proximal Hypospadias. 61
27176562 2016
14
Correcting Glanular Dislocation in Hypospadias With Up-to-Tip Technique and Double Wing Flaps. 61
25003422 2016
15
Prenatal Features of Bladder Agenesis in a Female Fetus with Genital Transposition. 61
26720091 2016
16
Prepubertal diagnosis of Klinefelter syndrome due to penoscrotal malformations: Case report and review of literature. 61
26029310 2015
17
Further analysis of the Glans-Urethral Meatus-Shaft (GMS) hypospadias score: correlation with postoperative complications. 61
25797855 2015
18
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. 61
25257745 2015
19
Complete penoscrotal transposition: case report and review of the literature. 61
25115217 2015
20
The contemporary role of 1 vs. 2-stage repair for proximal hypospadias. 61
26813851 2014
21
M-plasty for correction of incomplete penoscrotal transposition. 61
25489538 2014
22
[Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias. A case report]. 61
24974632 2014
23
Comparative outcomes of the tubularized incised plate and transverse island flap onlay techniques for the repair of proximal hypospadias. 61
24061766 2014
24
Spectrum of penoscrotal positional anomalies in children. 61
25110332 2014
25
Prepenile scrotum- an extreme form of penoscrotal transposition. 61
26023469 2013
26
Modified koyanagi repair for severe hypospadias. 61
24019639 2013
27
Penoscrotal transposition: a case report. 61
24426391 2013
28
Complete penoscrotal transposition: A three-stage procedure. 61
23450271 2012
29
Prenatal diagnosis of penoscrotal transposition with 2- and 3-dimensional ultrasonography. 61
21968491 2011
30
[Koyanagi technique for repairing proximal hypospadias with penoscrotal transposition]. 61
22097313 2011
31
Z-plasty for sculpturing of the bifid scrotum in severe hypospadias associated with penoscrotal transposition. 61
21527222 2011
32
[Surgical correction of penoscrotal transposition with hypospadias: experience with 83 cases]. 61
21404712 2011
33
Correction of incomplete penoscrotal transposition by a modified Glenn-Anderson technique. 61
20859026 2010
34
Successful surgical correction of an extreme form of ectopic penis. 61
20153699 2010
35
[One-stage urethroplasty with circumferential vascular pedicle preputial island flap for perineal hypospadias]. 61
21046770 2010
36
Extreme penoscrotal transposition. 61
20143219 2010
37
Fetal diagnosis of penoscrotal transposition associated with perineal lipoma in one twin. 61
20215739 2010
38
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. 61
19842194 2009
39
Prenatal diagnosis of lower urinary tract obstruction associated with penoscrotal transposition. 61
19777542 2009
40
Angiographic demonstration of an aberrant abdominal umbilical artery in a patient with penoscrotal transposition and caudal regression. 61
18795221 2009
41
Our 21-year experience with the Thiersch-Duplay technique following surgical correction of penoscrotal transposition. 61
19172093 2009
42
[Our experience in the treatment of proximal hypospadias in a single surgical intervention]. 61
19323075 2009
43
Bladder agenesis in a male neonate. 61
18970912 2008
44
Long-term followup of dermal grafts for repair of severe penile curvature. 61
18721971 2008
45
Perineal lipoma associated with penoscrotal transposition in a neonate. 61
20011504 2008
46
Congenital megaprepuce: a new alternative technique for surgical correction. 61
18601761 2008
47
Chromosome deletions in 13q33-34: report of four patients and review of the literature. 61
18203171 2008
48
Male genitoplasty for intersex disorders. 61
19009033 2008
49
Outcome analysis of severe chordee correction using tunica vaginalis as a flap in boys with proximal hypospadias. 61
17707021 2007
50
Comparative analysis of tubularized incised plate versus onlay island flap urethroplasty for penoscrotal hypospadias. 61
17706707 2007

Variations for Penoscrotal Transposition

Expression for Penoscrotal Transposition

Search GEO for disease gene expression data for Penoscrotal Transposition.

Pathways for Penoscrotal Transposition

GO Terms for Penoscrotal Transposition

Sources for Penoscrotal Transposition

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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