UFS
MCID: URF001
MIFTS: 33

Urofacial Syndrome (UFS) malady

Neuronal diseases, Nephrological diseases categories

Summaries for Urofacial Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 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:63 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...

Description from OMIM:46 615112,236730

GeneReviews summary for urofacial

Aliases & Classifications for Urofacial Syndrome

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Sources:
8Disease Ontology, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 42NIH Rare Diseases, 22GTR, 60UMLS, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Nephrological diseases


Aliases & Descriptions:

urofacial syndrome 8 19 20 21
ochoa syndrome 8 19 42 22 21 60
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


External Ids:

Disease Ontology8 DOID:0050816

Related Diseases for Urofacial Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Urofacial Syndrome 1 family:

urofacial syndrome Hpse2-Related Urofacial Syndrome
Lrig2-Related Urofacial Syndrome Urofacial Syndrome 2

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

idRelated DiseaseScoreTop Affiliating Genes
1urofacial syndrome 110.4
2urofacial syndrome 210.3
3neurogenic bladder10.2
4hpse2-related urofacial syndrome10.2
5lrig2-related urofacial syndrome10.2
6bladder disease10.1
7hydrocephalus10.1
8lagophthalmos10.1
9endemic goiter10.0
10goiter10.0

Graphical network of diseases related to Urofacial Syndrome:



Diseases related to urofacial syndrome

Clinical Features for Urofacial Syndrome

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46OMIM
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Clinical features from OMIM:

615112,236730

Drugs & Therapeutics for Urofacial Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Urofacial Syndrome

Drug clinical trials:

Search ClinicalTrials for Urofacial Syndrome

Search NIH Clinical Center for Urofacial Syndrome

Search CenterWatch for Urofacial Syndrome

Genetic Tests for Urofacial Syndrome

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Urofacial Syndrome:

32
Kidney

Animal Models for Urofacial Syndrome or affiliated genes

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Publications for Urofacial Syndrome

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50PubMed
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Articles related to Urofacial Syndrome:

(show all 22)
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
Occurrence of Wilms tumor in a child with urofacial (OCHOA) syndrome. (21875320)
2011
8
Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes? (21492912)
2011
9
Ochoa syndrome: a spectrum of urofacial syndrome. (19669792)
2010
10
Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes? (21369396)
2010
11
Mutations in HPSE2 cause urofacial syndrome. (20560210)
2010
12
Ochoa or Urofacial syndrome. (20519791)
2010
13
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. (20560209)
2010
14
Urofacial syndrome. (18060224)
2007
15
Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. (16255797)
2005
16
High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. (12707951)
2003
17
Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene. (10360399)
1999
18
Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). (10458906)
1999
19
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. (9199567)
1997
20
Urofacial Syndrome (23967498)
1993
21
Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. (1897575)
1991
22
Urofacial syndrome. (2624278)
1989

Genetic Variations for Urofacial Syndrome

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Expression for genes affiliated with Urofacial Syndrome

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Sources:
1BioGPS, 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:0058868.5LRIG2, HPSE2, CNNM1

Products for genes affiliated with Urofacial Syndrome

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  • Antibodies
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Sources for Urofacial Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet