Penoscrotal transposition

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2842
OMIM Id:
ICD-10: Q55.8
UMLs: C1868854
MeSH: C536650
MedDRA: 10067287
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
X-linked recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic urogenital tract malformation of male
 -Rare developmental defect during embryogenesis
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
2
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
3
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
4
 (HPO:0000069) Abnormality of the ureter Very frequent [Orphanet] 47 / 7739
5
 (HPO:0000795) Abnormality of the urethra Very frequent [Orphanet] 38 / 7739
6
 (HPO:0100542) Abnormal localization of kidney Very frequent [Orphanet] 64 / 7739
7
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
8
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
9
 (HPO:0010751) Chin dimple Frequent [Orphanet] 16 / 7739
10
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
11
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
12
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
13
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
14
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
15
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
16
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
17
 (HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
18
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 192 / 7739
19
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: