Oculocerebrorenal syndrome: Difference between revisions

Oculocerebrorenal syndrome
Oculocerebrorenal syndrome
Other names	Lowe syndrome
	Infant with oculocerebrorenal syndrome
Specialty	Obstetrics and gynaecology, urology, neurology, medical genetics, endocrinology
Symptoms	Cataracts
Causes	Mutations in OCRL gene
Diagnostic method	MRI, urinalysis
Treatment	Physical therapy, clomipramine

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Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss^[4]).^[5]^[6]

Signs and symptoms

Boys with Lowe syndrome are born with cataracts in both eyes; glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age.^[1] Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction.^{[medical citation needed]}

Genetics

This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain.^[7]^[8]

This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.^[8] About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome^[9]

Fibroblasts
X-link recessive inheritance

Diagnosis

Diagnosis of oculocerebrorenal syndrome can be done via genetic testing^[10] Among the different investigations that can de done are:^[2]

Treatment

In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:^[3]

Epidemiology

Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.^[11]

History

It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012)^[12]^[13] and colleagues at the Massachusetts General Hospital in Boston.^[14] Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.^[1]

References

^ ^a ^b ^c ^d "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology". 2016-06-01. {{cite journal}}: Cite journal requires |journal= (help)
^ ^a ^b "Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient". Patient. Retrieved 21 December 2016.
^ ^a ^b RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-12-21.
^ Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). "Lowe Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301653.update 2012
^ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Retrieved 21 December 2016.
^ Hagemann, Nina; Hou, Xiaomin; Goody, Roger S.; Itzen, Aymelt; Erdmann, Kai S. (2017-06-01). "Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome". Small GTPases. 3 (2): 107–110. doi:10.4161/sgtp.19380. ISSN 2154-1256. PMID 22790198.
^ ^a ^b Reference, Genetics Home. "Lowe syndrome". Genetics Home Reference. Retrieved 21 December 2016.
^ Reference, Genetics Home. "OCRL gene". Genetics Home Reference. Retrieved 21 December 2016.
^ "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016.
^ Loi M (2006). "Lowe Syndrome". Orphanet Journal of Rare Diseases. 1: 16. doi:10.1186/1750-1172-1-16. PMC 1526415. PMID 16722554.
^ Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. ISBN 9780313387142. Retrieved 21 December 2016.
^ Loring, David W.; Bowden, Stephen (2015). INS Dictionary of Neuropsychology and Clinical Neurosciences. Oxford University Press, Incorporated. ISBN 9780195366457. Retrieved 21 December 2016.
^ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". American Journal of Diseases of Children. 83 (2): 164–84. doi:10.1001/archpedi.1952.02040060030004. PMID 14884753.

External links

Scholia has a topic profile for Oculocerebrorenal syndrome.

[emed-1] "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology". 2016-06-01. {{cite journal}}: Cite journal requires |journal= (help)

[lowe-2] "Lowe's (Oculo-Cerebro-Renal) Syndrome | Doctor | Patient". Patient. Retrieved 21 December 2016.

[orp-3] RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016.{{cite web}}: CS1 maint: numeric names: authors list (link)

[4] "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-12-21.

[5] Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). "Lowe Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301653.update 2012

[6] "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Retrieved 21 December 2016.

[7] Hagemann, Nina; Hou, Xiaomin; Goody, Roger S.; Itzen, Aymelt; Erdmann, Kai S. (2017-06-01). "Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome". Small GTPases. 3 (2): 107–110. doi:10.4161/sgtp.19380. ISSN 2154-1256. PMID 22790198.

[nih-8] Reference, Genetics Home. "Lowe syndrome". Genetics Home Reference. Retrieved 21 December 2016.

[9] Reference, Genetics Home. "OCRL gene". Genetics Home Reference. Retrieved 21 December 2016.

[10] "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016.

[11] Loi M (2006). "Lowe Syndrome". Orphanet Journal of Rare Diseases. 1: 16. doi:10.1186/1750-1172-1-16. PMC 1526415. PMID 16722554.

[12] Kelly, Evelyn B. (2013). Encyclopedia of human genetics and disease. Santa Barbara, Calif.: Greenwood. ISBN 9780313387142. Retrieved 21 December 2016.

[13] Loring, David W.; Bowden, Stephen (2015). INS Dictionary of Neuropsychology and Clinical Neurosciences. Oxford University Press, Incorporated. ISBN 9780195366457. Retrieved 21 December 2016.

[14] Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". American Journal of Diseases of Children. 83 (2): 164–84. doi:10.1001/archpedi.1952.02040060030004. PMID 14884753.

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@@ Line 1: / Line 1: @@
 {{Infobox medical condition (new)
-| name            = Oculocerebrorenal syndrome
+| name = Oculocerebrorenal syndrome
-| synonyms        = Lowe syndrome
+| synonyms = Lowe syndrome
-| image           = File:X-linked recessive.svg
+| image = Oculo-Cerebro-Renal Syndrome 2.jpg
-| caption         = Oculocerebrorenal syndrome is X-linked recessive
+| caption = Infant with oculocerebrorenal syndrome
-| pronounce       =
+| pronounce =
-| field           =
+| field =
-| symptoms        =
+| symptoms = Cataracts<ref name=emed/>
-| complications   =
+| complications =
-| onset           =
+| onset =
-| duration        =
+| duration =
+| types =
+| causes = Mutations in ''[[OCRL]] ''gene<ref name=emed/>
-| types           =
+| risks =
-| causes          =
+| diagnosis = MRI, [[urinalysis]]<ref name=lowe/>
-| risks           =
+| differential =
-| diagnosis       = MRI, Urinalysis
+| prevention =
-| differential    =
+| treatment = Physical therapy, [[clomipramine]]<ref name=orp/>
-| prevention      =
+| medication =
-| treatment       =
+| prognosis =
-| medication      =
+| frequency =
-| prognosis       =
+| deaths =
-| frequency       =
-| deaths          =
 }}
-'''Oculocerebrorenal syndrome''' (also called '''Lowe syndrome''') is a rare [[X-linked]] recessive disorder characterized by congenital cataracts, hypotonia, [[intellectual disability]], proximal tubular acidosis, [[aminoaciduria]], and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of [[Fanconi syndrome]] (bicarbonaturia, [[renal]] tubular acidosis, [[potassium]] loss, and sodium loss<ref>{{Cite web|url=https://medlineplus.gov/ency/article/000333.htm|title=Fanconi syndrome: MedlinePlus Medical Encyclopedia|website=medlineplus.gov|access-date=2016-12-21}}</ref>).<ref>{{Cite book|url=https://www.ncbi.nlm.nih.gov/books/NBK1480/|title=GeneReviews(®)|last=Lewis|first=Richard Alan|last2=Nussbaum|first2=Robert L.|last3=Brewer|first3=Eileen D.|date=1993-01-01|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=20301653|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora JH|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Fong|editor-first8=Chin-To|editor-last9=Mefford|editor-first9=Heather C.}}update 2012</ref><ref>{{cite web|title=OMIM Entry             - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL|url=https://omim.org/entry/309000|website=omim.org|accessdate=21 December 2016}}</ref>
+'''Oculocerebrorenal syndrome''' (also called '''Lowe syndrome''') is a rare [[X-linked]] recessive disorder characterized by congenital cataracts, [[hypotonia]], [[intellectual disability]], [[proximal tubular]] [[acidosis]], [[aminoaciduria]] and low-molecular-weight [[proteinuria]]. Lowe syndrome can be considered a cause of [[Fanconi syndrome]] (bicarbonaturia, renal tubular acidosis, [[potassium]] loss and [[sodium]] loss<ref>{{Cite web|url=https://medlineplus.gov/ency/article/000333.htm|title=Fanconi syndrome: MedlinePlus Medical Encyclopedia|website=medlineplus.gov|access-date=2016-12-21}}</ref>).<ref>{{Cite book|chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1480/|title=GeneReviews|last1=Lewis|first1=Richard Alan|last2=Nussbaum|first2=Robert L.|last3=Brewer|first3=Eileen D.|date=1993-01-01|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=20301653|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora J.H.|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Fong|editor-first8=Chin-To|editor-last9=Mefford|editor-first9=Heather C.|chapter=Lowe Syndrome}}update 2012</ref><ref>{{cite web|title=OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL|url=https://omim.org/entry/309000|website=omim.org|access-date=21 December 2016}}</ref>
 ==Signs and symptoms==
-Because oculocerebrorenal syndrome is an [[X-linked recessive inheritance|X-linked recessive]] condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease;  it has an estimated prevalence of 1 in 500,000 people.<ref>{{cite journal | author = Loi M | year = 2006 | title = Lowe Syndrome | url = | journal = Orphanet Journal of Rare Diseases | volume = 1 | issue = | page = 16 | doi=10.1186/1750-1172-1-16}}</ref> Boys with Lowe syndrome are born with [[cataracts]] in both eyes, glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, many affected boys develop [[kidney]] problems at about one year of age.<ref name="emed">{{Cite journal|date=2016-06-01|title=Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/1214184-overview}}</ref> Renal pathology is characterized by an abnormal loss of certain substances into the [[urine]], including bicarbonate, [[sodium]], [[potassium]], [[amino acids]], organic acids, albumin, [[calcium]] and L-carnitine, this problem, is known as Fanconi-type renal tubular dysfunction.{{medical citation needed|date=December 2016}}
+Boys with Lowe syndrome are born with [[cataracts]] in both eyes; [[glaucoma]] is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age.<ref name="emed">{{Cite journal|date=2016-06-01|title=Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology|url=http://emedicine.medscape.com/article/1214184-overview}}</ref> Renal pathology is characterized by an abnormal loss of certain substances into the [[urine]], including [[bicarbonate]], [[sodium]], [[potassium]], [[amino acids]], [[organic acids]], [[albumin]], [[calcium]] and [[L-carnitine]]. This problem is known as Fanconi-type renal tubular dysfunction.{{medical citation needed|date=December 2016}}
 ==Genetics==
+This syndrome is caused by mutations in the ''[[OCRL]]'' gene which encodes an [[inositol polyphosphate-5-phosphatase]]. At least one mechanism by which these mutations cause this syndrome is by loss of its [[Rab (G-protein)|Rab]]-binding [[Protein domain|domain]].<ref>{{Cite journal|last1=Hagemann|first1=Nina|last2=Hou|first2=Xiaomin|last3=Goody|first3=Roger S.|last4=Itzen|first4=Aymelt|last5=Erdmann|first5=Kai S.|date=2017-06-01|title=Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome|journal=Small GTPases|volume=3|issue=2|pages=107–110|doi=10.4161/sgtp.19380|issn=2154-1256|pmid=22790198|doi-access=free}}</ref><ref name="nih">{{cite web|last1=Reference|first1=Genetics Home|title=Lowe syndrome|url=https://ghr.nlm.nih.gov/condition/lowe-syndrome|website=Genetics Home Reference|access-date=21 December 2016}}</ref>
-[[File:NIH 3T3.jpg|thumb|Fibroblasts]]
-This syndrome is caused by mutations in the OCRL1 gene which encodes a [[inositol polyphosphate-5-phosphatase]]. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain.<ref>{{Cite journal|last=Hagemann|first=Nina|last2=Hou|first2=Xiaomin|last3=Goody|first3=Roger S.|last4=Itzen|first4=Aymelt|last5=Erdmann|first5=Kai S.|date=2017-06-01|title=Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome|journal=Small GTPases|volume=3|issue=2|pages=107–110|doi=10.4161/sgtp.19380|issn=2154-1256|pmid=22790198}}</ref><ref name="nih">{{cite web|last1=Reference|first1=Genetics Home|title=Lowe syndrome|url=https://ghr.nlm.nih.gov/condition/lowe-syndrome|website=Genetics Home Reference|accessdate=21 December 2016}}</ref>
-This protein is associated with the primary [[cilium|cilia]] of the [[retinal]] pigment epithelial cells, [[fibroblast]]s and [[kidney]] tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.<ref name=nih/> About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome<ref>{{cite web|last1=Reference|first1=Genetics Home|title=OCRL gene|url=https://ghr.nlm.nih.gov/gene/OCRL#conditions|website=Genetics Home Reference|accessdate=21 December 2016}}</ref>
+This protein is associated with the primary [[cilia]] of the [[retinal pigment epithelial]] cells, [[fibroblast]]s and kidney [[Nephron|tubular]] cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.<ref name=nih/> About 120 mutations are associated with this condition and ''OCRL'' gene which is associated with oculocerebrorenal syndrome<ref>{{cite web|last1=Reference|first1=Genetics Home|title=OCRL gene|url=https://ghr.nlm.nih.gov/gene/OCRL#conditions|website=Genetics Home Reference|access-date=21 December 2016}}</ref>
+<gallery mode="packed" widths="360px" heights="220">
+File:NIH 3T3.jpg|Fibroblasts
+File:X-linked recessive.svg|X-link recessive inheritance
+</gallery>
 ==Diagnosis==
-Diagnosis of oculocerebrorenal syndrome can be done via [[genetic testing]]<ref>{{cite web|title=Lowe syndrome - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0028860/|website=www.ncbi.nlm.nih.gov|accessdate=21 December 2016}}</ref> Among the different investigations that can de done are:<ref>{{cite web|title=Lowe's (Oculo-Cerebro-Renal) Syndrome {{!}} Doctor {{!}} Patient|url=http://patient.info/doctor/lowe-(oculo-cerebro-renal)-syndrome.htm|website=Patient|accessdate=21 December 2016}}</ref>
+Diagnosis of oculocerebrorenal syndrome can be done via [[genetic testing]]<ref>{{cite web|title=Lowe syndrome - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0028860/|website=www.ncbi.nlm.nih.gov|access-date=21 December 2016}}</ref> Among the different investigations that can de done are:<ref name="lowe">{{cite web|title=Lowe's (Oculo-Cerebro-Renal) Syndrome {{!}} Doctor {{!}} Patient|url=http://patient.info/doctor/lowe-(oculo-cerebro-renal)-syndrome.htm|website=Patient|access-date=21 December 2016}}</ref>
-*[[Urinalysis]]
+* [[Urinalysis]]
-*[[MRI]]
+* [[MRI]]
-*[[Blood]] test
+* [[Blood]] test
 ==Treatment==
-[[File:Potassium citrate structure.svg|thumb|150 px|Potassium citrate]]
+[[File:Potassium citrate structure.svg|thumb|250 px|[[Potassium citrate]]]]
-In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:<ref>{{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Oculocerebrorenal syndrome of Lowe|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=534|website=www.orpha.net|accessdate=21 December 2016}}</ref>
+In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:<ref name="orp">{{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Oculocerebrorenal syndrome of Lowe|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=534|website=www.orpha.net|access-date=21 December 2016}}</ref>
+* [[Glaucoma]] control (via medication)
+* [[Nasogastric tube]] feeding
+* [[Physical therapy]]
+* [[Clomipramine]]
+* [[Potassium citrate]]
+==Epidemiology==
-*[[Glaucoma]] control (via medication)
+Because oculocerebrorenal syndrome is an [[X-linked recessive]] condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.<ref>{{cite journal | author = Loi M | year = 2006 | title = Lowe Syndrome | journal = Orphanet Journal of Rare Diseases | volume = 1 | page = 16 | doi=10.1186/1750-1172-1-16| pmid = 16722554 | pmc = 1526415 | doi-access = free }}</ref>
-*[[Nasogastric tube]] feeding
-*[[Physical therapy]]
-*[[Clomipramine]]
-*[[Potassium citrate]]
 ==History==
-It was first described in 1952 by Charles Lowe and colleagues at the [[Massachusetts General Hospital]] in Boston.<ref>{{cite journal |vauthors =Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=AMA American Journal of Diseases of Children |volume=83 |issue=2 |pages=164–84 |year=1952 |pmid=14884753 |doi=10.1001/archpedi.1952.02040060030004}}</ref> Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.<ref name=emed/>
+It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012)<ref>{{cite book|last1=Kelly|first1=Evelyn B.|title=Encyclopedia of human genetics and disease|date=2013|publisher=Greenwood|location=Santa Barbara, Calif.|isbn=9780313387142|url=https://books.google.com/books?id=SjfKybobUIYC&q=Charles+Upton+Lowe+Oculocerebrorenal+syndrome&pg=PA498|access-date=21 December 2016|language=en}}</ref><ref>{{cite book|last1=Loring|first1=David W.|last2=Bowden|first2=Stephen|title=INS Dictionary of Neuropsychology and Clinical Neurosciences|date=2015|publisher=Oxford University Press, Incorporated|isbn=9780195366457|url=https://books.google.com/books?id=Vi5mBgAAQBAJ&q=Charles+Upton+Lowe+named+for+Lowe++syndrome&pg=PA268|access-date=21 December 2016|language=en}}</ref> and colleagues at the [[Massachusetts General Hospital]] in Boston.<ref>{{cite journal |vauthors =Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=American Journal of Diseases of Children |volume=83 |issue=2 |pages=164–84 |year=1952 |pmid=14884753 |doi=10.1001/archpedi.1952.02040060030004}}</ref> Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.<ref name=emed/>
-===Eponym===
-The condition is named after [[Charles Upton Lowe]] (August 24, 1921 – February 9, 2012 ).<ref>{{cite book|last1=Kelly|first1=Evelyn B.|title=Encyclopedia of human genetics and disease|date=2013|publisher=Greenwood|location=Santa Barbara, Calif.|isbn=9780313387142|url=https://books.google.com/books?id=SjfKybobUIYC&pg=PA498&lpg=PA498&dq=Charles+Upton+Lowe+Oculocerebrorenal+syndrome&source=bl&ots=V0Au-WvOHv&sig=YISUMLV6c7FI2mG0Ab4ilxpzqKA&hl=en&sa=X&ved=0ahUKEwiE-MHr4oXRAhVY-2MKHYCuATwQ6AEIOzAG#v=onepage&q=Charles%20Upton%20Lowe%20Oculocerebrorenal%20syndrome&f=false|accessdate=21 December 2016|language=en}}</ref><ref>{{cite book|last1=Loring|first1=David W.|last2=Bowden|first2=Stephen|title=INS Dictionary of Neuropsychology and Clinical Neurosciences|date=2015|publisher=Oxford University Press, Incorporated|isbn=9780195366457|url=https://books.google.com/books?id=Vi5mBgAAQBAJ&pg=PA268&dq=Charles+Upton+Lowe+named+for+Lowe++syndrome&hl=en&sa=X&ved=0ahUKEwjQhemu44XRAhVI7CYKHbgbDe0Q6AEIIDAB#v=onepage&q=Charles%20Upton%20Lowe%20named%20for%20Lowe%20%20syndrome&f=false|accessdate=21 December 2016|language=en}}</ref>
 ==See also==
-*[[List of congenital disorders]]
+* [[List of congenital disorders]]
 ==References==
@@ Line 62: / Line 64: @@
 ==Further reading==
-*{{cite journal|last1=Bökenkamp|first1=Arend|last2=Ludwig|first2=Michael|title=The oculocerebrorenal syndrome of Lowe: an update|journal=Pediatric Nephrology (Berlin, Germany)|date=1 January 2016|volume=31|issue=12|pages=2201–2212|doi=10.1007/s00467-016-3343-3|pmc=5118406|issn=0931-041X}}
+* {{cite journal|last1=Bökenkamp|first1=Arend|last2=Ludwig|first2=Michael|title=The oculocerebrorenal syndrome of Lowe: an update|journal=Pediatric Nephrology (Berlin, Germany)|date=1 January 2016|volume=31|issue=12|pages=2201–2212|doi=10.1007/s00467-016-3343-3|pmc=5118406|issn=0931-041X|pmid=27011217}}
 == External links ==
 {{Medical resources
 |  DiseasesDB      = 29146
 |  ICD10           = {{ICD10|E|72|0|e|70}}
 |  ICD9            = {{ICD9|270.8}}
 |  ICDO            =
 |  OMIM            = 309000
 |  MedlinePlus     =
 |  eMedicineSubj   = oph
 |  eMedicineTopic  = 516
 |  MeshID          = D009800
 |  GeneReviewsNBK  = NBK1480
 |  GeneReviewsName = Lowe Syndrome
 | Orphanet=534
 }}
+{{Scholia|topic}}
 {{Amino acid metabolic pathology}}
 {{X-linked disorders}}
+{{Authority control}}
 [[Category:Amino acid metabolism disorders]]
 [[Category:X-linked recessive disorders]]
-[[Category:Syndromes affecting the eyes]]
+[[Category:Syndromes affecting the eye]]
 [[Category:Syndromes affecting the kidneys]]

Classification	D ICD-10: E72.0 ICD-9-CM: 270.8 OMIM: 309000 MeSH: D009800 DiseasesDB: 29146
External resources	eMedicine: oph/516 GeneReviews: Lowe Syndrome Orphanet: 534