51 results match your criteria urofacial syndrome


Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.

J Pediatr Endocrinol Metab 2021 Feb 26. Epub 2021 Feb 26.

Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey.

Objectives: Ochoa syndrome (UFS1; Urofacial syndrome-1) is a very rare autosomal recessive disorder caused by mutations in the gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene ().

Case Presentation: Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep and splenomegaly. Read More

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February 2021

Elucidating the Consequences of Heparan Sulfate Binding by Heparanase 2.

Front Oncol 2020 29;10:627463. Epub 2021 Jan 29.

Technion Integrated Cancer Center, Rappaport Faculty of Medicine, Technion, Haifa, Israel.

Unlike the intense research effort devoted to exploring the significance of heparanase in human diseases, very little attention was given to its close homolog, heparanase 2 (Hpa2). The emerging role of Hpa2 in a rare autosomal recessive congenital disease called urofacial syndrome (UFS), clearly indicates that Hpa2 is not a pseudogene but rather a gene coding for an important protein. Hpa2 lacks the heparan sulfate (HS)-degrading activity typical of heparanase, yet exhibits high affinity to HS, affinity that is 10-fold higher than that of heparanase. Read More

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January 2021

Urofacial (ochoa) syndrome: A literature review.

J Pediatr Urol 2021 Jan 24. Epub 2021 Jan 24.

San Vicente Fundacion University Hospital. Division of Pediatric Urology and Surgery. Faculty of Medicine, Universidad de Antioquia. Medellin, Colombia.

The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying while smiling) associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is associated with autosomal recessive inheritance mutations in the HPSE2 gene, located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; however, in up to 16% of patients, no associated mutations have been found. Read More

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January 2021

Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.

Kidney Int Rep 2020 Oct 14;5(10):1823-1827. Epub 2020 Jul 14.

Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

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October 2020

Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.

Neurourol Urodyn 2020 09 1;39(7):1930-1938. Epub 2020 Jul 1.

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.

Aims: Urofacial syndrome (UFS) is an autosomal recessive disease characterized by detrusor contraction against an incompletely dilated outflow tract. This dyssynergia causes dribbling incontinence and incomplete voiding. Around half of individuals with UFS have biallelic mutations of HPSE2 that encodes heparanase 2, a protein found in pelvic ganglia and bladder nerves. Read More

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September 2020

Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.

Adv Exp Med Biol 2020 ;1221:807-819

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.

Urofacial syndrome (UFS) is a rare but potentially devastating autosomal recessive disease. It comprises both incomplete urinary bladder emptying and a facial grimace upon smiling. A subset of individuals with the disease has biallelic mutations of HPSE2, coding for heparanase-2. Read More

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Hpa2 Gene Cloning.

Authors:
Edward McKenzie

Adv Exp Med Biol 2020 ;1221:787-805

Faculty of Life Sciences, University of Manchester, Manchester, UK.

From 1999-2003, Oxford GlycoSciences (OGS) ran a successful drug discovery oncology programme to discover small molecule inhibitors of the Heparanase I enzyme (HPSE1). HPSE1 at the time was widely regarded as being the sole mammalian enzyme capable of cleaving Heparan Sulfate (HS). A second family protein member however called Heparanase 2 (HPSE2) including splice forms was subsequently discovered by PCR analysis based on EST sequences. Read More

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Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.

Front Pediatr 2019 11;7:136. Epub 2019 Apr 11.

Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.

The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then storing it at low pressure inside the bladder which intermittently and completely voids urine through the urethra. Congenital diseases of these structures can lead to a range of diseases sometimes associated with fetal losses or kidney failure in childhood and later in life. Read More

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Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Kidney Int 2019 05 8;95(5):1138-1152. Epub 2019 Mar 8.

Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, UK; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

Mutations in leucine-rich-repeats and immunoglobulin-like-domains 2 (LRIG2) or in heparanase 2 (HPSE2) cause urofacial syndrome, a devastating autosomal recessive disease of functional bladder outlet obstruction. It has been speculated that urofacial syndrome has a neural basis, but it is unknown whether defects in urinary bladder innervation are present. We hypothesized that urofacial syndrome features a peripheral neuropathy of the bladder. Read More

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Recurrent UTI - Make the Child Smile!

Indian Pediatr 2018 02;55(2):169

AMRI Hospital, Kolkata, India.

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February 2018

Look Beyond a Strange Smile: A Clue to Renal Disease.

J Pediatr 2017 12 28;191:276-276.e1. Epub 2017 Sep 28.

Paediatric Nephrology Unit Department of Pediatrics Hospital of the University of Santiago of Compostela Galicia, Spain.

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December 2017

A Tribute to Bernardo Ochoa, MD.

Front Pediatr 2017 27;5:93. Epub 2017 Apr 27.

Pediatric Surgery and Urology, Auf der Bult Kinder- und Jugendkrankenhaus, Hannover, Germany.

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Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

BMC Med Genet 2016 Nov 17;17(1):84. Epub 2016 Nov 17.

Division of Translational Medicine, Research Branch, Sidra Medical and Research Center, Doha, Qatar.

Background: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining both disorders in a specific phenotype.

Case Presentation: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux. Read More

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November 2016

From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.

Nephrol Dial Transplant 2016 04 27;31(4):534-40. Epub 2015 Aug 27.

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK Royal Manchester Children's Hospital, Manchester, UK.

We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary bladder emptying and vesicoureteric reflux, with a high risk of recurrent urosepsis and end-stage renal disease. Read More

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The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications.

Einstein (Sao Paulo) 2015 Apr-Jun;13(2):279-82. Epub 2015 May 1.

Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Ochoa syndrome is rare and its major clinical problems frequently unrecognized. We describe facial characteristics of six patients to help health professional recognize the inverted smile that these patients present and refer them to proper treatment. Patients' medical records were reviewed and patients' urological status clinically reassessed. Read More

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October 2015

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

Nephron 2015 28;130(1):54-8. Epub 2015 Apr 28.

Department of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Background: Urofacial syndrome (UFS) is characterised by congenital bladder dysfunction accompanied by a characteristic abnormal grimace upon smiling and crying. In recent years, biallelic mutations of HPSE2 and LRIG2 have been reported in UFS patients. Non-neurogenic neurogenic bladder (NNNB) has a bladder identical to UFS without typical facial features. Read More

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February 2016

A mouse model of urofacial syndrome with dysfunctional urination.

Hum Mol Genet 2015 Apr 15;24(7):1991-9. Epub 2014 Dec 15.

Departments of Urology and Pathology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA, Department of Surgery, Harvard Medical School, Boston, MA, USA,

Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional urination including urinary incontinence (UI). Biallelic mutations of HPSE2 are discovered from UFS patients, suggesting that HPSE2 is a candidate disease gene. Here, we show that deletion of Hpse2 is sufficient to cause the UFS-like phenotype in mice. Read More

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Urinary tract effects of HPSE2 mutations.

J Am Soc Nephrol 2015 Apr 21;26(4):797-804. Epub 2014 Aug 21.

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. Read More

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Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

Int J Clin Exp Pathol 2014 15;7(5):1842-8. Epub 2014 Apr 15.

The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.

The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and hydronephrosis without any underlying neurological lesion and previous urinary obstruction. Read More

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February 2015

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Hum Mol Genet 2014 Aug 1;23(16):4302-14. Epub 2014 Apr 1.

Centre for Genomic Medicine and Centre for Paediatrics and Child Health, Institute of Human Development, Faculty of Medical and Human Sciences,

Urofacial syndrome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete bladder emptying during micturition. This is associated with a dyssynergia in which the urethral walls contract at the same time as the detrusor smooth muscle in the body of the bladder. UFS is also characterized by an abnormal facial expression upon smiling, and bilateral weakness in the distribution of the facial nerve has been reported. Read More

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Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.

Eur J Pediatr 2014 May 19;173(5):661-5. Epub 2013 Nov 19.

Department of Urology, University of Ankara, Ankara, Turkey,

The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe urinary tract dysfunction is typical in these patients. Read More

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Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.

Pediatr Nephrol 2014 Apr 9;29(4):513-8. Epub 2013 Jul 9.

Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Science Centre, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace upon smiling, laughing and crying. It can present as fetal megacystis. Postnatal features include urinary incontinence and incomplete bladder emptying due to simultaneous detrusor muscle and bladder outlet contractions. Read More

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Scintigraphy in Ochoa syndrome.

Clin Nucl Med 2013 Jul;38(7):564-5

Department of Nuclear Medicine, Infanta Cristina Hospital, Badajoz, Spain.

The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. Read More

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Genetics of human congenital urinary bladder disease.

Pediatr Nephrol 2014 Mar 13;29(3):353-60. Epub 2013 Apr 13.

Centre for Paediatrics Child Health, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

Lower urinary tract and/or kidney malformations are collectively the most common cause of end-stage renal disease in children, and they are also likely to account for a major subset of young adults requiring renal replacement therapy. Advances have been made regarding the discovery of the genetic causes of human kidney malformations. Indeed, testing for mutations of key nephrogenesis genes is now feasible for patients seen in nephrology clinics. Read More

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LRIG2 mutations cause urofacial syndrome.

Am J Hum Genet 2013 Feb 11;92(2):259-64. Epub 2013 Jan 11.

Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. Read More

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February 2013

Urofacial syndrome.

Saudi J Kidney Dis Transpl 2012 Mar;23(2):346-8

Department of Pediatrics, Faculty of Medicine, Jordan University Hospital, Amman, Jordan.

The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Read More

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Editorial comment.

Authors:
Alex Gomelsky

Urology 2011 Oct;78(4):913; author reply 913-4

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October 2011

Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?

Urology 2011 Oct 13;78(4):911-3. Epub 2011 Apr 13.

Department of Urology, General Hospital of Thebes, Thebes, Greece.

The urofacial syndrome (Ochoa syndrome) is considered to represent a subgroup of the non-neurogenic bladder dysfunction, characterized by non-neuropathic bladder-sphincter dysfunction, along with a characteristic inversion of the facial expression with laughing. Recent research suggests that it is probably a genetic inherited disease transmitted in an autosomal recessive fashion and might represent a distinct entity. We report a case of this syndrome in a 14-year-old boy who presented with left pyelonephritis, hydronephrosis, and bladder dilation. Read More

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October 2011