Fowler urethral sphincter dysfunction syndrome
Synonyms: Fowler syndrome · Fowler-Christmas-Chapple syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fowler urethral sphincter dysfunction syndrome | Fowler syndrome · Fowler-Christmas-Chapple syndrome |
| fr | Syndrome de dysfonctionnement du sphincter urétral de Fowler | Syndrome de Fowler · Syndrome de Fowler-Christmas-Chapple |
| de | Fowler-Syndrom der Dysfunktion des urethralen Sphinkters | Fowler-Christmas-Chapple-Syndrom |
| es | Síndrome de ovarios poliquísticos-disfunción del esfínter uretral | Síndrome de Fowler-Christmas-Chapple |
| it | Disfunzione dello sfintere uretrale di Fowler | Sindrome di Fowler-Christmas-Chapple |
| nl | Polycystische ovaria - urethrale sfincterdisfunctie-syndroom | Syndroom van Fowler-Christmas-Chapple |
| pt | Síndrome de disfunção do esfíncter uretral Fowler | Síndrome Fowler · Síndrome Fowler-Christmas-Chapele |
| pl | Policystyczne jajniki - dysfunkcja zwieracza cewki moczowej | Zespół Fowlera, Christmasa i Chapple'a |
| cs | Syndrom zahrnující polycystická ovaria a dysfunkci svěrače uretry | Syndrom Fowlerové |
| uk | Синдром дисфункції сфінктера уретри Фаулера | Синдром Фаулера · Синдром Фаулера-Крістмаса-Чеппела |
| zh | Fowler尿道括约肌功能失调综合征 | Fowler-Christmas-Chapple综合征 |
| tr | Fowler üretral sfinkter disfonksiyon sendromu | Fowler sendromu · Fowler-Christmas-Chapple sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | N36.8 | NTBT | attributed | validated |
| ICD-11 | GC01.4 | NTBT | attributed | validated |
| MeSH | C537271 | E | validated | |
| UMLS | C2931462 | E | validated | |
| GARD | 2365 | E | validated | |
| MedDRA | 10071718 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101433Rare urogenital disease
rare urogenital diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 3147005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3147005[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000795 | Abnormality of the urethra | |
| HP:0100518 | Dysuria | |
| HP:0003457 | EMG abnormality | |
| HP:0000147 | Polycystic ovaries | |
| Occasional (29-5%) | ||
| HP:0001061 | Acne | |
| HP:0001007 | Hirsutism | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000016 | Urinary retention | |
| Very rare (<4-1%) | ||
| HP:0000137 | Abnormality of the ovary | |
| HP:0000141 | Amenorrhea | |
| HP:0000132 | Menorrhagia | |
| HP:0000020 | Urinary incontinence | |
Annotation source: 3147005[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2795
- This record as JSON: /data/d/2795.json