Ochoa syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Inverted smile - neurogenic bladder
Urofacial syndrome
Partial facial palsy with urinary abnormalities
Hydronephrosis - inverted smile
Number of Symptoms 17
OrphanetNr: 2704
OMIM Id: 236730
615112
ICD-10:
UMLs: C0403555
MeSH: C536480
MedDRA:
Snomed: 236533008

Prevalence, inheritance and age of onset:

Prevalence: > 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000010) Recurrent urinary tract infections Very frequent [Orphanet] 56 / 7739
3
 (HPO:0010481) Urethral valve 7 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
6
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
7
 (HPO:0000805) Enuresis 11 / 7739
8
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
9
 (HPO:0000028) Cryptorchidism 347 / 7739
10
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
11
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
12
 (HPO:0005346) Abnormal facial expression 2 / 7739
13
 (HPO:0001999) Abnormal facial shape 169 / 7739
14
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
15
 (HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
16
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: