Urofacial Syndrome 1 malady
Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories
Aliases & Descriptions for Urofacial Syndrome 1:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Neuronal diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Childhood
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
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 11)
Graphical network of diseases related to Urofacial Syndrome 1:
Symptoms by clinical synopsis from OMIM:236730
Clinical features from OMIM:236730
Symptoms:48 (show all 12)
HPO human phenotypes related to Urofacial Syndrome 1:(show all 18)
MalaCards organs/tissues related to Urofacial Syndrome 1:31
Clinvar genetic disease variations for Urofacial Syndrome 1:5 (show all 13)
Search GEO for disease gene expression data for Urofacial Syndrome 1.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet