PELVIS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus
Urorectal septum malformation sequence
Number of Symptoms 16
OrphanetNr: 83628
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Unclassified genetic skin disease
 -Rare genetic disease
 -Rare skin disease
Vascular tumor
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
5
 (HPO:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
6
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
7
 (HPO:0008714) Ureterovesical stenosis Frequent [Orphanet] 10 / 7739
8
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
9
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
10
 (HPO:0002475) Myelomeningocele Occasional [Orphanet] 29 / 7739
11
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
12
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
13
 (HPO:0100548) Exstrophy Frequent [Orphanet] 4 / 7739
14
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
15
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
16
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: