MCID: OCL005
MIFTS: 39

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 lowe syndrome and dent disease, and has symptoms including constipation 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 heart, 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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Diseases related to Oculocerebrorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lowe syndrome12.0
2dent disease10.7
3nephrolithiasis, type i10.1INPP5E, OCRL
4cataract10.0
5nephrocalcinosis9.9
6pericoronitis9.9
7arthropathy9.9
8fragile x syndrome9.8INPP5E, OCRL
9late 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
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, Heart, Liver, Breast, Skin, Prostate

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 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
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. (7869519)
1995
20
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
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
A new variant of Lowe oculocerebrorenal syndrome. (7256724)
1980
44
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
45
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
46
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
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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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