Urofacial syndrome 1

Preferred Label : Urofacial syndrome 1;

Symbol : UFS1;

CISMeF acronym : UFS; UFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : UFS; Ochoa syndrome; Hydronephrosis with peculiar facial expression; Facial palsy, partial, with urinary abnormalities; Inverted smile and occult neuropathic bladder; Urofacial syndrome;

Description : 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 and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). - Genetic Heterogeneity of Urofacial Syndrome Urofacial syndrome-2 (UFS2; 615112) is caused by mutation in the LRIG2 gene (608869) on chromosome 1p13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the heparanase-2 gene (HPSE2, 613469.0001);

Prefixed ID : #236730;

Details

Origin ID

236730;

UMLS CUI

C0403555;

Automatic exact mappings (from CISMeF team)
- Ochoa syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ochoa syndrome [ORDO Disease]
- Ochoa syndrome (disorder) [SNOMED CT concept]
- Urofacial syndrome [MeSH concept]
- urofacial syndrome [DO Concept]
- urofacial syndrome [MeSH Supplementary Concept]
DO Cross reference
- urofacial syndrome [DO Concept]
Genes related to phenotype
- Heparanase 2 [OMIM gene]
HPO term(s)
- Abnormal facial expression [HPO term]
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Enuresis [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Recurrent urinary tract infections [HPO term]
- Urethral obstruction [HPO term]
- Urethral valve [HPO term]
- Urinary tract infections [HPO term]
ORDO concept(s)
- Ochoa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ochoa syndrome [ORDO Disease]
- Ochoa syndrome [MedDRA LLT]
- Ochoa syndrome (disorder) [SNOMED CT concept]
- Urofacial syndrome [MeSH concept]
- Urofacial syndrome [MedDRA Preferred Term]
- urofacial syndrome [MeSH Supplementary Concept]
- urofacial syndrome [DO Concept]

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