UFS
MCID: URF001
MIFTS: 36

Urofacial Syndrome (UFS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases categories
Download this MalaCard

Summaries for Urofacial Syndrome

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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, 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...

Descriptions from OMIM:46 236730,615112

GeneReviews summary for urofacial

Aliases & Classifications for Urofacial Syndrome

About this section

Urofacial Syndrome, Aliases & Descriptions:

Name: Urofacial Syndrome 8 19 42 20 21
Ochoa Syndrome 8 19 42 22 21 62
Hydronephrosis with Peculiar Facial Expression 8 42 21
Partial Facial Palsy with Urinary Abnormalities 42 21
Inverted Smile and Occult Neuropathic Bladder 42 21
 
Urofacial Ochoa's Syndrome 42 21
Ufs 42 21
Hydronephrosis Peculiar Facial Expression 42
Inverted Smile-Neurogenic Bladder 21
Hydronephrosis-Inverted Smile 21


Classifications:



External Ids:

Disease Ontology8 DOID:0050816

Related Diseases for Urofacial Syndrome

About this section

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 131.0HPSE2
2urofacial syndrome 210.4
3uterine fibroid10.3
4neurogenic bladder10.3
5hpse2-related urofacial syndrome10.3
6lrig2-related urofacial syndrome10.3
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

About this section


Clinical features from OMIM:

236730,615112

Drugs & Therapeutics for Urofacial Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Urofacial Syndrome

Search NIH Clinical Center for Urofacial Syndrome

Genetic Tests for Urofacial Syndrome

About this section

Genetic tests related to Urofacial Syndrome:

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

Anatomical Context for Urofacial Syndrome

About this section

MalaCards organs/tissues related to Urofacial Syndrome:

32
Kidney

Animal Models for Urofacial Syndrome or affiliated genes

About this section

Publications for Urofacial Syndrome

About this section

Articles related to Urofacial Syndrome:

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

Variations for Urofacial Syndrome

About this section

Clinvar genetic disease variations for Urofacial Syndrome:

6
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

About this section
Expression patterns in normal tissues for genes affiliated with Urofacial Syndrome

Search GEO for disease gene expression data for Urofacial Syndrome.

Pathways for genes affiliated with Urofacial Syndrome

About this section

Compounds for genes affiliated with Urofacial Syndrome

About this section

GO Terms for genes affiliated with Urofacial Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Urofacial Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet