UFS
MCID: URF001
MIFTS: 35

Urofacial Syndrome (UFS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Urofacial Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Urofacial Syndrome, also known as ochoa syndrome, is related to urofacial syndrome 1 and urofacial syndrome 2. An important gene associated with Urofacial Syndrome is HPSE2 (heparanase 2). Affiliated tissues include kidney.

Disease Ontology:8 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:21 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

Wikipedia:65 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...

Description from OMIM:47 236730,615112

GeneReviews summary for urofacial

Aliases & Classifications for Urofacial Syndrome

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

urofacial syndrome 8 19 43 20 21
ochoa syndrome 8 19 43 22 21 62
hydronephrosis with peculiar facial expression 8 43 21
partial facial palsy with urinary abnormalities 43 21
inverted smile and occult neuropathic bladder 43 21
urofacial ochoa's syndrome 43 21
ufs 43 21
hydronephrosis peculiar facial expression 43
inverted smile-neurogenic bladder 21
hydronephrosis-inverted smile 21


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Disease Ontology8 DOID:0050816

Related Diseases for Urofacial Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Urofacial Syndrome family:

Hpse2-Related Urofacial Syndrome Lrig2-Related Urofacial Syndrome
Urofacial Syndrome 2 Urofacial Syndrome 1

Diseases related to Urofacial Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1urofacial syndrome 130.7HPSE2
2urofacial syndrome 210.3
3uterine fibroid10.3
4neurogenic bladder10.2
5hpse2-related urofacial syndrome10.2
6lrig2-related urofacial syndrome10.2
7wilms tumor10.1
8hydrocephalus10.1
9lagophthalmos10.1
10hydrocephalus due to aqueductal stenosis10.1
11endemic goiter10.0
12goiter10.0

Graphical network of diseases related to Urofacial Syndrome:



Diseases related to urofacial syndrome

Symptoms for Urofacial Syndrome

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47OMIM
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Clinical features from OMIM:

236730,615112

Drugs & Therapeutics for Urofacial Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Urofacial Syndrome

Search NIH Clinical Center for Urofacial Syndrome

Genetic Tests for Urofacial Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Urofacial Syndrome:

id Genetic test Affiliating Genes
1 Urofacial Syndrome20 HPSE2, LRIG2
2 Ochoa Syndrome22

Anatomical Context for Urofacial Syndrome

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33MalaCards
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MalaCards organs/tissues related to Urofacial Syndrome:

33
Kidney

Animal Models for Urofacial Syndrome or affiliated genes

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Publications for Urofacial Syndrome

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52PubMed
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Articles related to Urofacial Syndrome:

(show all 17)
idTitleAuthorsYear
1
LRIG2 mutations cause urofacial syndrome. (23313374)
2013
2
Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): A novel sign. (24248520)
2013
3
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. (23832138)
2013
4
Urofacial syndrome. (22382233)
2012
5
First HPSE2 missense mutation in urofacial syndrome. (21332471)
2012
6
Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. (21450525)
2011
7
Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? (21492912)
2011
8
Ochoa syndrome: a spectrum of urofacial syndrome. (19669792)
2010
9
Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes? (21369396)
2010
10
Mutations in HPSE2 cause urofacial syndrome. (20560210)
2010
11
Ochoa or Urofacial syndrome. (20519791)
2010
12
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. (20560209)
2010
13
Urofacial syndrome. (18060224)
2007
14
Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. (16255797)
2005
15
High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. (12707951)
2003
16
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. (1897575)
1991
17
Urofacial syndrome. (2624278)
1989

Variations for Urofacial Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Urofacial Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPSE2NM_021828.4(HPSE2): c.1628A> T (p.Asn543Ile)single nucleotide variantPathogenicrs397515452GRCh37Chr 10, 100219482: 100219482
2HPSE2NM_021828.4(HPSE2): c.1516C> T (p.Arg506Ter)single nucleotide variantPathogenicrs267606866GRCh37Chr 10, 100242490: 100242490
3HPSE2NM_021828.4(HPSE2): c.1465_1466delAA (p.Asn489Profs)deletionPathogenicrs397515338GRCh37Chr 10, 100249808: 100249809
4HPSE2NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter)single nucleotide variantPathogenicrs267606864GRCh37Chr 10, 100249860: 100249860
5HPSE2NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter)single nucleotide variantPathogenicrs267606865GRCh37Chr 10, 100904148: 100904148

Expression for genes affiliated with Urofacial Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Urofacial Syndrome

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Pathways for genes affiliated with Urofacial Syndrome

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Compounds for genes affiliated with Urofacial Syndrome

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GO Terms for genes affiliated with Urofacial Syndrome

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16Gene Ontology
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Cellular components related to Urofacial Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.5CNNM1, HPSE2, LRIG2

Products for genes affiliated with Urofacial Syndrome

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  • Antibodies
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Sources for Urofacial Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet