X-linked disorder with congenital cataracts, intellectual disability and renal Fanconi syndrome.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Tubular disorders
- Sex & age distribution
- Male: affected; Female: carriers lens opacities; Children: yes, birth
- Gene(s) involved
- OCRL
- Alternative names & eponyms
- Oculocerebrorenal syndrome of Lowe
Etiology & mechanism
OCRL deficiency affects phosphatidylinositol metabolism.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Lowe syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
4 shared
Marinesco–Sjögren syndrome
congenital cataracts, hypotonia, intellectual disability, short stature
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability, short stature
2 shared
Coffin–Lowry syndrome
intellectual disability, short stature
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Cohen syndrome
hypotonia, intellectual disability
2 shared
Costello syndrome
intellectual disability, short stature
2 shared
Cri du chat syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
Shares genes with
None.
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