UROFACIAL SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYDRONEPHROSIS WITH PECULIAR FACIAL EXPRESSION
OCHOA SYNDROME
UROFACIAL SYNDROME
FACIAL PALSY, PARTIAL, WITH URINARY ABNORMALITIES
INVERTED SMILE AND OCCULT NEUROPATHIC BLADDER
UFS1
UFS
Number of Symptoms 12
OrphanetNr:
OMIM Id: 236730
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000796) Urethral obstruction 3 / 7739
2
(HPO:0000010) Recurrent urinary tract infections 56 / 7739
3
(HPO:0000126) Hydronephrosis 119 / 7739
4
(HPO:0010957) Congenital posterior urethral valve 9 / 7739
5
(HPO:0010481) Urethral valve 7 / 7739
6
(HPO:0000805) Enuresis 11 / 7739
7
(HPO:0000072) Hydroureter 146 / 7739
8
(HPO:0000028) Cryptorchidism 347 / 7739
9
(OMIM) Mild neuropathic bladder 1 / 7739
10
(OMIM) Peculiar facies 7 / 7739
11
(OMIM) Constipation, moderate to severe 1 / 7739
12
(OMIM) Crying facial expression when laughing 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders ...
Clinical Description OMIM In 3 unrelated families Elejalde (1979) observed 7 children with hydronephrosis, hydroureter and a peculiar facial expression, mainly when smiling or crying. Urethral valves, as well as urethral obstruction, were demonstrated in some. All 3 males had cryptorchidism. ...
Molecular genetics OMIM In a patient from a Colombian family with urofacial syndrome mapping to chromosome 10q24, Pang et al. (2010) analyzed multiple candidate genes and identified homozygosity for a nonsense mutation in HPSE2 (613469.0001). Analysis of 5 more Colombian UFS ...