Urofacial Syndrome 1 (UFS1)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Urofacial Syndrome 1

MalaCards integrated aliases for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 57 72 29 13 6
Urofacial Syndrome 57 12 25 20 43 58 72 36 44 15
Ochoa Syndrome 57 12 73 25 20 43 58 72 29
Hydronephrosis with Peculiar Facial Expression 57 12 20 43 72
Inverted Smile and Occult Neuropathic Bladder 57 20 43 72
Ufs 57 20 43 72
Partial Facial Palsy with Urinary Abnormalities 20 43 58
Urofacial Ochoa's Syndrome 20 43
Ufs1 57 72
Partial Facial Palsy Partial with Urinary Abnormalities 72
Facial Palsy, Partial, with Urinary Abnormalities 57
Inverted Smile-Neurogenic Bladder Syndrome 58
Hydronephrosis-Inverted Smile Syndrome 58
Inverted Smile-Neurogenic Bladder 43
Hydronephrosis-Inverted Smile 43
Urofacial Syndrome, Type 1 39
Urofacial Syndrome; Ufs 57
Urologic Diseases 70


Orphanet epidemiological data:

ochoa syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;


57 (Updated 20-May-2021)
autosomal recessive


urofacial syndrome 1:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0050816
OMIM® 57 236730
OMIM Phenotypic Series 57 PS236730
KEGG 36 H00753
MESH via Orphanet 45 C536480
ICD10 via Orphanet 33 N31.8
UMLS via Orphanet 71 C0403555
Orphanet 58 ORPHA2704
MedGen 41 C0403555
UMLS 70 C0042075

Summaries for Urofacial Syndrome 1

MedlinePlus Genetics : 43 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure.Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention.Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.

MalaCards based summary : Urofacial Syndrome 1, also known as urofacial syndrome, is related to lagophthalmos and neurogenic bladder, and has symptoms including dysuria, polyuria and urgency of micturition. An important gene associated with Urofacial Syndrome 1 is HPSE2 (Heparanase 2 (Inactive)), and among its related pathways/superpathways are Glycosaminoglycan degradation and Metabolic pathways. The drugs Levoleucovorin and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and smooth muscle, and related phenotypes are recurrent urinary tract infections and constipation

Disease Ontology : 12 A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.

GARD : 20 Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination. People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression. Urinary tract problems may include the inability to control urination (incontinence), inability to completely empty the bladder, and the buildup of urine in the kidneys ( hydronephrosis ). These problems often start in early childhood or adolescence and may lead to eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus. Ochoa syndrome can be caused by a non-working HPSE2 or LRIG2 gene and is inherited in an autosomal recessive manner. It can be diagnosed based on the symptoms. Treatment may involve surgery, antibiotics and medications to decrease bladder hyperactivity.

OMIM® : 57 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). (236730) (Updated 20-May-2021)

KEGG : 36 The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients with UFS leads to recurrent urinary tract infection and subsequent renal failure.

UniProtKB/Swiss-Prot : 72 Urofacial syndrome 1: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.

Wikipedia : 73 Urofacial syndrome, or Ochoa syndrome is an autosomal recessive congenital disorder characterized by an... more...

GeneReviews: NBK154138

Related Diseases for Urofacial Syndrome 1

Diseases in the Urofacial Syndrome 1 family:

Urofacial Syndrome 2

Diseases related to Urofacial Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 lagophthalmos 30.5 LRIG2 HPSE2
2 neurogenic bladder 30.3 LRIG2 HPSE2 EBF3
3 urofacial syndrome 2 11.0
4 vesicoureteral reflux 1 10.2
5 autosomal recessive disease 10.2
6 urinary tract infection 10.2
7 hydronephrosis 10.2
8 urinary tract obstruction 10.2
9 leiomyoma 10.2
10 myofibroma 10.2
11 neuropathy 10.2
12 pyelonephritis 10.1
13 acute cystitis 10.1
14 peripheral nervous system disease 10.1
15 end stage renal disease 10.1
16 hinman syndrome 10.1
17 adenomyosis 10.0
18 jalili syndrome 10.0 CNNM4 CNNM1
19 keratitis, hereditary 9.9
20 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9
21 lig4 syndrome 9.9
22 combined immunodeficiency 9.9
23 microcephaly 9.9
24 hydrocephalus 9.9
25 constipation 9.9
26 keratopathy 9.9
27 acute kidney failure 9.9
28 bladder disease 9.9
29 endophthalmitis 9.9
30 kidney disease 9.9
31 chronic kidney disease 9.9
32 hypertelorism 9.9
33 pick disease of brain 9.9
34 niemann-pick disease, type b 9.9
35 niemann-pick disease 9.9
36 splenomegaly 9.9
37 dermatitis, atopic 9.9
38 amenorrhea 9.9
39 dermatitis 9.9
40 breast pericanalicular fibroadenoma 9.8 CHSY1 CHPF
41 prune belly syndrome 9.8 TSHZ3 LRIG2 HPSE2 CHRM3
42 coffin-siris syndrome 2 9.8 CHSY1 CHPF2 CHPF
43 coffin-siris syndrome 3 9.7 CHSY1 CHPF2 CHPF
44 temtamy preaxial brachydactyly syndrome 9.6 EXTL1 CHSY1 CHPF2 CHPF

Comorbidity relations with Urofacial Syndrome 1 via Phenotypic Disease Network (PDN):

Acute Cystitis Decubitus Ulcer
Deficiency Anemia Heart Disease

Graphical network of the top 20 diseases related to Urofacial Syndrome 1:

Diseases related to Urofacial Syndrome 1

Symptoms & Phenotypes for Urofacial Syndrome 1

Human phenotypes related to Urofacial Syndrome 1:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0000010
2 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
3 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
4 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
5 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
6 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
7 urethral obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0000796
8 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
9 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
10 polydipsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001959
11 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
12 abnormal facial shape 31 HP:0001999
13 urethral valve 31 HP:0010481
14 hydroureter 31 HP:0000072
15 enuresis 31 HP:0000805
16 abnormal facial expression 31 HP:0005346

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary External Genitalia Male:

Genitourinary Ureters:
urethral obstruction
urethral valves

Head And Neck Face:
peculiar facies
crying facial expression when laughing

Genitourinary Kidneys:

Genitourinary Bladder:
urinary tract infection
mild neuropathic bladder

Abdomen Gastrointestinal:
constipation, moderate to severe

Clinical features from OMIM®:

236730 (Updated 20-May-2021)

UMLS symptoms related to Urofacial Syndrome 1:

dysuria; polyuria; urgency of micturition; other and unspecified genitourinary symptoms; renal colic; pain in urethra; uti symptoms; urethral burning on micturition; loin pain; ureteral pain; flank tenderness; difficulty passing urine; urinary tenesmus; burning urination; bladder discomfort; renal pain; urologic problem

Drugs & Therapeutics for Urofacial Syndrome 1

Drugs for Urofacial Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Uric acid Investigational Phase 4 69-93-2 1175
6 Protective Agents Phase 4
7 Micronutrients Phase 4
8 Trace Elements Phase 4
9 Nutrients Phase 4
10 Vitamin B Complex Phase 4
11 Antioxidants Phase 4
12 Folate Phase 4
13 Vitamins Phase 4
14 Vitamin B9 Phase 4
15 Hematinics Phase 4
16 Neuromuscular Nondepolarizing Agents Phase 4
17 Neuromuscular Blocking Agents Phase 4
18 Anticonvulsants Phase 4
19 Bromides Phase 4
20 Anesthetics Phase 4
21 Narcotics Phase 4
22 Analgesics, Opioid Phase 4
23 Anesthetics, Local Phase 4
Mirabegron Approved Phase 3 223673-61-8 9865528
Tamsulosin Approved, Investigational Phase 3 106133-20-4 129211
Propiverine Approved, Investigational Phase 3 60569-19-9 4942
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
Ofloxacin Approved Phase 3 82419-36-1 4583
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
Lomefloxacin Approved, Investigational Phase 3 98079-51-7 3948
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
34 Adrenergic Agonists Phase 3
35 Adrenergic beta-3 Receptor Agonists Phase 3
36 Cholinergic Antagonists Phase 3
37 Solifenacin succinate Phase 3 242478-38-2
38 Cholinergic Agents Phase 3
39 Adrenergic beta-Agonists Phase 3
40 Muscarinic Antagonists Phase 3
41 Adrenergic Agents Phase 3
42 Neurotransmitter Agents Phase 3
43 Analgesics Phase 3
44 Anti-Bacterial Agents Phase 3
45 Anti-Infective Agents Phase 3
46 Hormones Phase 3
47 Calcium, Dietary Phase 3
48 Parasympatholytics Phase 3
49 Cytochrome P-450 Enzyme Inhibitors Phase 3
50 Psychotropic Drugs Phase 3

Interventional clinical trials:

(show top 50) (show all 106)
# Name Status NCT ID Phase Drugs
1 Periprocedural Administration of Folic Acid for Prevention of Contrast Induced Nephropathy in Patients Undergoing Coronary CTA/Angiography/Angioplasty Unknown status NCT02444013 Phase 4 Folic acid;Placebo
2 Does Depth of Neuromuscular Blockade (NMB) Affect Surgical Conditions and Postoperative Pain in Obese Patients Undergoing Robotic Surgery Recruiting NCT03591289 Phase 4 NMB with rocuronium bromide
3 Efficacy of the Liposomal Bupivacaine for Postoperative Pain Control in Urologic Procedures Recruiting NCT02805504 Phase 4 Exparel;Marcaine
4 A Randomized Trial Evaluating Use of Long-Acting Liposomal Bupivacaine (Exparel®) in Reducing Narcotic Pain Requirements in Pediatric Patients Undergoing Minor Urologic Procedures Not yet recruiting NCT04826484 Phase 4 Exparel 133 MG Per 10 ML Injection;Bupivacaine Hydrochloride
5 A Double-Blind, Randomized, Parallel Group, Multi-Centre Study to Evaluate the Efficacy and Safety of Mirabegron Compared to Solifenacin in Subjects With Overactive Bladder (OAB) Treated With Antimuscarinics and Dissatisfied Due to Lack of Efficacy Completed NCT01638000 Phase 3 Mirabegron;Solifenacin succinate
6 Efficacy and Tolerability of Propiverine Hydrochloride Extended Release (ER) Compared to Immediate Release (IR) in Patients With Neurogenic Detrusor Overactivity. A Randomized, Double Blind, Parallel Group, Multicenter Clinical Trial Completed NCT01530620 Phase 3 Propiverine hydrochloride ER (extended release);Propiverine hydrochloride IR (immediate release)
7 Tamsulosin Phase III Clinical Trial -Double-Blind, Placebo Controlled Study in Male Patients With Lower Urinary Tract Syndrome Completed NCT00239317 Phase 3 Tamusulosin
8 Tamsulosin Phase III Clinical Trial -Double-Blind, Placebo Controlled Study in Female Patients With Lower Urinary Tract Syndrome Completed NCT00239265 Phase 3 Tamuslosin
9 A Randomized, Double-Blind, Parallel-Group, Placebo- and Active-Controlled, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Combinations of Solifenacin Succinate and Mirabegron Compared to Solifenacin Succinate and Mirabegron Monotherapy in the Treatment of Overactive Bladder Completed NCT01972841 Phase 3 Solifenacin succinate;Mirabegron;Placebo to match solifenacin succinate;Placebo to match mirabegron
10 A Randomized, Double-Blind, Parallel-Group, Active-Controlled, Multi-center Study to Evaluate the Long-Term Safety and Efficacy of Combination of Solifenacin Succinate With Mirabegron Compared to Solifenacin Succinate and Mirabegron Monotherapy in Subjects With Overactive Bladder Completed NCT02045862 Phase 3 Solifenacin succinate;Mirabegron;Placebo to match solifenacin;Placebo to match mirabegron
11 A Multicenter, Randomized Study To Compare The Safety And Efficacy Of Oral Levofloxacin With That Of Lomefloxacin HCl In The Treatment Of Complicated Urinary Tract Infections In Adults Completed NCT00258102 Phase 3 Levofloxacin
12 A Multicenter, Double-Blind, Randomized Study To Compare The Safety And Efficacy Of Oral Levofloxacin With That Of Ciprofloxacin HCl In The Treatment Of Complicated Urinary Tract Infections In Adults Completed NCT00258089 Phase 3 Levofloxacin
13 A Randomized, Double-Blind, Multi-Centre Study to Evaluate the Efficacy and Safety of Adding Mirabegron to Solifenacin in Incontinent OAB Subjects Who Have Received Solifenacin for 4 Weeks and Warrant Additional Relief for Their OAB Symptoms Completed NCT01908829 Phase 3 mirabegron 25 mg;mirabegron 50 mg;solifenacin 5 mg;solifenacin 10 mg;mirabegron 25 mg matching placebo;mirabegron 50 mg matching placebo;solifenacin 5 mg matching placebo;solifenacin 10 mg matching placebo
14 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Completed NCT03927781 Phase 3 Pregabalin 300mg
15 An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Enrolling by invitation NCT04042402 Phase 3 DCR-PHXC
16 A Randomized Controlled Study Comparing Adjuvant Hyperthermia Treatment in Conjunction With Mitomycin C Versus BCG Immunotherapy (BCG) Adjuvant Treatment in Patients With Superficial Transitional Cell Carcinoma of the Bladder (STCCB) Terminated NCT00384891 Phase 3 Bacillus Calmette-Guérin
17 A Multi-Centre, Randomised, Open-Label Active-Controlled Study Comparing Safety and Efficacy of Synergo Radiofrequency (RF)-Induced Hyperthermia-Chemotherapy With Mitomycin C (RITE) Versus Bacillus Calmette-Guérin (BCG) as First-Line Treatment of Non-Muscle Invasive Papillary Bladder Cancer (NMIBC) Withdrawn NCT02254915 Phase 3 Bacillus Calmette-Guérin
18 A Randomized, Double-Blind, Factorial, Parallel-Group, Active and Placebo-Controlled, Multicenter Dose-Ranging Study to Evaluate the Efficacy, Safety and Tolerability of Six Dose Combinations of Solifenacin Succinate and Mirabegron Compared to Mirabegron and Solifenacin Succinate Monotherapies in the Treatment of Overactive Bladder. Completed NCT01340027 Phase 2 Mirabegron;Solifenacin succinate;Placebo
19 A Phase 2, Randomized, Double-blind, Placebo-controlled, Parallel Group, Adaptive, Combined Proof of Concept and Dose-Finding Study to Investigate Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of ASP3652 in the Treatment of Female Patients With Bladder Pain Syndrome / Interstitial Cystitis Completed NCT01613586 Phase 2 ASP3652;Placebo
20 Muscle Cell Mediated Therapy for Stress Urinary Incontinence in Males Following Prostate Surgery: An Investigation of Cook MyoSite Autologous Muscle Derived Cells Completed NCT02291432 Phase 1, Phase 2
21 Evaluation of the Safety of Pre-TURBT Intravesical Instillation of Escalating Doses of TC-3 Gel Mixed With Mitomycin C (MMC) in Non-muscle Invasive Bladder Cancer (NMIBC) Patients Completed NCT02307487 Phase 2 120 mg MMC in 90ml gel;140 mg MMC in 90ml gel;160 mg MMC in 90ml gel;120 mg MMC in 60ml gel;140 mg MMC in 60ml gel;160 mg MMC in 60ml gel
22 Efficacy of the Oncoxin-Viusid® Nutritional Supplement on the Quality of Life of Patients With Advanced or Metastatic Ovarian Epithelial Cancer. Clinical Trial Phase II. Recruiting NCT03562897 Phase 2
23 A Phase 2a Multiple Ascending, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of GFB-887, a TRPC5 Channel Inhibitor, in Patients With Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, and Treatment-Resistant Minimal Change Disease Recruiting NCT04387448 Phase 2 GFB-887;Placebo
24 A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Active, not recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
25 A Phase 1/2a Pilot Study of Intravesical TSD-001 for Treatment of Low-Grade, Stage Ta, Non Muscle Invasive Bladder Cancer Active, not recruiting NCT03081858 Phase 1, Phase 2 TSD-001
26 Intravesical Antifibrinolytic for Patients With Hematuria and Clot Retention Not yet recruiting NCT04555343 Phase 1, Phase 2 Tranexamic acid
27 Albumin Normalization to Prevent Hypotension and Enhance Recovery From Severe Acute Kidney Injury Treated With Renal Replacement Therapy: A Proof-of-Concept Study Not yet recruiting NCT04705896 Phase 2
28 A Randomized, Double-Blind, Placebo-Controlled Study to Explore the Efficacy, Safety, and Tolerability of JNJ-42160443 in Subjects With Interstitial Cystitis/ Painful Bladder Syndrome Terminated NCT01060254 Phase 2 Placebo;JNJ-42160443
29 A Dose Escalation, Expansion Study of Vofatamab (B-701) Alone, Plus Docetaxel, or Versus Docetaxel in Subjects With Locally Advanced or Metastatic Urothelial Cell Carcinoma Who Have Relapsed After, or Are Refractory to Standard Therapy Terminated NCT02401542 Phase 1, Phase 2 Vofatamab;Docetaxel;Placebo
30 A Multi-Center, Open-Label Phase 1b/2 Study of a Novel FGFR3 Inhibitor (B-701) Combined With Pembrolizumab in Subjects With Locally Advanced or Metastatic Urothelial Carcinoma Who Have Progressed Following Platinum-based Chemotherapy Terminated NCT03123055 Phase 1, Phase 2 B-701;Pembrolizumab
31 A First-In-Human, Phase 1, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of GFB-887, a TRPC5 Channel Inhibitor, in Healthy Subjects Completed NCT03970122 Phase 1 GFB-887;Placebo
32 A Single-Dose, Randomised, Open-Label, Two-Period Crossover Study to Determine the Bioequivalence of the Second Generation Dutasteride and Tamsulosin HCl Combination Capsule in the Fasted State in Healthy Adult Male Subjects Completed NCT02052713 Phase 1 Commercially available combination of dutasteride 0.5 mg and tamsulosin HCL 0.4 mg;Second generation dutasteride 0.5 mg and tamsulosin HCL 0.4 mg combination capsule
33 A Single-Dose, Randomised, Open-Label, Two-Period Crossover Study to Determine the Bioequivalence of the Second Generation Dutasteride and Tamsulosin HCl Combination Capsule in the Fed State in Healthy Adult Male Subjects Completed NCT02058576 Phase 1 Commercially available combination of dutasteride 0.5 mg and tamsulosin HCL 0.4 mg;Second generation dutasteride 0.5 mg and tamsulosin HCL 0.4 mg combination capsule
34 Clinical Study to Investigate the Safety and Pharmacokinetics of Udenafil Tablet in Renal Impaired Male Patients Completed NCT01231997 Phase 1 Udenafil
35 Clinical Study to Investigate the Safety and Pharmacokinetics of Udenafil Tablet in Renal Impaired Male Patients Completed NCT01232010 Phase 1 Mirodenafil
36 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1 mycophenolate mofetil
37 Perioperative Testosterone Replacement Therapy Improves Outcomes: A Pilot Safety and Feasibility Study Recruiting NCT04731376 Phase 1 Testosterone Cypionate
38 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
39 A Phase 1 Pilot Safety and Feasibility Study of Autologous Engineered Urethral Not yet recruiting NCT03258658 Phase 1
40 Safety and Clinical Outcomes Study: Amniotic and Umbilical Cord Tissue Administration for Orthopedic, Neurologic, Urologic, Autoimmune, Renal, Cardiac and Pulmonary Conditions Not yet recruiting NCT03899298 Phase 1
41 A Phase l/ll, Open Label, Dose-escalation Study of Varlilumab (CDX-1127) in Combination With Atezolizumab (MPDL3280A, Anti-PD-L1) in Patients With Advanced Cancer Terminated NCT02543645 Phase 1 Combination of Varlilumab and Atezolizumab
42 A Phase l/ll Study of Varlilumab in Combination With Sunitinib in Patients With Metastatic Clear Cell Renal Cell Carcinoma Terminated NCT02386111 Phase 1 Combination of varlilumab and sunitinib
43 Pharmacology and Physiology of the Lower Urinary Tract Unknown status NCT00662064
44 The Alternating Bidirectional Versus The Standard Approach During Shock Wave Lithotripsy For Renal And Upper Lumbar Ureteric Stones. A Randomized Clinical Trial Unknown status NCT03243682
45 A Randomized Controlled Trial of Renal Hypothermia During Partial Nephrectomy Unknown status NCT01529658
46 Remote Ischemic Conditioning (RIC) to Decrease Post-Operative Complications After Major Abdominal Surgery - A Phase IIa Trial Unknown status NCT03234543
47 Bladder Morphology Using 2 Different Catheter Designs Foley Catheter vs. Cystosure Urinary Access System Unknown status NCT03108079
48 Patient-driven Compression in Urography Completed NCT02622269
49 Shockwave Lithotripsy (SWL) Versus Oral Dissolution Therapy (ODT) Versus Combined SWL And ODT For Radiolucent Renal Stone Randomised Controlled Trial Completed NCT03388060
50 ED50 of Cis-atracurium for Laryngeal Mask Incubation in General Anesthesia During Urology Surgery Completed NCT03668262 Cis-atracurium

Search NIH Clinical Center for Urofacial Syndrome 1

Cochrane evidence based reviews: urofacial syndrome

Genetic Tests for Urofacial Syndrome 1

Genetic tests related to Urofacial Syndrome 1:

# Genetic test Affiliating Genes
1 Urofacial Syndrome 1 29 HPSE2
2 Ochoa Syndrome 29

Anatomical Context for Urofacial Syndrome 1

MalaCards organs/tissues related to Urofacial Syndrome 1:

Kidney, Prostate, Smooth Muscle, Brain, Breast, Skin

Publications for Urofacial Syndrome 1

Articles related to Urofacial Syndrome 1:

(show top 50) (show all 71)
# Title Authors PMID Year
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. 6 61 25 57
20560209 2010
Mutations in HPSE2 cause urofacial syndrome. 57 6 25 61
20560210 2010
Ochoa syndrome: a spectrum of urofacial syndrome. 61 25 6 57
19669792 2010
Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? 57 25 6 61
19839856 2009
Three new European cases of urofacial (Ochoa) syndrome. 6 25 57
11446407 2001
LRIG2 mutations cause urofacial syndrome. 6 61 25
23313374 2013
First HPSE2 missense mutation in urofacial syndrome. 6 25 61
21332471 2012
Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. 25 57 61
11074487 2000
Urofacial (ochoa) syndrome. 57 25 61
3631137 1987
Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome". 25 57
474623 1979
High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. 57 61
12707951 2003
Urofacial syndrome. 61 57
2624278 1989
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. 25 61
27855655 2016
Urinary tract effects of HPSE2 mutations. 25 61
25145936 2015
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. 61 25
24691552 2014
Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign. 61 25
24248520 2014
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. 25 61
23832138 2014
Genetics of human congenital urinary bladder disease. 25 61
23584850 2014
Clinical and genetic characteristics for the Urofacial Syndrome (UFS). 20 61
24966895 2014
Urofacial syndrome. 25 61
22382233 2012
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. 61 25
21450525 2011
Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes? 61 25
21369396 2010
Ochoa or Urofacial syndrome. 61 25
20519791 2010
Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. 61 25
16255797 2005
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. 57
10360399 1999
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. 57
9199567 1997
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. 25 61
1897575 1991
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. 25
29453416 2018
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 25
28602422 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 25
28292896 2017
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. 25
27151922 2017
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. 25
25407000 2015
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 25
22302747 2012
More than meets the smile: facial muscle expression in children with Ochoa syndrome. 25
22390114 2011
Heparanase enhances nerve-growth-factor-induced PC12 cell neuritogenesis via the p38 MAPK pathway. 25
21831044 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. 25
22077972 2011
Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity. 25
20576607 2010
Severe voiding dysfunction: ask the child to smile. 25
20588289 2010
Heparanase: busy at the cell surface. 25
19733083 2009
Expression pattern of LRR and Ig domain-containing protein (LRRIG protein) in the early mouse embryo. 25
18848646 2009
LRIG inhibitors of growth factor signalling - double-edged swords in human cancer? 25
17239582 2007
Diagnosis and management of dysfunctional voiding. 25
16601493 2006
The urofacial (Ochoa) syndrome--first case in the central European population. 25
16752812 2006
The LRIG gene family has three vertebrate paralogs widely expressed in human and mouse tissues and a homolog in Ascidiacea. 25
15203213 2004
Characterization and tissue-specific expression of human LRIG2. 25
15145052 2004
Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. 25
14648341 2004
Ochoa syndrome: new features. 25
17657091 2003
Cloning, characterization, and expression of human LIG1. 25
11414704 2001
Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member. 25
11027606 2000
The urofacial (Ochoa) syndrome revisited. 25
1640526 1992

Variations for Urofacial Syndrome 1

ClinVar genetic disease variations for Urofacial Syndrome 1:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPSE2 HPSE2, EX8-9DEL Deletion Pathogenic 86 GRCh37:
2 HPSE2 HPSE2, EX3DEL Deletion Pathogenic 87 GRCh37:
3 HPSE2 NM_021828.4(HPSE2):c.1414C>T (p.Arg472Ter) SNV Pathogenic 88 rs267606864 GRCh37: 10:100249860-100249860
GRCh38: 10:98490103-98490103
4 HPSE2 NM_001166245.1(HPSE2):c.448+87957C>T SNV Pathogenic 89 rs267606865 GRCh37: 10:100904148-100904148
GRCh38: 10:99144391-99144391
5 HPSE2 NM_001166246.1(HPSE2):c.*51A>T SNV Pathogenic 60719 rs397515452 GRCh37: 10:100219482-100219482
GRCh38: 10:98459725-98459725
6 HPSE2 NM_001166244.1(HPSE2):c.235_236CT[3] (p.Leu81fs) Microsatellite Pathogenic 85 rs1469962264 GRCh37: 10:100995318-100995319
GRCh38: 10:99235561-99235562
7 HPSE2 NM_021828.4(HPSE2):c.57dup (p.Ala20fs) Duplication Pathogenic 90 rs778121647 GRCh37: 10:100995502-100995503
GRCh38: 10:99235745-99235746
8 HPSE2 NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) SNV Pathogenic 83 rs267606866 GRCh37: 10:100242490-100242490
GRCh38: 10:98482733-98482733
9 HPSE2 NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) Deletion Pathogenic 84 rs397515338 GRCh37: 10:100249808-100249809
GRCh38: 10:98490051-98490052
10 LRIG2 NM_014813.3(LRIG2):c.1230del (p.Glu410fs) Deletion Pathogenic 40206 rs587776945 GRCh37: 1:113642889-113642889
GRCh38: 1:113100267-113100267
11 LRIG2 NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) SNV Pathogenic 40207 rs587776946 GRCh37: 1:113657093-113657093
GRCh38: 1:113114471-113114471
12 LRIG2 NM_014813.3(LRIG2):c.2088del (p.Ser697fs) Deletion Pathogenic 40208 rs587776947 GRCh37: 1:113657054-113657054
GRCh38: 1:113114432-113114432
13 LRIG2 NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs) Insertion Pathogenic 40209 GRCh37: 1:113655282-113655283
GRCh38: 1:113112660-113112661
14 LRIG2 NM_014813.3(LRIG2):c.2746C>T (p.Arg916Ter) SNV Pathogenic 997664 GRCh37: 1:113661920-113661920
GRCh38: 1:113119298-113119298
15 LRIG2 NM_014813.3(LRIG2):c.458C>A (p.Ser153Ter) SNV Pathogenic 1032641 GRCh37: 1:113636129-113636129
GRCh38: 1:113093507-113093507
16 LRIG2 NC_000001.11:g.113112477_113112478del Microsatellite Likely pathogenic 666570 rs1570764426 GRCh37: 1:113655099-113655100
GRCh38: 1:113112477-113112478
17 LRIG2 NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) SNV Uncertain significance 548631 rs554758747 GRCh37: 1:113633956-113633956
GRCh38: 1:113091334-113091334
18 LRIG2 NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) SNV Uncertain significance 548630 rs201013312 GRCh37: 1:113653082-113653082
GRCh38: 1:113110460-113110460
19 HPSE2 NM_021828.5(HPSE2):c.55C>T (p.Pro19Ser) SNV Uncertain significance 1030769 GRCh37: 10:100995505-100995505
GRCh38: 10:99235748-99235748
20 HPSE2 NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe) SNV Benign 802626 rs10883100 GRCh37: 10:100219374-100219374
GRCh38: 10:98459617-98459617

Expression for Urofacial Syndrome 1

Search GEO for disease gene expression data for Urofacial Syndrome 1.

Pathways for Urofacial Syndrome 1

Pathways related to Urofacial Syndrome 1 according to KEGG:

# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Metabolic pathways hsa01100

Pathways related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 10.81 HPSE CHST15
Show member pathways
10.46 HPSE2 HPSE

GO Terms for Urofacial Syndrome 1

Cellular components related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 SLC41A1 LRIG3 LRIG2 LRIG1 EXTL1 CNNM4
2 Golgi membrane GO:0000139 9.77 CHSY1 CHST15 CHPF2 CHPF B3GNT2
3 basolateral plasma membrane GO:0016323 9.56 SLC41A1 CNNM4 CNNM2 CHRM3
4 membrane GO:0016020 9.55 SLC41A1 LRIG3 LRIG2 LRIG1 LOXL4 HPSE2
5 Golgi cisterna membrane GO:0032580 9.5 CHSY1 CHPF2 CHPF
6 extracellular matrix GO:0031012 9.35 LRIG3 LRIG2 LRIG1 HPSE2 HPSE

Biological processes related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan catabolic process GO:0006027 9.43 HPSE2 HPSE
2 transport GO:0006810 9.43 CNNM4 CNNM2 CNNM1
3 innervation GO:0060384 9.4 LRIG2 LRIG1
4 magnesium ion homeostasis GO:0010960 9.37 CNNM4 CNNM2
5 magnesium ion transmembrane transport GO:1903830 9.33 SLC41A1 CNNM4 CNNM2
6 otolith morphogenesis GO:0032474 9.32 LRIG3 LRIG1
7 magnesium ion transport GO:0015693 9.13 SLC41A1 CNNM4 CNNM2
8 chondroitin sulfate biosynthetic process GO:0030206 8.92 CHSY1 CHST15 CHPF2 CHPF

Molecular functions related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.71 EXTL1 CHSY1 CHPF B3GNT2
2 transmembrane transporter activity GO:0022857 9.67 SLC41A1 CNNM4 CNNM2 CNNM1
3 acetylglucosaminyltransferase activity GO:0008375 9.43 EXTL1 B3GNT2
4 magnesium ion transmembrane transporter activity GO:0015095 9.43 SLC41A1 CNNM4 CNNM2
5 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.33 CHSY1 CHPF2 CHPF
6 heparanase activity GO:0030305 9.32 HPSE2 HPSE
7 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.13 CHSY1 CHPF2 CHPF
8 acetylgalactosaminyltransferase activity GO:0008376 8.92 CHSY1 CHPF2 CHPF B3GNT2

Sources for Urofacial Syndrome 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....