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Lowe syndrome

Synonyms
Lowe oculocerebrorenal syndrome; Oculocerebrorenal Syndrome; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Lowe Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Richard Alan Lewis
Robert L Nussbaum
Eileen D Brewer
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Available tests

71 tests are in the database for this condition.

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Clinical tests (70 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: DENT2, Dent-2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, OCRL
    Summary: OCRL inositol polyphosphate-5-phosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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