UFS1
MCID: URF003
MIFTS: 44

Urofacial Syndrome 1 (UFS1)

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

Aliases & Classifications for Urofacial Syndrome 1

MalaCards integrated aliases for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 58 76 13
Urofacial Syndrome 58 12 25 54 26 60 76 38 45 15
Ochoa Syndrome 58 12 77 54 26 60 76 30 6
Hydronephrosis with Peculiar Facial Expression 58 12 54 26 76
Inverted Smile and Occult Neuropathic Bladder 58 54 26 76
Ufs 58 54 26 76
Partial Facial Palsy with Urinary Abnormalities 54 26 60
Urofacial Ochoa's Syndrome 54 26
Urologic Diseases 45 74
Ufs1 58 76
Partial Facial Palsy Partial with Urinary Abnormalities 76
Facial Palsy, Partial, with Urinary Abnormalities 58
Inverted Smile-Neurogenic Bladder Syndrome 60
Hydronephrosis-Inverted Smile Syndrome 60
Inverted Smile-Neurogenic Bladder 26
Hydronephrosis-Inverted Smile 26
Urofacial Syndrome, Type 1 41
Urofacial Syndrome; Ufs 58

Characteristics:

Orphanet epidemiological data:

60
ochoa syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
urofacial syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050816
OMIM 58 236730
KEGG 38 H00753
MESH via Orphanet 46 C536480
ICD10 via Orphanet 35 N31.8
UMLS via Orphanet 75 C0403555
Orphanet 60 ORPHA2704
MedGen 43 C0403555
UMLS 74 C0042075

Summaries for Urofacial Syndrome 1

NIH Rare Diseases : 54 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. The urinary problems associated with the condition, which often start in early childhood or adolescence, may include the inability to control urination (incontinence), inability to completely empty the bladder, urinary tract infections, the buildup of urine in the kidneys, 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 or the LRIG2 gene and is inherited in an autosomal recessive manner.Treatment may involve surgery, antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers.

MalaCards based summary : Urofacial Syndrome 1, also known as urofacial syndrome, is related to neurogenic bladder and urinary system disease, 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. Affiliated tissues include kidney and eye, and related phenotypes are recurrent urinary tract infections and constipation

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 : 26 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Urofacial syndrome, or Ochoa syndrome is an autosomal recessivecongenital disorder characterized by an... more...

GeneReviews:

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 45)
# Related Disease Score Top Affiliating Genes
1 neurogenic bladder 30.2 HPSE2 LRIG2
2 urinary system disease 11.2
3 urinary tract obstruction 11.2
4 urofacial syndrome 2 11.2
5 binswanger's disease 11.0
6 subcortical arteriosclerotic encephalopathy 11.0
7 dementia - subcortical 11.0
8 multiple sclerosis 10.2
9 tetralogy of fallot 10.2
10 adenomyosis 10.2
11 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
12 lig4 syndrome 10.0
13 hydrocephalus 10.0
14 lagophthalmos 10.0
15 hinman syndrome 10.0
16 elastosis perforans serpiginosa 10.0
17 bornholm eye disease 10.0
18 wilms tumor 5 10.0
19 acute insulin response 10.0
20 wilms tumor 6 10.0
21 goiter 10.0
22 endemic goiter 10.0
23 exstrophy of bladder 9.8 LRIG2 TP63
24 prostatic hyperplasia, benign 9.8
25 testicular cancer 9.8
26 plexiform neurofibroma 9.8
27 priapism 9.8
28 neurofibroma 9.8
29 prune belly syndrome 9.7 ACTA2 CHRM3 LRIG2
30 aortic aneurysm, familial abdominal, 1 9.6
31 bladder cancer 9.6
32 nephrolithiasis, calcium oxalate 9.6
33 neural tube defects 9.6
34 helicobacter pylori infection 9.6
35 blood group, junior system 9.6
36 nephrolithiasis 9.6
37 chikungunya 9.6
38 sexual disorder 9.6
39 myelomeningocele 9.6
40 prostatic hypertrophy 9.6
41 urethral stricture 9.6
42 urogenital tuberculosis 9.6
43 kidney cancer 9.6
44 prostatic adenoma 9.6
45 aortic aneurysm 9.6

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0000010
2 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
3 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
4 vesicoureteral reflux 60 33 frequent (33%) Frequent (79-30%) HP:0000076
5 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
6 urinary incontinence 60 33 frequent (33%) Frequent (79-30%) HP:0000020
7 urethral obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0000796
8 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
9 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
10 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
11 polydipsia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001959
12 abnormal facial shape 33 HP:0001999
13 urethral valve 33 HP:0010481
14 hydroureter 33 HP:0000072
15 enuresis 33 HP:0000805
16 abnormal facial expression 33 HP:0005346

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
cryptorchidism

Genitourinary Ureters:
hydroureter
urethral obstruction
urethral valves

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

Genitourinary Kidneys:
hydronephrosis

Genitourinary Bladder:
enuresis
urinary tract infection
mild neuropathic bladder

Abdomen Gastrointestinal:
constipation, moderate to severe

Clinical features from OMIM:

236730

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

MGI Mouse Phenotypes related to Urofacial Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.35 CBSL CHRM3 CNNM4 HPSE2 TP63
2 vision/eye MP:0005391 9.02 ACTA2 CBSL CHRM3 CNNM4 TP63

Drugs & Therapeutics for Urofacial Syndrome 1

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Ochoa Syndrome 30 HPSE2

Anatomical Context for Urofacial Syndrome 1

MalaCards organs/tissues related to Urofacial Syndrome 1:

42
Kidney, Eye

Publications for Urofacial Syndrome 1

Articles related to Urofacial Syndrome 1:

(show all 26)
# Title Authors Year
1
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. ( 30885509 )
2019
2
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. ( 27855655 )
2016
3
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction. ( 25924634 )
2015
4
A mouse model of urofacial syndrome with dysfunctional urination. ( 25510506 )
2015
5
The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications. ( 25946049 )
2015
6
Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign. ( 24248520 )
2014
7
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. ( 23832138 )
2014
8
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. ( 24691552 )
2014
9
Clinical and genetic characteristics for the Urofacial Syndrome (UFS). ( 24966895 )
2014
10
LRIG2 mutations cause urofacial syndrome. ( 23313374 )
2013
11
First HPSE2 missense mutation in urofacial syndrome. ( 21332471 )
2012
12
Urofacial syndrome. ( 22382233 )
2012
13
Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? ( 21492912 )
2011
14
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. ( 21450525 )
2011
15
Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes? ( 21369396 )
2010
16
Ochoa syndrome: a spectrum of urofacial syndrome. ( 19669792 )
2010
17
Ochoa or Urofacial syndrome. ( 20519791 )
2010
18
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. ( 20560209 )
2010
19
Mutations in HPSE2 cause urofacial syndrome. ( 20560210 )
2010
20
Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction? ( 19839856 )
2009
21
Urofacial syndrome. ( 18060224 )
2007
22
Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. ( 16255797 )
2005
23
High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. ( 12707951 )
2003
24
Three new European cases of urofacial (Ochoa) syndrome. ( 11446407 )
2001
25
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. ( 1897575 )
1991
26
Urofacial syndrome. ( 2624278 )
1989

Variations for Urofacial Syndrome 1

ClinVar genetic disease variations for Urofacial Syndrome 1:

6 (show all 16)
# 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.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs267606866 GRCh38 Chromosome 10, 98482733: 98482733
3 HPSE2 NM_021828.4(HPSE2): c.1465_1466delAA (p.Asn489Profs) deletion Pathogenic rs397515338 GRCh37 Chromosome 10, 100249808: 100249809
4 HPSE2 NM_021828.4(HPSE2): c.1465_1466delAA (p.Asn489Profs) deletion Pathogenic rs397515338 GRCh38 Chromosome 10, 98490051: 98490052
5 HPSE2 NM_021828.4(HPSE2): c.241_242delCT (p.Leu81Alafs) deletion Pathogenic GRCh38 Chromosome 10, 99235561: 99235562
6 HPSE2 NM_021828.4(HPSE2): c.241_242delCT (p.Leu81Alafs) deletion Pathogenic GRCh37 Chromosome 10, 100995318: 100995319
7 HPSE2 HPSE2, EX8-9DEL deletion Pathogenic
8 HPSE2 HPSE2, EX3DEL deletion Pathogenic
9 HPSE2 NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter) single nucleotide variant Pathogenic rs267606864 GRCh37 Chromosome 10, 100249860: 100249860
10 HPSE2 NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter) single nucleotide variant Pathogenic rs267606864 GRCh38 Chromosome 10, 98490103: 98490103
11 HPSE2 NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter) single nucleotide variant Pathogenic rs267606865 GRCh37 Chromosome 10, 100904148: 100904148
12 HPSE2 NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter) single nucleotide variant Pathogenic rs267606865 GRCh38 Chromosome 10, 99144391: 99144391
13 HPSE2 NM_021828.4(HPSE2): c.57dup (p.Ala20Argfs) duplication Pathogenic GRCh37 Chromosome 10, 100995503: 100995503
14 HPSE2 NM_021828.4(HPSE2): c.57dup (p.Ala20Argfs) duplication Pathogenic GRCh38 Chromosome 10, 99235746: 99235746
15 HPSE2 NM_021828.4(HPSE2): c.1628A> T (p.Asn543Ile) single nucleotide variant Pathogenic rs397515452 GRCh37 Chromosome 10, 100219482: 100219482
16 HPSE2 NM_021828.4(HPSE2): c.1628A> T (p.Asn543Ile) single nucleotide variant Pathogenic rs397515452 GRCh38 Chromosome 10, 98459725: 98459725

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:

38
# 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
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:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.43 CNNM1 CNNM4 LRIG2
2 extracellular matrix GO:0031012 9.33 HPSE HPSE2 LRIG2
3 basolateral plasma membrane GO:0016323 9.13 CHRM3 CNNM2 CNNM4
4 dendrite GO:0030425 8.92 CHRM3 CNNM1 CNNM4 TP63

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 9.26 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:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.16 HPSE HPSE2
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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