Polycystic ovaries - urethral sphincter dysfunction

General Information (adopted from Orphanet):

Synonyms, Signs: Fowler-Christmas-Chapple syndrome
Number of Symptoms 17
OrphanetNr: 2795
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 33 cases [Orphanet]
Inheritance:
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare non-malformative uterine adnexal disease
 -Rare gynecologic or obstetric disease
Rare urogenital disease
 -Rare urogenital disease

Comment:

Symptom Information: Sort by abundance 

1
 (HPO:0000138) Ovarian cyst Very frequent [Orphanet] hallmark [HPO] 25 / 7739
2
 (HPO:0000068) Urethral atresia Very frequent [Orphanet] 8 / 7739
3
 (HPO:0008675) Enlarged polycystic ovaries Very frequent [Orphanet] hallmark [HPO] 14 / 7739
4
 (HPO:0000021) Megacystis Very frequent [Orphanet] 7 / 7739
5
 (HPO:0010481) Urethral valve Very frequent [Orphanet] 7 / 7739
6
 (HPO:0000795) Abnormality of the urethra Very frequent [Orphanet] 38 / 7739
7
 (HPO:0008661) Urethral stenosis Very frequent [Orphanet] 9 / 7739
8
 (HPO:0010956) Fetal megacystis Very frequent [Orphanet] 5 / 7739
9
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
10
 (HPO:0010957) Congenital posterior urethral valve Very frequent [Orphanet] 9 / 7739
11
 (HPO:0000147) Polycystic ovaries Very frequent [Orphanet] 18 / 7739
12
 (HPO:0001061) Acne Very frequent [Orphanet] 33 / 7739
13
 (HPO:0001007) Hirsutism Very frequent [Orphanet] hallmark [HPO] 91 / 7739
14
 (HPO:0000998) Hypertrichosis Very frequent [Orphanet] 52 / 7739
15
 (HPO:0002230) Generalized hirsutism Very frequent [Orphanet] hallmark [HPO] 32 / 7739
16
 (HPO:0004554) Generalized hypertrichosis Very frequent [Orphanet] hallmark [HPO] 30 / 7739
17
 (Orphanet:37400) Bladder and ureter anomalies Very frequent [Orphanet] 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: