Urofacial Syndrome 1 malady

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

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 21 45 23 51 67 24
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
Inverted Smile-Neurogenic Bladder Syndrome 51
Hydronephrosis Peculiar Facial Expression 45
Hydronephrosis-Inverted Smile Syndrome 51
Inverted Smile-Neurogenic Bladder 23
Hydronephrosis-Inverted Smile 23
Ufs1 67


Orphanet epidemiological data:

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


urofacial syndrome 1:
Inheritance: autosomal recessive inheritance


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 lrig2-related urofacial syndrome, 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 digestive/alimentary and renal/urinary system.

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.

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.

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...

Wikipedia:68 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...

GeneReviews summary for NBK154138

Related Diseases for Urofacial Syndrome 1

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Graphical network of 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 17)
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 urethral valve HP:0010481
10 abnormal facial expression HP:0005346
11 constipation HP:0002019
12 abnormal facial shape HP:0001999
13 enuresis HP:0000805
14 hydronephrosis HP:0000126
15 hydroureter HP:0000072
16 cryptorchidism HP:0000028
17 recurrent urinary tract infections HP:0000010

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

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:00053818.4CHRM3, CNNM4, DNM2, HPSE2, TP63
2MP:00053678.2CHRM3, CNNM4, DNM2, HPSE2, TP63
3MP:00053697.9ACTA2, CHRM3, DNM2, FGF2, TP63
4MP:00053917.6ACTA2, CHRM3, CNNM4, DNM2, FGF2, 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:

id Gene Variation 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
4HPSE2HPSE2, 2-BP DEL, 241CTdeletionPathogenic
5HPSE2HPSE2, EX8-9DELdeletionPathogenic
6HPSE2HPSE2, EX3DELdeletionPathogenic
7HPSE2NM_021828.4(HPSE2): c.1414C> T (p.Arg472Ter)single nucleotide variantPathogenicrs267606864GRCh37Chr 10, 100249860: 100249860
8HPSE2NM_021828.4(HPSE2): c.457C> T (p.Arg153Ter)single nucleotide variantPathogenicrs267606865GRCh37Chr 10, 100904148: 100904148
9HPSE2HPSE2, 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 pathwaysScoreTop Affiliating Genes
Show member pathways
29.1DNM2, FGF2

GO Terms for genes affiliated with Urofacial Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast differentiationGO:00456699.5FGF2, TP63
2small molecule metabolic processGO:00442818.7CBS, DNM2, HPSE, HPSE2

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