MCID: OCL005
MIFTS: 30

Oculocerebrorenal Syndrome malady

Category: Genetic diseases (common)

Aliases & Classifications for Oculocerebrorenal Syndrome

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Aliases & Descriptions for Oculocerebrorenal Syndrome:

Name: Oculocerebrorenal Syndrome 11 13 37 66
Oculocerebrorenal Syndrome of Lowe 11
Chromosome 11p Deletion Syndrome 66
 
Lowe Oculocerebrorenal Syndrome 11
Lowe Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:1056
ICD1028 E72.03
SNOMED-CT60 79385002
MeSH37 D009800
NCIt43 C84940

Summaries for Oculocerebrorenal Syndrome

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Wikipedia:69 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

MalaCards based summary: Oculocerebrorenal Syndrome, also known as oculocerebrorenal syndrome of lowe, is related to lowe syndrome and hypophosphatemic rickets, and has symptoms including constipation An important gene associated with Oculocerebrorenal Syndrome is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase), and among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include kidney and skin, and related mouse phenotype growth/size/body region.

Related Diseases for Oculocerebrorenal Syndrome

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Diseases related to Oculocerebrorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lowe syndrome12.0
2hypophosphatemic rickets10.1INPP5E, OCRL
3cataract10.0
4nephrocalcinosis9.9
5pericoronitis9.9
6arthropathy9.9
7star syndrome9.8INPP5E, OCRL
8early yaws6.8GOLGA5, HYDIN, INPP5B, INPP5E, INPPL1, OCRL

Graphical network of diseases related to Oculocerebrorenal Syndrome:



Diseases related to oculocerebrorenal syndrome

Symptoms for Oculocerebrorenal Syndrome

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UMLS symptoms related to Oculocerebrorenal Syndrome:


constipation

Drugs & Therapeutics for Oculocerebrorenal Syndrome

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Drugs for Oculocerebrorenal Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1potassium phosphatePhase 1, Phase 211

Interventional clinical trials:

idNameStatusNCT IDPhase
1Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
2Genetic Analysis of Oculocerebrorenal Syndrome of LoweCompletedNCT00359515
3Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
4Dent Disease Mutation GenotypingCompletedNCT01783795
5Prospective Research Rare Kidney Stones (ProRKS)RecruitingNCT02780297
6Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

Search NIH Clinical Center for Oculocerebrorenal Syndrome


Cochrane evidence based reviews: oculocerebrorenal syndrome

Genetic Tests for Oculocerebrorenal Syndrome

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Anatomical Context for Oculocerebrorenal Syndrome

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MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

34
Kidney, Skin

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6HYDIN, INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

Publications for Oculocerebrorenal Syndrome

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Articles related to Oculocerebrorenal Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
The oculocerebrorenal syndrome of Lowe: an update. (27011217)
2016
2
Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe. (25426219)
2014
3
Whata89s your diagnosis? Infantile glaucoma. . .and discoid cataracts. Oculocerebrorenal syndrome of Lowe. (25062135)
2014
4
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
5
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
6
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
7
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
8
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
9
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
10
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
11
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
12
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
13
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
14
Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (10767176)
2000
15
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
16
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
17
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
18
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
19
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
1995
20
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
21
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
22
Lesions in oculocerebrorenal syndrome. (7847233)
1994
23
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
24
MR findings in oculocerebrorenal syndrome. (8456727)
1993
25
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
26
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
27
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
28
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
29
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
30
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
31
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
32
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
33
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
34
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
35
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (2081601)
1990
36
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. (2912070)
1989
37
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (2895982)
1988
38
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (2878939)
1987
39
Oculocerebrorenal syndrome: case report with CT and MR correlates. (3111218)
1987
40
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. (3958170)
1986
41
Mitochondrial defects in Lowe's oculocerebrorenal syndrome. (6691827)
1984
42
Arthropathy of Lowe's (oculocerebrorenal) syndrome. (6860374)
1983
43
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
44
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
45
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
46
Oculocerebrorenal syndrome. (Lowe syndrome). (4639225)
1972
47
Renal function and morphology in a girl with oculocerebrorenal syndrome. (5450274)
1970
48
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. (5763831)
1969
49
Oculocerebrorenal syndrome of Lowe. A case report. (6022734)
1967
50
Oculocerebrorenal syndrome in a female child. (4951545)
1967

Variations for Oculocerebrorenal Syndrome

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Expression for genes affiliated with Oculocerebrorenal Syndrome

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Search GEO for disease gene expression data for Oculocerebrorenal Syndrome.

Pathways for genes affiliated with Oculocerebrorenal Syndrome

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Pathways related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6INPP5E, INPPL1, OCRL, SYNJ1
2
Show member pathways
8.6INPP5E, INPPL1, OCRL, SYNJ1
3
Show member pathways
8.5INPP5B, INPPL1, OCRL, SYNJ1
4
Show member pathways
8.1INPP5B, INPP5E, INPPL1, OCRL, SYNJ1
58.1INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

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Cellular components related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1early endosome membraneGO:003190110.1INPP5B, OCRL
2phagocytic vesicle membraneGO:003067010.0INPP5B, OCRL
3cytosolGO:00058297.7INPP5B, INPP5E, INPPL1, OCRL, SYNJ1, TBC1D10B

Biological processes related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inositol phosphate dephosphorylationGO:00468559.9INPP5E, SYNJ1
2phosphatidylinositol metabolic processGO:00464889.5INPP5E, SYNJ1
3regulation of GTPase activityGO:00430879.4OCRL, TBC1D10B
4phosphatidylinositol biosynthetic processGO:00066618.8INPP5E, INPPL1, OCRL, SYNJ1
5inositol phosphate metabolic processGO:00436478.7INPP5B, INPPL1, OCRL, SYNJ1
6phosphatidylinositol dephosphorylationGO:00468568.4INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

Molecular functions related to Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inositol-1,4,5-trisphosphate 5-phosphatase activityGO:00526589.6INPP5B, OCRL, SYNJ1
2Rab GTPase bindingGO:00171379.4GOLGA5, TBC1D10B
3SH3 domain bindingGO:00171249.3INPPL1, SYNJ1
4phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044399.2INPP5B, INPP5E, OCRL, SYNJ1
5inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:00526599.1INPP5B, INPPL1, OCRL, SYNJ1
6GTPase activator activityGO:00050968.9INPP5B, OCRL, TBC1D10B

Sources for Oculocerebrorenal Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet