Urofacial Syndrome 1 malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories

Aliases & Classifications for Urofacial Syndrome 1

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Aliases & Descriptions for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 49 11 67
Urofacial Syndrome 10 21 45 22 23 12 51 67
Ochoa Syndrome 10 45 23 51 24 67
Hydronephrosis with Peculiar Facial Expression 10 45 23 67
Partial Facial Palsy with Urinary Abnormalities 45 23 51
Inverted Smile and Occult Neuropathic Bladder 45 23 67
Ufs 45 23 67
Urofacial Ochoa's Syndrome 45 23
Partial Facial Palsy Partial with Urinary Abnormalities 67
Hydronephrosis Peculiar Facial Expression 45
Inverted Smile - Neurogenic Bladder 51
Inverted Smile-Neurogenic Bladder 23
Hydronephrosis - Inverted Smile 51
Hydronephrosis-Inverted Smile 23
Ufs1 67


Characteristics (Orphanet epidemiological data):

urofacial syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

External Ids:

OMIM49 236730
Disease Ontology10 DOID:0050816
Orphanet51 2704
MESH via Orphanet37 C536480
UMLS via Orphanet66 C0403555
MedGen34 C0403555

Summaries for Urofacial Syndrome 1

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NIH Rare Diseases:45 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 1, also known as urofacial syndrome, is related to urofacial syndrome 2 and uterine fibroid, and has symptoms including recurrent urinary tract infections, cryptorchidism and vesicoureteral reflux. An important gene associated with Urofacial Syndrome 1 is HPSE2 (Heparanase 2 (Inactive)), and among its related pathways are Glycosaminoglycan degradation and Syndecan-4-mediated signaling events. Affiliated tissues include kidney and testes, and related mouse phenotypes are vision/eye and muscle.

Disease Ontology:10 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:23 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

OMIM:49 The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of... (236730) more...

UniProtKB/Swiss-Prot:67 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:68 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...

GeneReviews summary for urofacial

Related Diseases for Urofacial Syndrome 1

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Diseases in the Urofacial Syndrome 1 family:

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

Diseases related to Urofacial Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1urofacial syndrome 210.6
2uterine fibroid10.5
3lrig2-related urofacial syndrome10.4
6connective tissue benign neoplasm10.4
7connective tissue cancer10.4
8connective tissue disease10.4
9uterine disease10.4
10neurogenic bladder10.3
11muscle tissue disease10.3
12hpse2-related urofacial syndrome10.2
13greenberg skeletal dysplasia10.2
14female reproductive organ cancer10.2
15female reproductive system disease10.2
16hydrocephalus due to aqueductal stenosis10.1
19pain disorder10.1
20central nervous system leiomyoma10.1
21endometriosis of uterus10.1
23prune belly syndrome10.0ACTA2, CHRM3
24endometrial cancer10.0
25coronary heart disease 410.0
26peripheral vascular disease10.0
27brain injury10.0
28congestive heart failure10.0
29traumatic brain injury10.0
30uterine inflammatory disease10.0
31vertebral artery occlusion10.0
32arteriovenous malformation10.0
34spastic diplegia10.0
35intravenous leiomyomatosis10.0
36uterus intravascular leiomyomatosis10.0
37endemic goiter10.0
38hemoglobin e disease10.0
39bone cancer10.0
40central nervous system cancer10.0
41congenital heart disease10.0
45movement disease10.0
47peripheral nervous system neoplasm10.0
48vascular cancer10.0
49pontine hemorrhage10.0
50vascular malformation10.0

Graphical network of the top 20 diseases related to Urofacial Syndrome 1:

Diseases related to urofacial syndrome 1

Symptoms for Urofacial Syndrome 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 51 (show all 12)
  • recurrent urinary infections
  • autosomal recessive inheritance
  • constipation
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • encopresis/fecal incontinence
  • chronic arterial hypertension
  • renal failure
  • thirst

HPO human phenotypes related to Urofacial Syndrome 1:

(show all 18)
id Description Frequency HPO Source Accession
1 recurrent urinary tract infections hallmark (90%) HP:0000010
2 cryptorchidism typical (50%) HP:0000028
3 vesicoureteral reflux typical (50%) HP:0000076
4 abnormality of the urethra typical (50%) HP:0000795
5 constipation typical (50%) HP:0002019
6 renal insufficiency occasional (7.5%) HP:0000083
7 hypertension occasional (7.5%) HP:0000822
8 bowel incontinence occasional (7.5%) HP:0002607
9 autosomal recessive inheritance HP:0000007
10 recurrent urinary tract infections HP:0000010
11 cryptorchidism HP:0000028
12 hydroureter HP:0000072
13 hydronephrosis HP:0000126
14 enuresis HP:0000805
15 abnormal facial shape HP:0001999
16 constipation HP:0002019
17 abnormal facial expression HP:0005346
18 urethral valve HP:0010481

Drugs & Therapeutics for Urofacial Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Urofacial Syndrome 1

Genetic Tests for Urofacial Syndrome 1

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Genetic tests related to Urofacial Syndrome 1:

id Genetic test Affiliating Genes
1 Urofacial Syndrome22 HPSE2, LRIG2
2 Ochoa Syndrome24

Anatomical Context for Urofacial Syndrome 1

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MalaCards organs/tissues related to Urofacial Syndrome 1:

Kidney, Testes

Animal Models for Urofacial Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Urofacial Syndrome 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.8ACTA2, CBS, CHRM3, FGF2, TP63
2MP:00053697.2ACTA2, CBS, CHRM3, DNM2, FGF2, TP63
3MP:00053857.2ACTA2, CBS, CHRM3, FGF2, HPSE, TP63

Publications for Urofacial Syndrome 1

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Variations for Urofacial Syndrome 1

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Clinvar genetic disease variations for Urofacial Syndrome 1:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1LRIG2NM_014813.2(LRIG2): c.1230delA (p.Glu410Aspfs)deletionPathogenicrs587776945GRCh37Chr 1, 113642890: 113642890
2LRIG2NM_014813.2(LRIG2): c.2125C> T (p.Arg709Ter)single nucleotide variantPathogenicrs587776946GRCh37Chr 1, 113657093: 113657093
3LRIG2NM_014813.2(LRIG2): c.2088delC (p.Ser697Hisfs)deletionPathogenicrs587776947GRCh37Chr 1, 113657056: 113657056
4LRIG2NM_014813.2(LRIG2): c.1980_1981insJX891452.1: g.1_371 (p.Ile662Phefs)insertionPathogenicGRCh37Chr 1, 113655282: 113655283
5HPSE2NM_021828.4(HPSE2): c.1628A> T (p.Asn543Ile)single nucleotide variantPathogenicrs397515452GRCh37Chr 10, 100219482: 100219482
6HPSE2NM_021828.4(HPSE2): c.1516C> T (p.Arg506Ter)single nucleotide variantPathogenicrs267606866GRCh37Chr 10, 100242490: 100242490
7HPSE2NM_021828.4(HPSE2): c.1465_1466delAA (p.Asn489Profs)deletionPathogenicrs397515338GRCh37Chr 10, 100249808: 100249809
8HPSE2HPSE2, 2-BP DEL, 241CTdeletionPathogenic
9HPSE2HPSE2, EX8-9DELdeletionPathogenic
10HPSE2HPSE2, EX3DELdeletionPathogenic
11HPSE2NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter)single nucleotide variantPathogenicrs267606864GRCh37Chr 10, 100249860: 100249860
12HPSE2NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter)single nucleotide variantPathogenicrs267606865GRCh37Chr 10, 100904148: 100904148
13HPSE2HPSE2, 1-BP INS, 57CinsertionPathogenic

Expression for genes affiliated with Urofacial Syndrome 1

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Search GEO for disease gene expression data for Urofacial Syndrome 1.

Pathways for genes affiliated with Urofacial Syndrome 1

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Pathways related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
29.1DNM2, FGF2

GO Terms for genes affiliated with Urofacial Syndrome 1

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Cellular components related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.4CHRM3, CNNM2, CNNM4

Biological processes related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1magnesium ion homeostasisGO:001096010.2CNNM2, CNNM4
2glycosaminoglycan catabolic processGO:000602710.2HPSE, HPSE2
3magnesium ion transportGO:00156939.8CNNM2, CNNM4
4positive regulation of osteoblast differentiationGO:00456699.2FGF2, TP63

Molecular functions related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heparanase activityGO:003030510.3HPSE, HPSE2
2hydrolase activity, acting on glycosyl bondsGO:00167989.9HPSE, HPSE2
3WW domain bindingGO:00506999.5DNM2, TP63

Sources for Urofacial Syndrome 1

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet