Urofacial syndrome

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 dysmorphic BLADDERS and dilatation of the URETER and RENAL PELVIS. They are at high risk of VESICO-URETERAL REFLUX and may also experience CONSTIPATION or ENCOPRESIS. In addition, affected individuals have a characteristic facial grimace when trying to smile. Mutations in the HPSE2 gene have been identified. OMIM: 236730

Also Known As:

Facial Palsy, Partial, With Urinary Abnormalities; Hydronephrosis with peculiar facial expression; Hydronephrosis-Inverted Smile; Inverted Smile-Neurogenic Bladder; Inverted smile and occult neuropathic bladder; Ochoa syndrome; Partial facial palsy with urinary abnormalities; Urofacial Ochoa's syndrome

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Urofacial syndrome
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Peripheral Nervous System Diseases (PNS Diseases)
4.	Hydronephrosis
5.	Urinary Bladder Neck Obstruction (Bladder Neck Obstruction)

Experts

1.	Woolf, Adrian S: 5 articles (01/2020 - 03/2014)
2.	Roberts, Neil A: 4 articles (01/2020 - 04/2014)
3.	Newman, William G: 4 articles (01/2019 - 03/2014)
4.	Stuart, Helen M: 4 articles (01/2019 - 03/2014)
5.	Hilton, Emma N: 3 articles (01/2019 - 04/2014)
6.	McKenzie, Edward A: 2 articles (08/2014 - 04/2014)
7.	Arvatz, Gil: 1 article (01/2020)
8.	Feld, Sari: 1 article (01/2020)
9.	Gross-Cohen, Miriam: 1 article (01/2020)
10.	Ilan, Neta: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Urofacial syndrome:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "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. " 04/01/2014 - "The collective evidence is consistent with the hypothesis that urofacial syndrome genes code for proteins which work in a common pathway to facilitate neural growth into, and/or function within, the bladder. " 03/01/2014 - "Second, the urofacial syndrome, where mutations of LRIG2 and HPSE2, encoding proteins localised in nerves invading the fetal bladder, have been defined. "
2.	heparanaseIBA 01/01/2020 - "Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy." 08/15/2014 - "Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus." 01/01/2019 - "These observations provide evidence that a peripheral neuropathy is central to the pathobiology of functional bladder outlet obstruction in urofacial syndrome, and emphasize the importance of LRIG2 and heparanase 2 for nerve patterning in the urinary tract." 01/01/2019 - "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. "
3.	Oxaloacetic Acid (Oxalacetic Acid)IBA 06/11/1999 - "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."
4.	Glutamic Acid (Glutamate)FDA Link 06/11/1999 - "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."
5.	MagnesiumIBA 03/01/2011 - "CNNM1 acts as a cytosolic copper chaperone and has been associated with urofacial syndrome, whereas CNNM2 and CNNM4 have been identified as magnesium transporters. "
6.	Ligases (Synthetase)IBA 11/17/2016 - "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. "
7.	Leucine (L-Leucine)FDA Link 01/01/2019 - "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. "
8.	CopperIBA 03/01/2011 - "CNNM1 acts as a cytosolic copper chaperone and has been associated with urofacial syndrome, whereas CNNM2 and CNNM4 have been identified as magnesium transporters. "
9.	Botulinum Toxins (Botulinum Toxin)IBA 01/01/2023 - "Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome."
10.	Transaminases (Aminotransferases)IBA 06/11/1999 - "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."