E72.03

Lowe’s syndrome

A sex-linked recessive disorder affecting multiple systems including the eye, the nervous system, and the kidney. Clinical features include congenital cataract; mental retardation; and renal tubular dysfunction fanconi syndrome; renal tubular acidosis; x-linked hypophosphatemia or vitamin-d-resistant rickets) and scoliosis. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in phosphatidylinositol metabolism and inositol signaling pathway. from menkes, textbook of child neurology, 5th ed, p60; am j hum genet 1997 jun;60 6):1384-8)

A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin d-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy.

An x-linked inherited multisystem metabolic disorder caused by mutations in the ocrl1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.

Sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.

E72.03 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E72.03 – other international versions of ICD-10 E72.03 may differ.