Log In|Sign Up
ENLowe Oculocerebrorenal Syndrome (OCRL)
Alias:
Lowe Syndrome
Oculocerebrorenal Syndrome
Oculocerebrorenal Syndrome of Lowe
Ocrl
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Lowe Disease
Lowe Oculo-Cerebro-Renal Dystrophy
Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Ocrl1 - [oculocerebrorenal Syndrome]
Chromosome 11p Deletion Syndrome
Lowe-Terrey-Maclachlan Syndrome
Cerebro-Oculorenal Dystrophy
Oculocerebrorenal Dystrophy
Renal-Oculocerebrodystrophy
Cerebrooculorenal Syndrome
Ocrl1
Low
Favorite
Lowe Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent disease 2 and donnai-barrow syndrome, and has symptoms including constipation An important gene associated with Lowe Oculocerebrorenal Syndrome is OCRL (OCRL Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and nystagmus
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
