Lowe syndrome
| Oculocerebrorenal syndrome | |
|---|---|
 |
|
| Oculocerebrorenal syndrome is X-linked recessive | |
| Classification and external resources | |
| ICD-10 | E72.0 |
| ICD-9-CM | 270.8 |
| OMIM | 309000 |
| DiseasesDB | 29146 |
| eMedicine | oph/516 |
| MeSH | D009800 |
| GeneReviews | |
| Orphanet | 534 |
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria, and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium, and sodium).
Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people. Boys with Lowe syndrome are born with cataracts in both eyes, glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, many affected boys develop kidney problems at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine, this problem, is known as Fanconi-type renal tubular dysfunction.
This syndrome is caused by mutations in the OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain.
This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells. About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome
...
Wikipedia