| OCULOCEREBRORENAL SYNDROME OF LOWE | |
| LOWE OCULOCEREBRORENAL SYNDROME | |
|
309000
OMIM = Online Mendelian Inheritance of Men | |
|
534 | |
| Inositol polyphosphate 5-phosphatase OCRL-1 | |
| 3.1.3.36 | |
| rare X-linked recessive mutation in the OCRL gene cataract at birth, tubular manifestation 3-6 months | |
| Laboratory findings | alpha-Fetoprotein inc (amniotic fluid) Cholesterol inc (serum) Creatine kinase inc (serum) Lactate dehydrogenase (LDH) inc (serum) Phosphate dec (serum) Phosphate inc (urine) Protein inc (urine) Protein, total inc (serum) Serum acid phosphatase inc (serum) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | behavior, aggressive cataract Amino acids, urine aminoaciduria areflexia behavior, abnormal or bizarre, confusion bone fractures buphthalmus cerebral atrophy constipation cryptorchism developmental delay EEG abnormalities [-] failure to thrive Fanconi syndrome glaucoma hypotonia impaired visual acuity joint swelling mental retardation metabolic acidosis microphthalmus MRI, brain, abnormalities [-] onset, childhood onset, fetus onset, infancy onset, neonatal proteinuria renal failure, acute/chronic rickets seizures short stature |