MCID: URF003
MIFTS: 42

Urofacial Syndrome 1

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

Aliases & Classifications for Urofacial Syndrome 1

MalaCards integrated aliases for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 53 71 13
Urofacial Syndrome 53 12 23 49 24 55 71 36 14
Ochoa Syndrome 53 12 72 23 49 24 55 71 28
Hydronephrosis with Peculiar Facial Expression 53 12 49 24 71
Inverted Smile and Occult Neuropathic Bladder 53 49 24 71
Ufs 53 49 24 71
Partial Facial Palsy with Urinary Abnormalities 49 24 55
Urofacial Ochoa's Syndrome 49 24
Urologic Diseases 41 69
Ufs1 53 71
Partial Facial Palsy Partial with Urinary Abnormalities 71
Facial Palsy, Partial, with Urinary Abnormalities 53
Inverted Smile-Neurogenic Bladder Syndrome 55
Hydronephrosis Peculiar Facial Expression 49
Hydronephrosis-Inverted Smile Syndrome 55
Inverted Smile-Neurogenic Bladder 24
Hydronephrosis-Inverted Smile 24
Urofacial Syndrome; Ufs 53

Characteristics:

Orphanet epidemiological data:

55
ochoa syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
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 53 236730
Disease Ontology 12 DOID:0050816
Orphanet 55 ORPHA2704
MESH via Orphanet 42 C536480
UMLS via Orphanet 70 C0403555
ICD10 via Orphanet 33 N31.8
MedGen 39 C0403555
KEGG 36 H00753
UMLS 69 C0042075

Summaries for Urofacial Syndrome 1

NIH Rare Diseases : 49 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, prophylacticantibiotics, 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 urinary tract obstruction and urinary system disease, 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 are Glycosaminoglycan degradation and Metabolic pathways. Affiliated tissues include kidney.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

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.

Wikipedia : 72 Urofacial syndrome ( or hydronephrosis with peculiar facial expression), is an autosomal... 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 22)
# Related Disease Score Top Affiliating Genes
1 urinary tract obstruction 11.5
2 urinary system disease 11.0
3 urofacial syndrome 2 11.0
4 binswanger's disease 10.8
5 dementia - subcortical 10.8
6 subcortical arteriosclerotic encephalopathy 10.8
7 neurogenic bladder 10.0 HPSE2 LRIG2
8 prune belly syndrome 9.9 ACTA2 CHRM3
9 exstrophy of bladder 9.9 LRIG2 TP63
10 testicular cancer 9.7
11 plexiform neurofibroma 9.7
12 neurofibroma 9.7
13 germ cells tumors 9.7
14 aortic aneurysm, familial abdominal, 1 9.5
15 mycobacterium tuberculosis 1 9.5
16 prostatic hypertrophy 9.5
17 prostatitis 9.5
18 urogenital tuberculosis 9.5
19 aortic aneurysm 9.5
20 priapism 9.5
21 aneurysm 9.5
22 marfan syndrome 9.4 ACTA2 CBS

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

Symptoms via clinical synopsis from OMIM:

53
GenitourinaryExternalGenitaliaMale:
cryptorchidism

GenitourinaryUreters:
hydroureter
urethral obstruction
urethral valves

HeadAndNeckFace:
peculiar facies
crying facial expression when laughing

GenitourinaryKidneys:
hydronephrosis

GenitourinaryBladder:
enuresis
urinary tract infection
mild neuropathic bladder

AbdomenGastrointestinal:
constipation, moderate to severe


Clinical features from OMIM:

236730

Human phenotypes related to Urofacial Syndrome 1:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 polydipsia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001959
3 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
4 bowel incontinence 55 31 occasional (7.5%) Occasional (29-5%) HP:0002607
5 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
6 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
7 vesicoureteral reflux 55 31 frequent (33%) Frequent (79-30%) HP:0000076
8 recurrent urinary tract infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0000010
9 hydronephrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000126
10 urinary incontinence 55 31 frequent (33%) Frequent (79-30%) HP:0000020
11 urethral obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0000796
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

UMLS symptoms related to Urofacial Syndrome 1:


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

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 28 HPSE2

Anatomical Context for Urofacial Syndrome 1

MalaCards organs/tissues related to Urofacial Syndrome 1:

38
Kidney

Publications for Urofacial Syndrome 1

Articles related to Urofacial Syndrome 1:

(show all 23)
# Title Authors Year
1
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
2
HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction. ( 25924634 )
2015
3
A mouse model of urofacial syndrome with dysfunctional urination. ( 25510506 )
2015
4
Clinical and genetic characteristics for the Urofacial Syndrome (UFS). ( 24966895 )
2014
5
Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. ( 24691552 )
2014
6
LRIG2 mutations cause urofacial syndrome. ( 23313374 )
2013
7
Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): A novel sign. ( 24248520 )
2013
8
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. ( 23832138 )
2013
9
First HPSE2 missense mutation in urofacial syndrome. ( 21332471 )
2012
10
Urofacial syndrome. ( 22382233 )
2012
11
Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? ( 21492912 )
2011
12
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. ( 21450525 )
2011
13
Ochoa or Urofacial syndrome. ( 20519791 )
2010
14
Mutations in HPSE2 cause urofacial syndrome. ( 20560210 )
2010
15
Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes? ( 21369396 )
2010
16
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. ( 20560209 )
2010
17
Ochoa syndrome: a spectrum of urofacial syndrome. ( 19669792 )
2010
18
Urofacial syndrome. ( 18060224 )
2007
19
Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. ( 16255797 )
2005
20
High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. ( 12707951 )
2003
21
Urofacial Syndrome ( 23967498 )
1993
22
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. ( 1897575 )
1991
23
Urofacial syndrome. ( 2624278 )
1989

Variations for Urofacial Syndrome 1

ClinVar genetic disease variations for Urofacial Syndrome 1:

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

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:

36
# 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 9.33 CNNM1 CNNM4 LRIG2
2 basolateral plasma membrane GO:0016323 9.13 CHRM3 CNNM2 CNNM4
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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