Urofacial Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Neuronal diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 62The Human Phenotype Ontology
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Aliases & Descriptions for Urofacial Syndrome 1:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Age of onset: Childhood
urofacial syndrome 1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Neuronal diseases
NIH Rare Diseases:46 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, bone and endothelial, 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.
Genetics Home Reference:24 Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
OMIM:50 The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of... (236730) more...
UniProtKB/Swiss-Prot:68 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:69 Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an... more...
Symptoms by clinical synopsis from OMIM:236730
Clinical features from OMIM:236730
Symptoms:52 (show all 11)
HPO human phenotypes related to Urofacial Syndrome 1:(show all 17)
Drugs for Urofacial Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 724)
Interventional clinical trials:(show top 50) (show all 5000)
Search NIH Clinical Center for Urofacial Syndrome 1
MalaCards organs/tissues related to Urofacial Syndrome 1:34
Kidney, Bone, Endothelial, Heart, Testes, Liver, Bone marrow
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:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet