GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Lowe Syndrome  
Disease Aliases (31)

Cerebro oculo renal syndrome

Cerebro-oculo-renal syndrome

Cerebro-oculorenal dystrophy

Cerebrooculorenal syndrome

Deficiency, phosphatidylinositol-4,5-bisphosphate-5-phosphatase

Dystrophy, oculocerebrorenal

Lowe syndrome

Lowe bickel syndrome

Lowe disease

Lowe oculocerebrorenal syndrome

Lowe terrey maclachlan syndrome

Lowe oculo-cerebro-renal dystrophy

Lowe oculo-cerebro-renal syndrome

Lowe oculocerebrorenal dystrophy

Lowe oculocerebrorenal syndrome; ocrl

Lowe-bickel syndrome

Lowe-terrey-maclachlan syndrome

Ocr

Ocrl

Ocrl1

Oculo-cerebro-renal syndrome

Oculocerebrorenal dystrophy

Oculocerebrorenal syndrome

Oculocerebrorenal syndrome of lowe

Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency

Phosphatidylinositol 4,5 bisphosphate 5 phosphatase deficiency

Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency

Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency

Renal oculocerebrodystrophy

Renal-oculocerebrodystrophy

Oculo-cerebro-renal dystrophy

Associated Genes (1)
 

NCBI-RefSeq:  OCRL   (OCRL inositol polyphosphate-5-phosphatase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Lowe syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations