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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46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 22GTR, 34MESH via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Urofacial Syndrome 1:

Name: Urofacial Syndrome 1 46 9
Urofacial Syndrome 8 19 42 20 21 48
Ochoa Syndrome 8 19 42 21 48 22
Partial Facial Palsy with Urinary Abnormalities 42 21 48
Hydronephrosis with Peculiar Facial Expression 8 42 21
Inverted Smile and Occult Neuropathic Bladder 42 21
Inverted Smile - Neurogenic Bladder 42 48
Hydronephrosis - Inverted Smile 42 48
Urofacial Ochoa's Syndrome 42 21
Ufs 42 21
Hydronephrosis Peculiar Facial Expression 42
Inverted Smile-Neurogenic Bladder 21
Hydronephrosis-Inverted Smile 21


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 236730
Disease Ontology8 DOID:0050816
Orphanet48 2704
MESH via Orphanet34 C536480
UMLS via Orphanet62 C0403555

Summaries for Urofacial Syndrome 1

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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 based summary: Urofacial Syndrome 1, also known as urofacial syndrome, is related to urofacial syndrome 2 and hpse2-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). Affiliated tissues include kidney and testes.

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.

OMIM:46 The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of... (236730) more...

Wikipedia:64 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 all 11)
idRelated DiseaseScoreTop Affiliating Genes
1urofacial syndrome 210.5
2hpse2-related urofacial syndrome10.4
3lrig2-related urofacial syndrome10.4
4uterine fibroid10.3
5neurogenic bladder10.3
6wilms tumor10.1
7hydrocephalus due to aqueductal stenosis10.1
10endemic goiter10.1

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:



 48 (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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Drug clinical trials:

Search ClinicalTrials for Urofacial Syndrome 1

Search 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 Syndrome20 HPSE2, LRIG2
2 Ochoa Syndrome22

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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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_014813.1(LRIG2): c.1230delA (p.Glu410Aspfs)deletionPathogenicGRCh37Chr 1, 113642890: 113642890
2LRIG2NM_014813.1(LRIG2): c.2125C> T (p.Arg709Ter)single nucleotide variantPathogenicGRCh37Chr 1, 113657093: 113657093
3LRIG2NM_014813.1(LRIG2): c.2088delC (p.Ser697Hisfs)deletionPathogenicGRCh37Chr 1, 113657056: 113657056
4LRIG2NM_014813.1(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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Compounds for genes affiliated with Urofacial Syndrome 1

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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
1plasma membraneGO:00058869.1HPSE2, LRIG2

Sources for Urofacial Syndrome 1

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet