UFS1
MCID: URF003
MIFTS: 50

Urofacial Syndrome 1 (UFS1) malady

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

Aliases & Classifications for Urofacial Syndrome 1

Aliases & Descriptions for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 54 66 13
Urofacial Syndrome 12 23 50 24 25 56 66 14
Ochoa Syndrome 12 23 50 25 56 66 29
Hydronephrosis with Peculiar Facial Expression 12 50 25 66
Partial Facial Palsy with Urinary Abnormalities 50 25 56
Inverted Smile and Occult Neuropathic Bladder 50 25 66
Ufs 50 25 66
Urofacial Ochoa's Syndrome 50 25
Urologic Diseases 42 69
Partial Facial Palsy Partial with Urinary Abnormalities 66
Inverted Smile-Neurogenic Bladder Syndrome 56
Hydronephrosis Peculiar Facial Expression 50
Hydronephrosis-Inverted Smile Syndrome 56
Inverted Smile-Neurogenic Bladder 25
Hydronephrosis-Inverted Smile 25
Ufs1 66

Characteristics:

Orphanet epidemiological data:

56
ochoa syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

GeneReviews:

23
urofacial syndrome 1:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance is complete in all series reported to date. however, variable expression from subtle to more striking clinical features is common...

Classifications:



External Ids:

OMIM 54 236730
Disease Ontology 12 DOID:0050816
Orphanet 56 ORPHA2704
MESH via Orphanet 43 C536480
UMLS via Orphanet 70 C0403555
ICD10 via Orphanet 34 N31.8
MedGen 40 C0403555

Summaries for Urofacial Syndrome 1

NIH Rare Diseases : 50 ochoa syndrome is a condition characterized by unusual facial expressions and urinary problems. affected individuals have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression; this may appear as early as an infant begins to smile. the urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infections, hydronephrosis, and eventual kidney failure. other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus. the syndrome can be caused by mutations in the hpse2 gene and is inherited in a autosomal recessive manner. treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure. last updated: 7/12/2012

MalaCards based summary : Urofacial Syndrome 1, also known as urofacial syndrome, is related to urofacial syndrome 2 and lrig2-related urofacial syndrome, and has symptoms including constipation, polydipsia and hypertension. An important gene associated with Urofacial Syndrome 1 is HPSE2 (Heparanase 2 (Inactive)), and among its related pathways/superpathways is Glycosaminoglycan degradation. The drugs Iron and Candesartan have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are digestive/alimentary and renal/urinary system

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

Genetics Home Reference : 25 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

OMIM : 54 The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of... (236730) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...

GeneReviews: NBK154138

Related Diseases for Urofacial Syndrome 1

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



Diseases related to Urofacial Syndrome 1

Symptoms & Phenotypes for Urofacial Syndrome 1

Symptoms by clinical synopsis from OMIM:

236730

Clinical features from OMIM:

236730

Human phenotypes related to Urofacial Syndrome 1:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 polydipsia 56 32 Occasional (29-5%) HP:0001959
3 hypertension 56 32 Occasional (29-5%) HP:0000822
4 bowel incontinence 56 32 Occasional (29-5%) HP:0002607
5 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
6 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
7 vesicoureteral reflux 56 32 Frequent (79-30%) HP:0000076
8 recurrent urinary tract infections 56 32 Very frequent (99-80%) HP:0000010
9 hydronephrosis 56 32 Frequent (79-30%) HP:0000126
10 urinary incontinence 56 32 Frequent (79-30%) HP:0000020
11 urethral obstruction 56 32 Frequent (79-30%) HP:0000796
12 abnormal facial shape 32 HP:0001999
13 urethral valve 32 HP:0010481
14 hydroureter 32 HP:0000072
15 enuresis 32 HP:0000805
16 abnormal facial expression 32 HP:0005346

UMLS symptoms related to Urofacial Syndrome 1:


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

MGI Mouse Phenotypes related to Urofacial Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 CHRM3 CNNM4 DNM2 HPSE2 TP63
2 renal/urinary system MP:0005367 9.35 CHRM3 CNNM4 DNM2 HPSE2 TP63
3 vision/eye MP:0005391 9.02 CHRM3 CNNM4 DNM2 TP63 ACTA2

Drugs & Therapeutics for Urofacial Syndrome 1

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

(show top 50) (show all 1177)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
2
Candesartan Approved Phase 4,Phase 3,Phase 2,Phase 1 139481-59-7 2541
3
Enalapril Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 75847-73-3 5362032 40466924
4
Enalaprilat Approved Phase 4,Phase 3,Phase 1,Phase 2 76420-72-9 6917719
5
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
6
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 159351-69-6 6442177
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
9
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 104987-11-3 445643 439492
10
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
11
alemtuzumab Approved, Investigational Phase 4,Phase 1,Phase 2 216503-57-0
12
Daclizumab Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 152923-56-3
13
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24280-93-1 446541
15
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 616-91-1 12035
16
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
17
Nitrofurantoin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 67-20-9 5353830
18
Trimethoprim Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 738-70-5 5578
19
Levofloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 100986-85-4 149096
20
Ofloxacin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 82419-36-1 4583
21
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
22
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 137862-53-4 60846
23
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
24
Digoxin Approved Phase 4 20830-75-5 30322 2724385
25
Spironolactone Approved Phase 4,Phase 3,Phase 2,Phase 1 1952-01-7, 52-01-7 5833
26
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
27
Cefoxitin Approved Phase 4 35607-66-0 441199
28
Sulbactam Approved Phase 4,Phase 3,Phase 2 68373-14-8
29
Piperacillin Approved Phase 4,Phase 3,Phase 2 66258-76-2 43672
30
Furosemide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 54-31-9 3440
31
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 58-93-5 3639
32
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
33
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
34
Basiliximab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 152923-56-3, 179045-86-4
35
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
36
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
37
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
38
Simvastatin Approved Phase 4,Phase 3,Phase 1 79902-63-9 54454
39
Nitric Oxide Approved Phase 4,Phase 2,Phase 3,Phase 1 10102-43-9 145068
40
Cilnidipine Approved Phase 4,Phase 2 132203-70-4 5282138
41
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
42
Nifedipine Approved Phase 4,Phase 3,Phase 2,Phase 1 21829-25-4 4485
43
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
44
Propantheline Approved Phase 4,Phase 1 298-50-0 4934
45
Tamsulosin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106133-20-4 129211
46 Moxonidine Approved Phase 4 75438-57-2 4810
47
Zaleplon Approved, Illicit, Investigational Phase 4 151319-34-5 5719
48
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
49
Povidone-iodine Approved Phase 4,Phase 2 25655-41-8
50
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1 50-78-2 2244

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Folic Acid for Prevention of Contrast Induced Nephropathy Unknown status NCT02444013 Phase 4
2 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4
3 Intravenous Iron in Patients With Anemia of Chronic Kidney Disease Unknown status NCT00204256 Phase 4
4 Pulse Wave Velocity, Pulse Wave Morphology and Blocking of the Reninangiotensin System in Patients With Chronic Kidney Disease Unknown status NCT00235287 Phase 4
5 Safe Renal Function In Long Term Heart Transplanted Patients Unknown status NCT00505102 Phase 4
6 Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism Unknown status NCT02311010 Phase 4
7 Reduction or Discontinuation of CNI's With Conversion to Everolimus-Based Immunosuppresion Unknown status NCT00443508 Phase 4
8 A Study Comparing Outcomes of Kidney Transplants in Patients on Steroids Versus Those Who Discontinue Steroids Unknown status NCT00273559 Phase 4
9 Comparison of Alemtuzumab/Tacrolimus Versus Interleukin-2 Receptor (IL-2R) Monoclonal Antibody (MoAb)/Tacrolimus/Mycophenolate in Kidney Transplantation Unknown status NCT00246129 Phase 4
10 Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA) Unknown status NCT00290069 Phase 4
11 Effect of Intravenous Acetadote on Incidence of Contrast Induced Nephropathy Unknown status NCT00939913 Phase 4
12 Preventive Effect of Pitavastatin on Contrast-Induced Nephropathy in Patients With Renal Dysfunction Unknown status NCT01871792 Phase 4
13 Impact of Conversion From Tacrolimus to Sirolimus in African American Renal Transplant Recipients Unknown status NCT00999258 Phase 4
14 Prevention of Contrast-Induced Nephropathy in Diabetic Patients With Undergoing Coronary Angiography Unknown status NCT00950079 Phase 4
15 Gentamicin Bladder Instillation Trial Unknown status NCT01884467 Phase 4
16 Effects of Antibiotic Prophylaxis on Recurrent UTI in Children Unknown status NCT02357758 Phase 4
17 The Efficacy of Solifenacin Succinate as Adjuvant Therapy for Urinary Tract Infection in Females Unknown status NCT02094703 Phase 4
18 Low Dose Estriol With Lactobacilli Treatment for Preventing Recurrent Urinary Tract Infection in Postmenopausal Women Unknown status NCT00900653 Phase 4
19 Evaluation of the Effectiveness of Antibiotic Prophylaxis in Children With a Previous Urinary Tract Infection Unknown status NCT00156546 Phase 4
20 Effect of Valsartan vs Perindopril on HOMA-IR Index in Patients With Chronic Kidney Disease Unknown status NCT02299310 Phase 4
21 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease Unknown status NCT01155128 Phase 4
22 Keto-/Amino Acid Supplemented Low Protein Diet in Patients With Chronic Kidney Disease Unknown status NCT00364884 Phase 4
23 The Canadian Prevention of Renal and Cardiovascular Endpoints Trial Unknown status NCT00231803 Phase 4
24 Opioids in Chronic Kidney Disease Patients Undergoing Hemodialysis Unknown status NCT02452437 Phase 4
25 The Prevention of Contrast Induced Nephropathy by Sarpogrelate in Patients With Chronic Kidney Disease Unknown status NCT01165567 Phase 4
26 Marinobufagenin as a Target for DIGIBIND in Hypertensive Patients With End-stage Renal Disease Unknown status NCT00852787 Phase 4
27 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4
28 Enhancing Dialysis Adequacy: Effects of Intradialytic Exercise Unknown status NCT01481688 Phase 4
29 Pilot Study Evaluating Doxercalciferol Replacement Therapy in Kidney Transplant Recipients Unknown status NCT00889629 Phase 4
30 More Frequent Dialysis (>3 Treatments Per Week) Unknown status NCT00575497 Phase 4
31 Anti-Oxidant Effect on Peritoneal Membrane in Peritoneal Dialysis (PD) Patients Unknown status NCT01111422 Phase 4
32 Effects of Spironolactone in Dialysis Unknown status NCT01128101 Phase 4
33 Study on Cefotaxime and Sulbactam Sodium for Injection (2:1) for Treatment of Respiratory and Urinary Tract Infection Unknown status NCT01426191 Phase 4
34 Piperacillin Sodium and Sulbactam Sodium for Injection (2:1) for Treatment of Respiratory and Urinary Tract Infection Unknown status NCT01897831 Phase 4
35 Effect of Hydration With Sodium Bicarbonate for Long-Term Clinical Outcomes in Patients With Chronic Kidney Disease Undergoing an Emergent Coronary Procedure Unknown status NCT00716001 Phase 4
36 Piperacillin Sodium and Sulbactam Sodium for Injection(2:1) for Treatment of Respiratory and Urinary System Infection Unknown status NCT01760109 Phase 4
37 Clinical Trial to Compare Effectiveness of Diuretics in Hemodialysis Patients With Residual Renal Function Unknown status NCT01977430 Phase 4
38 A Prospective Study Comparing the Success Rate of Injection of (DefluxR) Versus (VantrisR) for VUR in Children Unknown status NCT02271035 Phase 4
39 Efficacy and Safety of a Covered Self-expandable Dual-layered Metallic Mesh Stent (UVENTA) in Ureteral Obstruction Unknown status NCT01788865 Phase 4
40 Citrate Versus Heparin for the Lock of Non-tunneled Hemodialysis Catheters in Patients Hospitalised in ICU Unknown status NCT01962116 Phase 4
41 Effect of 3g Versus 2 g MMF in Combination With Tacrolimus on Progression of Renal Allograft Interstitial Fibrosis Unknown status NCT01860183 Phase 4
42 Steroid Free Immunosuppression or Calcineurin Inhibitor Minimization After Basiliximab Induction Therapy in Kidney Transplantation: Comparison With a Standard Quadruple Immunosuppressive Regimen Unknown status NCT01560572 Phase 4
43 Inspiratory Muscle Training in Patients With End Stage Renal Failure Unknown status NCT01347775 Phase 4
44 Standard Versus Prolonged-release Tacrolimus Monotherapy After Alemtuzumab Induction in Kidney Transplantation Unknown status NCT00807144 Phase 4
45 Efficacy Study of Everolimus on Renal Function in Heart Transplant Recipients With Established Chronic Renal Failure Unknown status NCT00716573 Phase 4
46 Simvastatin Effect on End Stage Renal Failure Patients Treated by Peritoneal Dialysis Unknown status NCT00291863 Phase 4
47 Efficacy of Combined Intravesical Therapy With Hyaluronic Acid and Chondroitin Sulphate in the Treatment of Recurrent Cystitis Refractory to Escherichia Coli Extract Unknown status NCT02366676 Phase 4
48 Far Infrared Therapy on AV Fistula Flow, Endothelial Function and Echocardiography in ESRD Patients Unknown status NCT01138254 Phase 4
49 Hemocontrol's Effectiveness on the Reduction of Cardiovascular Long-term EventS Unknown status NCT01515878 Phase 4
50 CCB Safety Study in Treatment of Hypertension of ADPKD Unknown status NCT00541853 Phase 4

Search NIH Clinical Center for Urofacial Syndrome 1

Cochrane evidence based reviews: urologic diseases

Genetic Tests for Urofacial Syndrome 1

Genetic tests related to Urofacial Syndrome 1:

id Genetic test Affiliating Genes
1 Ochoa Syndrome 29
2 Urofacial Syndrome 24 HPSE2 LRIG2

Anatomical Context for Urofacial Syndrome 1

MalaCards organs/tissues related to Urofacial Syndrome 1:

39
Kidney

Publications for Urofacial Syndrome 1

Variations for Urofacial Syndrome 1

ClinVar genetic disease variations for Urofacial Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HPSE2 NM_021828.4(HPSE2): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs267606866 GRCh37 Chromosome 10, 100242490: 100242490
2 HPSE2 NM_021828.4(HPSE2): c.1465_1466delAA (p.Asn489Profs) deletion Pathogenic rs397515338 GRCh37 Chromosome 10, 100249808: 100249809
3 HPSE2 HPSE2, 2-BP DEL, 241CT deletion Pathogenic
4 HPSE2 HPSE2, EX8-9DEL deletion Pathogenic
5 HPSE2 HPSE2, EX3DEL deletion Pathogenic
6 HPSE2 NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter) single nucleotide variant Pathogenic rs267606864 GRCh37 Chromosome 10, 100249860: 100249860
7 HPSE2 NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter) single nucleotide variant Pathogenic rs267606865 GRCh37 Chromosome 10, 100904148: 100904148
8 HPSE2 HPSE2, 1-BP INS, 57C insertion Pathogenic
9 HPSE2 NM_021828.4(HPSE2): c.1628A> T (p.Asn543Ile) single nucleotide variant Pathogenic rs397515452 GRCh37 Chromosome 10, 100219482: 100219482

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
9.92 HPSE HPSE2

GO Terms for Urofacial Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.8 CHRM3 CNNM2 CNNM4

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

id Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan catabolic process GO:0006027 9.26 HPSE HPSE2
2 magnesium ion transmembrane transport GO:1903830 9.16 CNNM2 CNNM4
3 magnesium ion transport GO:0015693 8.96 CNNM2 CNNM4
4 magnesium ion homeostasis GO:0010960 8.62 CNNM2 CNNM4

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

id Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.16 DNM2 TP63
2 magnesium ion transmembrane transporter activity GO:0015095 8.96 CNNM2 CNNM4
3 heparanase activity GO:0030305 8.62 HPSE HPSE2

Sources for Urofacial Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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