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Condition report · Urological

Dent Disease and Lowe Syndrome

Related X-linked conditions that mainly affect males, causing loss of protein and calcium in the urine, kidney stones and gradual kidney damage. Lowe syndrome also affects the eyes and brain.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Dent Disease

X-linked recessive

An X-linked kidney tubule disorder caused by variants in CLCN5 or OCRL, with low-molecular-weight proteinuria, high urine calcium, kidney stones and progressive chronic kidney disease in males.

What a diagnosis changes

Knowing allows monitoring and measures to reduce urine calcium and slow kidney damage, and testing of female relatives who may be carriers.

Genes analysed

Also known as

Dent disease 1; Dent disease 2; Dent syndrome; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; renal Fanconi syndrome with nephrocalcinosis and renal stones; X-linked recessive hypercalciuric hypophosphatemic rickets; X-linked recessive hypophosphatemic rickets; X-linked recessive nephrolithiasis

Includes 2 related subtypes ↓
  • Dent disease type 1
  • Dent disease type 2
MONDO:0015612Orphanet 1652MedGen 168056

Lowe Syndrome (Oculocerebrorenal Syndrome)

X-linked recessive

An X-linked condition caused by OCRL variants, with congenital cataracts, developmental delay and kidney tubule dysfunction in males.

What a diagnosis changes

Knowing guides eye, developmental and kidney care, and carrier females can be offered an eye examination.

Genes analysed

Also known as

Lowe disease; Lowe oculo-cerebro-renal syndrome; Lowe oculocerebrorenal syndrome; Lowe syndrome; Lowe syndrome, X-linked recessive; OCR; OCRL; oculo-cerebro-renal dystrophy; oculo-cerebro-renal syndrome; oculocerebrorenal dystrophy; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency

MONDO:0010645OMIM 309000Orphanet 534MedGen 18145

Other urological conditions

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