Urofacial syndrome 2

Preferred Label : Urofacial syndrome 2;

Symbol : UFS2;

CISMeF acronym : UFS2;

Type : Phenotype, molecular basis known;

Description : Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013). For a discussion of genetic heterogeneity of UFS, see UFS1 (236730).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 gene (LRIG2, 608869.0001);

Prefixed ID : #615112;

Details

Origin ID

615112;

UMLS CUI

C3554520;

DO Cross reference
- urofacial syndrome [DO Concept]
Genes related to phenotype
- Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Enuresis [HPO term]
- Hydronephrosis [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal insufficiency [HPO term]
- Urinary urgency [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Ochoa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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