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Urofacial syndrome

Urofacial syndrome is an autosomal recessive disorder caused by mutations of the HPSE2 gene. It is characterized by a typical facial expression and bladder voiding dysfunction.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Garcia-Minaur S et al. (2001) Three new European cases of urofacial (Ochoa) syndrome.

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Aydogdu O et al. (2010) Ochoa syndrome: a spectrum of urofacial syndrome.

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Derbent M et al. (2009) Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?

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Pang J et al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

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Daly SB et al. (2010) Mutations in HPSE2 cause urofacial syndrome.

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None (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome".

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Teebi AS et al. (1989) Urofacial syndrome.

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Ochoa B et al. (1987) Urofacial (ochoa) syndrome.

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Wang CY et al. (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.

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Wang CY et al. (1999) Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene.

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Chauve X et al. (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

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Wang CY et al. (2003) High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.

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OMIM.ORG article

Omim 236730 external link

Orphanet article

Orphanet ID 2704 external link

Wikipedia article

Wikipedia EN (Urofacial_syndrome) external link
Update: Aug. 14, 2020
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