Urofacial Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Neuronal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Urofacial Syndrome 1:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Age of onset: Childhood
urofacial syndrome 1:
Inheritance: autosomal recessive inheritance
Penetrance: penetrance is complete in all series reported to date. however, variable expression from subtle to more striking clinical features is common...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Neuronal diseases
NIH Rare Diseases:47 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 is Glycosaminoglycan degradation. Affiliated tissues include kidney, heart and testes, and related mouse phenotypes are digestive/alimentary and renal/urinary system.
Disease Ontology:11 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:69 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:25 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
OMIM:51 The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of... (236730) more...
Wikipedia:70 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...
GeneReviews for NBK154138
Diseases in the Urofacial Syndrome 1 family:
Diseases related to Urofacial Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:(show all 20)
Graphical network of diseases related to Urofacial Syndrome 1:
Human phenotypes related to Urofacial Syndrome 1:63 53 (show all 17)
UMLS symptoms related to Urofacial Syndrome 1:dysuria, enuresis, oliguria and anuria, polyuria, pain in urethra, renal colic, urethral discharge, other abnormality of urination, other symptoms involving urinary system, chyluria, splitting of urinary stream, urethral burning on micturition, loin pain, ureteric pain, renal angle tenderness, difficulty passing urine, post void dribbling, continuous leakage of urine, painful bladder spasm, scalding pain on urination, genitourinary symptoms, poor stream of urine, painful hematuria, painless hematuria, traumatic hematuria, chemical hematuria, urinary system symptoms nos, extrarenal uremia, other difficulties with micturition, uti symptoms, bladder discomfort, renal pain, other and unspecified genitourinary symptoms, mixed urinary incontinence, cloudy (hemodialysis) (peritoneal) dialysis effluent, urinary tract signs and symptoms, urological problem, other polyuria, urethral discharge without blood, feeling of incomplete bladder emptying, strains to void
Drugs for Urofacial Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 1195)
Interventional clinical trials:(show top 50) (show all 5000)
Search NIH Clinical Center for Urofacial Syndrome 1
MalaCards organs/tissues related to Urofacial Syndrome 1:35
Kidney, Heart, Testes, Liver, Endothelial, Bone, Prostate
Clinvar genetic disease variations for Urofacial Syndrome 1:5
Search GEO for disease gene expression data for Urofacial Syndrome 1.
Cellular components related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Urofacial Syndrome 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet