MCID: OCL005
MIFTS: 35

Oculocerebrorenal Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Oculocerebrorenal Syndrome

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Aliases & Descriptions for Oculocerebrorenal Syndrome:

Name: Oculocerebrorenal Syndrome 10 45 12 36 65
Lowe Oculocerebrorenal Syndrome 10 45
Lowe Syndrome 10 45
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 45
 
Oculocerebrorenal Syndrome of Lowe 10
Chromosome 11p Deletion Syndrome 65
Ocrl1 45
Ocrl 45

Classifications:



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Disease Ontology10 DOID:1056
ICD1027 E72.03
SNOMED-CT59 79385002
MeSH36 D009800
NCIt42 C84940
UMLS65 C0028860, C0812435

Summaries for Oculocerebrorenal Syndrome

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NIH Rare Diseases:45 Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. affected people may also experience kidney problems (such as fanconi syndrome), infantile glaucoma, impaired vision, developmental delay, intellectual disability, behavioral problems, seizures and short stature. lowe oculocerebrorenal syndrome occurs almost exclusively in males. the condition is caused by changes (mutations) in the ocrl and is inherited in an x-linked recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 3/13/2016

MalaCards based summary: Oculocerebrorenal Syndrome, also known as lowe oculocerebrorenal syndrome, is related to dent disease 2 and lowe syndrome. An important gene associated with Oculocerebrorenal Syndrome is OCRL (Oculocerebrorenal Syndrome Of Lowe), and among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include kidney, eye and skin, and related mouse phenotypes are vision/eye and growth/size/body region.

Wikipedia:68 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Related Diseases for Oculocerebrorenal Syndrome

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Graphical network of the top 20 diseases related to Oculocerebrorenal Syndrome:



Diseases related to oculocerebrorenal syndrome

Symptoms for Oculocerebrorenal Syndrome

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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
1Calcium, DietaryPhase 1, Phase 24678
2potassium phosphatePhase 1, Phase 210
3Phosphorus SupplementNutraceuticalPhase 1, Phase 23
4Hemostatics1082
5Liver Extracts3572

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:

33
Kidney, Eye, Skin, Prostate, Heart, Thyroid, Breast

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6INPP5B, INPP5E, OCRL, SYNJ1
2MP: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 51)
idTitleAuthorsYear
1
Reply to "Granulomatous Mastitis - More data is needed". (26832944)
2016
2
Long-term outcome of critically ill adult patients with acute epiglottitis. (25945804)
2015
3
Diagnostic value of SFRP1 as a favorable predictive and prognostic biomarker in patients with prostate cancer. (25719802)
2015
4
Early stage dementia. (24422846)
2014
5
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype. (24643032)
2014
6
Complications in the endoscopic and endoscopic-assisted treatment of juvenile nasopharyngeal angiofibroma with intracranial extension. (24830969)
2014
7
Expression of IGFBPa896 in proliferative vitreoretinopathy rat models and its effects on retinal pigment epitheliala89J cells. (24220750)
2014
8
Role of mutations in L-type calcium channel genes in Brugada syndrome, early repolarization syndrome, and idiopathic ventricular fibrillation associated with right bundle branch block. (23739544)
2013
9
Whole grains, type 2 diabetes, coronary heart disease, and hypertension: links to the aleurone preferred over indigestible fiber. (23355358)
2013
10
Factors related to outcomes of subthalamic deep brain stimulation in Parkinson's disease. (24175026)
2013
11
Overexpression of microRNAs-155 and 21 targeting mismatch repair proteins in inflammatory bowel diseases. (23288924)
2013
12
Renal cancer in von Hippel-Lindau disease and related syndromes. (23897319)
2013
13
Deficiency in complement factor B. (24152280)
2013
14
Abnormal expression of miR-301a in gastric cancer associated with progression and poor prognosis. (23832550)
2013
15
Misoprostol as a therapeutic option for trigeminal neuralgia in patients with multiple sclerosis. (22925476)
2012
16
The risk of coronary thrombosis with cyclo-oxygenase-2 inhibitors does not vary with polymorphisms in two regions of the cyclo-oxygenase-2 gene. (21371074)
2011
17
Different effect of IgA nephropathy and polycystic kidney disease on arterial stiffness. (21474963)
2011
18
T-plastin (PLS3) gene expression differentiates SAczary syndrome from mycosis fungoides and inflammatory skin diseases and can serve as a biomarker to monitor disease progression. (19995369)
2010
19
Structural basis for broad and potent neutralization of HIV-1 by antibody VRC01. (20616231)
2010
20
Clinical characteristics and long-term outcomes of 35 patients with Wegener's granulomatosis followed up at two rheumatology centers in Lithuania. (20571293)
2010
21
EGFR intron 1 dinucleotide repeat polymorphism is associated with the occurrence of skin rash with gefitinib treatment. (18995924)
2009
22
Silencing of host cell CYBB gene expression by the nuclear effector AnkA of the intracellular pathogen Anaplasma phagocytophilum. (19307214)
2009
23
Inhibition of melanogenesis as a radiation sensitizer for melanoma therapy. (18567001)
2008
24
Soluble tumor necrosis factor (TNF) receptors (sTNF-R1 and -R2) in pregnant women chronically infected with Trypanosoma cruzi and their children. (18337349)
2008
25
Effects of pH and polyanions on the thermal stability of fibroblast growth factor 20. (17397238)
2007
26
Intraventricular cavernous hemangioma at the foramen of Monro: Case report and literature review. (15916846)
2006
27
The temperature arrested intermediate of virus-cell fusion is a functional step in HIV infection. (16725045)
2006
28
TNF-alpha is necessary for induction of coronary artery inflammation and aneurysm formation in an animal model of Kawasaki disease. (16670341)
2006
29
Synthetic progestins used in HRT have different glucocorticoid agonist properties. (16125839)
2005
30
Erythromelalgia. (15654170)
2005
31
United States Food and Drug Administration Drug Approval summary: Gefitinib (ZD1839; Iressa) tablets. (14977817)
2004
32
The roles of orphan nuclear receptors in the development and function of the immune system. (16293208)
2004
33
Homologous and heterologous phosphorylations of human histamine H1 receptor in intact cells. (15599091)
2004
34
Accuracy of hydrogen peroxide enhanced endoanal ultrasonography in assessment of the internal opening of an anal fistula complex. (14628155)
2003
35
Effect of ligands of nuclear hormone receptors on sodium/iodide symporter expression and activity in breast cancer cells. (12846418)
2003
36
Bcl-2 and p53 expression in insular and in well-differentiated thyroid carcinomas with an insular pattern. (11740051)
2001
37
Extensive neuronal localization and neurotrophic function of fibroblast growth factor 8 in the nervous system. (11532426)
2001
38
Treatment of rheumatoid arthritis by immunization with mononuclear white blood cells: results of a preliminary trial. (8882022)
1996
39
Functional reconstitution of the phagocyte NADPH oxidase by transfection of its multiple components in a heterologous system. (7849298)
1995
40
Investigation of the subcellular distribution of the bcl-2 oncoprotein: residence in the nuclear envelope, endoplasmic reticulum, and outer mitochondrial membranes. (8402648)
1993
41
Novel 6-alkoxypurine 2',3'-dideoxynucleosides as inhibitors of the cytopathic effect of the human immunodeficiency virus. (8426365)
1993
42
Neuropeptide degrading enzymes in normal and inflamed human synovium. (8098586)
1993
43
Mixed type of total anomalous pulmonary venous connection with hemi-pulmonary vein atresia. (8267448)
1993
44
Severity of pulmonary asbestosis as classified by International Labour Organisation profusion of irregular opacities in 8749 asbestos-exposed American workers. Those who never smoked compared with those who ever smoked. (1739361)
1992
45
Identification of two new missense mutations (R156C and S291L) in two ADA-SCID patients unusual for response to therapy with partial exchange transfusions. (1284479)
1992
46
Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. (1675129)
1991
47
Platelet activation during thrombolysis and percutaneous transluminal coronary angioplasty in the acute phase of myocardial infarction]. (2151948)
1990
48
Recognition of lumbar disc disease with magnetic resonance imaging. (2998699)
1985
49
Visual and phonological factors in acquired dysgraphia. (3974851)
1985
50
Pentosuria in neuromuscular disorders. (14361708)
1955

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
8.5INPP5E, INPPL1, OCRL, SYNJ1
4
Show member pathways
8.1INPP5E, INPPL1, OCRL, SYNJ1
58.1INPP5B, INPP5E, INPPL1, OCRL, SYNJ1

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:004685610.1INPP5E, INPPL1
2regulation of small GTPase mediated signal transductionGO:00510569.6INPP5B, OCRL
3inositol phosphate metabolic processGO:00436478.4INPP5B, INPPL1, OCRL, SYNJ1
4phospholipid metabolic processGO:00066448.3INPP5E, INPPL1, OCRL, SYNJ1

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044399.6INPP5B, SYNJ1
2hydrolase activityGO:00167879.4INPP5B, INPPL1
3GTPase activator activityGO:00050969.1INPP5B, OCRL, TBC1D10B

Sources for Oculocerebrorenal Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet