OCR
MCID: OCL005
MIFTS: 69

Oculocerebrorenal Syndrome (OCR) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Fetal diseases categories

Summaries for Oculocerebrorenal Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

MalaCards: Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent's disease and cystinuria, and has symptoms including anophthalmos/anophthalmia/microphthalmos/microphthalmia, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and hypercalciuria. An important gene associated with Oculocerebrorenal Syndrome is OCRL (oculocerebrorenal syndrome of Lowe), and among its related pathways are Phosphatases and Inositol phosphate metabolism. The compounds Inositol 1,3,4-trisphosphate and 1D-Myo-inositol 1,4-bisphosphate have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and eye, and related mouse phenotypes are craniofacial and growth/size/body.

Wikipedia:66 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Description from OMIM:48 309000

GeneReviews summary for lowe

Aliases & Classifications for Oculocerebrorenal Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 50Orphanet, 63UMLS, 10diseasecard, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 41NCIt, 36MeSH, 59SNOMED-CT, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
lowe syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

oculocerebrorenal syndrome 9 20 44 22 11 50 63
lowe syndrome 9 10 20 44 21 23 22 48 46 50
oculocerebrorenal syndrome of lowe 9 20 22
lowe oculocerebrorenal syndrome 9 44 22
ocrl 44 50
phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency 44
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency 22
phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency 50
lowe oculo-cerebro-renal syndrome 50
chromosome 11p deletion syndrome 63
oculo-cerebro-renal dystrophy 50
oculo-cerebro-renal syndrome 50
oculocerebrorenal dystrophy 50
cerebrooculorenal syndrome 22
lowe disease 50
ocrl1 44
ocr 50


External Ids:

Disease Ontology9 DOID:1056
OMIM48 309000
NCIt41 C84940
MeSH36 D009800
SNOMED-CT59 79385002
ICD10 via Orphanet27 E72.0
SNOMED-CT via Orphanet60 79385002
UMLS via Orphanet64 C0028860
MESH via Orphanet37 D009800

Related Diseases for Oculocerebrorenal Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

309000

Clinical features from OMIM:

309000

Symptoms:

50 (show all 122)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hypercalciuria
  • metabolic decompensation
  • strabismus/squint
  • rib structure anomalies
  • glaucoma
  • polycystic kidneys
  • obsessive-compulsive disorder
  • defect/anomaly of lacrimal system
  • dental cysts/tumors
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • dilated cerebral ventricles without hydrocephaly
  • renal glomerular defect/glomerulopathy
  • prominent/bat ears
  • mutiple fractures/bone fragility
  • protruding lips
  • oral mucosa disease/cheilitis
  • gingivitis
  • hematuria/microhematuria
  • x-linked recessive inheritance
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal scarring/cheloids/hypertrophic scars
  • thrombocytopenia/thrombopenia
  • areflexia/hyporeflexia
  • early death in adulthood
  • mouth held open
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • long face
  • retinal/chorioretinal dysplasia/dystrophy
  • thin/retracted lips
  • philtrum deeply grooved
  • taurodontia
  • anodontia/oligodontia/hypodontia
  • alveolysis/paraodontitis
  • renal/kidney calcifications/nephrocalcinosis
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • azoospermia/oligospermia/asthenospermia
  • hyperaldosteronism
  • hypoammonemia
  • oligosacchariduria
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • benign tumor of the brain/nervous system
  • enamel anomaly
  • fine hair
  • patella dislocation
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • hyponatremia
  • deepset eyes/enophthalmos
  • buphthalmos
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • skin tumors/lumps/epidermal cysts
  • hyperparathyroidy
  • phosphocalcic metabolism anomalies
  • vitamin d deficiency
  • atelectasia/pulmonary collapse
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • frontal bossing/prominent forehead
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • auto-aggressivity/auto-mutilation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • dental malocclusion
  • chronic/relapsing otitis
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • prognathism/prognathia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • repeat respiratory infections
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • low set ears/posteriorly rotated ears
  • genu valgum
  • epiphyseal anomaly
  • scoliosis
  • eeg anomalies
  • myoclonus/fasciculations
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • nystagmus
  • kyphosis
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • constipation
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • arthritis/synovitis/synovial proliferation
  • umbilical hernia
  • renal failure
  • hydrarthrosis/articular/joint effusion
  • abnormal cry/voice/phonation disorder/nasal speech
  • brachycephaly/flat occiput
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • broad cheeks/cherub-like/cherubin face
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anaemia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • metaphyseal anomaly
  • dentine anomaly
  • platyspondyly
  • dehydration/hydroelectrolytic loss
  • aminoacid metabolism anomalies/aminoaciduria
  • anomalies of teeth and dentition
  • multiple caries
  • malabsorption/chronic diarrhea/steatorrhea
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • visual loss/blindness/amblyopia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • renal tubular defect/tubulopathy
  • proteinuria
  • diabetes insipidus
  • late puberty/hypogonadism/hypogenitalism
  • tics/stereotypias
  • hypokalemia
  • hypophosphatemia
  • hyperextensible joints/articular hyperlaxity

Drugs & Therapeutics for Oculocerebrorenal Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Oculocerebrorenal Syndrome

Drug clinical trials:

Search ClinicalTrials for Oculocerebrorenal Syndrome

Search NIH Clinical Center for Oculocerebrorenal Syndrome

Search CenterWatch for Oculocerebrorenal Syndrome

Genetic Tests for Oculocerebrorenal Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Oculocerebrorenal Syndrome:

id Genetic test Affiliating Genes
1 Lowe Syndrome21 23 OCRL

Anatomical Context for Oculocerebrorenal Syndrome

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34MalaCards
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MalaCards organs/tissues related to Oculocerebrorenal Syndrome:

34
Skin, Kidney, Eye, Testes, Lung, Bone, Brain

Animal Models for Oculocerebrorenal Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Oculocerebrorenal Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2HYDIN, ASPM, CLCN5, INPPL1, INPP5E
2MP:00053787.4ASPM, SYNJ1, OCRL, INPP5K, INPPL1, INPP5D
3MP:00107686.9HYDIN, PI4K2A, SYNJ1, OCRL, INPP5K, INPPL1

Publications for Oculocerebrorenal Syndrome

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53PubMed
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Articles related to Oculocerebrorenal Syndrome:

(show all 48)
idTitleAuthorsYear
1
Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe. (24217083)
2013
2
Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (23805271)
2013
3
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe. (23549725)
2013
4
Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. (22351770)
2012
5
Oral anomalies associated with the oculocerebrorenal syndrome of Lowe: case report with multiple unerupted teeth and pericoronal radiolucencies. (19217010)
2009
6
Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life. (19547830)
2009
7
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. (17621522)
2007
8
Glaucoma with the oculocerebrorenal syndrome of Lowe. (15870597)
2005
9
What's your diagnosis? Oculocerebrorenal syndrome of Lowe. (16250214)
2005
10
Cataracts and glaucoma in patients with oculocerebrorenal syndrome. (12963605)
2003
11
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
12
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (9632163)
1998
13
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (9199559)
1997
14
Two families of Lowe oculocerebrorenal syndrome with elevated serum HDL cholesterol levels and CETP gene mutation. (9116424)
1997
15
MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. (8703232)
1996
16
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. (8599350)
1995
17
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (7573041)
1995
18
Lesions in oculocerebrorenal syndrome. (7847233)
1994
19
Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. (7516514)
1994
20
MR findings in oculocerebrorenal syndrome. (8456727)
1993
21
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (8504307)
1993
22
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. (8488875)
1993
23
The oculocerebrorenal syndrome of Lowe. (8325732)
1993
24
Radiological cases of the month. Lowe (oculocerebrorenal) syndrome. (1384308)
1992
25
Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. (1594319)
1992
26
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (1321346)
1992
27
The oculocerebrorenal syndrome of Lowe. (1927708)
1991
28
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. (2017228)
1991
29
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. (2028753)
1991
30
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. (1897526)
1991
31
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (2081601)
1990
32
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
33
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (2895982)
1988
34
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (2878939)
1987
35
Oculocerebrorenal syndrome: case report with CT and MR correlates. (3111218)
1987
36
Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. (3958170)
1986
37
Mitochondrial defects in Lowe's oculocerebrorenal syndrome. (6691827)
1984
38
Arthropathy of Lowe's (oculocerebrorenal) syndrome. (6860374)
1983
39
A new variant of Lowe oculocerebrorenal syndrome. (7256724)
1980
40
Renal transport of amino acids in children with oculocerebrorenal syndrome. (669970)
1978
41
Haematological studies in a case of oculocerebrorenal syndrome. (856773)
1977
42
Ocular manifestations in patients and female relatives of families with the oculocerebrorenal syndrome of Lowe. (953206)
1976
43
Nutritional investigations in the oculocerebrorenal syndrome of Lowe. (4480430)
1974
44
Oculocerebrorenal syndrome. (Lowe syndrome). (4639225)
1972
45
Renal function and morphology in a girl with oculocerebrorenal syndrome. (5450274)
1970
46
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. (5763831)
1969
47
Oculocerebrorenal syndrome of Lowe. A case report. (6022734)
1967
48
Oculocerebrorenal syndrome in a female child. (4951545)
1967

Variations for Oculocerebrorenal Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Oculocerebrorenal Syndrome:

65 (show all 36)
id Symbol AA change Variation ID SNP ID
1OCRLp.Arg337ProVAR_010169
2OCRLp.Val372GlyVAR_010172rs137853834
3OCRLp.His375TyrVAR_010173rs137853848
4OCRLp.Gly421GluVAR_010174rs137853855
5OCRLp.Asn424AspVAR_010175rs137853856
6OCRLp.Asp451GlyVAR_010176rs137853850
7OCRLp.Phe463SerVAR_010177rs137853851
8OCRLp.Cys498TyrVAR_010178rs137853857
9OCRLp.Arg500GlyVAR_010179
10OCRLp.Arg500GlnVAR_010180rs137853260
11OCRLp.Val508AspVAR_010181rs137853849
12OCRLp.Tyr513CysVAR_010182rs137853847
13OCRLp.Ser522ArgVAR_010183rs137853853
14OCRLp.His524GlnVAR_010184rs137853261
15OCRLp.His524ArgVAR_010185rs137853852
16OCRLp.Ile533SerVAR_010187
17OCRLp.Arg318CysVAR_022698rs137853263
18OCRLp.Pro526LeuVAR_023958rs137853858
19OCRLp.Phe242SerVAR_064773rs137853828
20OCRLp.Ile274ThrVAR_064774rs137853829
21OCRLp.Gln277ArgVAR_064775rs137853830
22OCRLp.Arg337CysVAR_064776rs137853831
23OCRLp.Arg361IleVAR_064778rs137853832
24OCRLp.Asn373TyrVAR_064779rs137853835
25OCRLp.Ser374PheVAR_064780rs137853836
26OCRLp.His414ArgVAR_064781rs137853837
27OCRLp.Asp451AsnVAR_064782rs137853838
28OCRLp.Arg457GlyVAR_064783rs137853839
29OCRLp.Glu468GlyVAR_064784rs137853841
30OCRLp.Glu468LysVAR_064785rs137853840
31OCRLp.Pro495LeuVAR_064787
32OCRLp.Asp499HisVAR_064788rs137853842
33OCRLp.Trp503ArgVAR_064789rs137853843
34OCRLp.Asn591LysVAR_064790rs137853844
35OCRLp.Pro801LeuVAR_064793
36OCRLp.Leu891ArgVAR_064794rs137853845

Clinvar genetic disease variations for Oculocerebrorenal Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1OCRLOCRL, 112-BP DELdeletionPathogenic
2OCRLNM_000276.3(OCRL): c.2530C> T (p.Arg844Ter)single nucleotide variantPathogenicrs387906484GRCh37Chr X, 128723882: 128723882
3OCRLNM_000276.3(OCRL): c.1499G> A (p.Arg500Gln)single nucleotide variantPathogenicrs137853260GRCh37Chr X, 128703273: 128703273
4OCRLNM_000276.3(OCRL): c.1572C> G (p.His524Gln)single nucleotide variantPathogenicrs137853261GRCh37Chr X, 128703346: 128703346
5OCRLNM_000276.3(OCRL): c.952C> T (p.Arg318Cys)single nucleotide variantPathogenicrs137853263GRCh37Chr X, 128696373: 128696373

Expression for genes affiliated with Oculocerebrorenal Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculocerebrorenal Syndrome

Search GEO for disease gene expression data for Oculocerebrorenal Syndrome.

Pathways for genes affiliated with Oculocerebrorenal Syndrome

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51PathCards, 5Cell Signaling Technology, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5INPPL1, INPP5D, OCRL
2
Show member pathways
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis39
inositol pyrophosphates biosynthesis39
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis39
8.0SYNJ1, OCRL, INPP5D, INPP5J, INPP5A, INPP5B
37.3INPP5B, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
4
Show member pathways
7.3PI4K2A, INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
5
Show member pathways
7.3INPP5D, INPPL1, INPP5K, OCRL, SYNJ2, SYNJ1
6
Show member pathways
6.4INPPL1, INPP5D, INPP5J, PI4K2A, INPP5K, OCRL
7
Show member pathways
D-myo-inositol-5-phosphate metabolism39
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism39
D-myo-inositol (1,4,5)-trisphosphate degradation39
superpathway of inositol phosphate compounds39
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)39
D-myo-inositol (1,4,5)-trisphosphate biosynthesis39
myo-inositol biosynthesis39
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)39
D-myo-inositol (1,3,4)-trisphosphate biosynthesis39
6.4PI4K2A, INPP5B, INPP5E, INPP5A, OCRL, SYNJ1

Compounds for genes affiliated with Oculocerebrorenal Syndrome

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1Inositol 1,3,4-trisphosphate259.4INPP5A, INPP5J, INPPL1, INPP5K
21D-Myo-inositol 1,4-bisphosphate259.4INPP5A, INPP5J, INPPL1, INPP5K
3Inositol 1,3,4,5-tetraphosphate259.4INPP5A, INPP5J, INPPL1, INPP5K
4Inositol 1,4,5-trisphosphate259.4INPP5A, INPP5J, INPPL1, INPP5K
5inositol 1,3,4,5-tetrakisphosphate46 1210.3INPP5J, INPP5D, INPPL1, INPP5K, OCRL
6inositol 1,4,5 trisphosphate469.1INPP5A, INPP5J, OCRL
7phosphatidylinositol-3,4,5-trisphosphate46 2510.1INPP5E, INPP5J, INPP5D, INPPL1, INPP5K
81-Phosphatidyl-D-myo-inositol258.9INPP5B, INPP5E, OCRL, SYNJ2, SYNJ1
9inositol468.8INPP5E, INPP5J, INPP5D, INPPL1, INPP5K, OCRL
10phosphoinositide468.5INPP5J, INPP5D, INPPL1, SYNJ1, RAB6A
11tyrosine468.3RAB6A, SYNJ1, INPPL1, INPP5D, INPP5J, GOLGA5
12lipid468.0INPP5J, INPP5D, INPPL1, INPP5K, OCRL, SYNJ1
13phosphatidylinositol467.8PI4K2A, INPP5J, INPP5D, INPPL1, INPP5K, OCRL
14Water257.5INPP5B, INPP5E, INPP5A, INPP5J, INPPL1, INPP5K
15Phosphate257.1SYNJ1, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

GO Terms for genes affiliated with Oculocerebrorenal Syndrome

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17Gene Ontology
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Cellular components related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi-associated vesicleGO:0057989.7COPB1, OCRL
2trans-Golgi networkGO:0058029.1RAB6A, OCRL, INPP5K
3Golgi membraneGO:0001398.4CLCN5, GOLGA5, COPB1, COG4, RAB2B, RAB6A
4Golgi apparatusGO:0057948.2RAB6A, COPB1, INPPL1, INPP5B, PI4K2A, GOLGA5
5plasma membraneGO:0058867.8INPP5B, INPP5A, INPP5J, INPP5K, OCRL, COPB1
6membraneGO:0160207.2INPP5D, INPP5K, CLCN5, RAB6A, SYNJ2, INPP5B
7cytosolGO:0058296.0COPB1, RAB6A, SYNJ1, SYNJ2, OCRL, INPPL1

Biological processes related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ruffle assemblyGO:09717810.1INPP5K, INPPL1
2inositol phosphate dephosphorylationGO:04685510.1INPP5K, INPP5E
3phosphate-containing compound metabolic processGO:0067969.7INPP5D, SYNJ1
4negative regulation of peptidyl-serine phosphorylationGO:0331379.6INPP5J, INPP5K
5retrograde vesicle-mediated transport, Golgi to ERGO:0068909.3RAB6A, COG4, COPB1
6small GTPase mediated signal transductionGO:0072648.8RAB6A, INPP5B, RAB2B, OCRL
7inositol phosphate metabolic processGO:0436478.3INPP5B, OCRL, SYNJ1, INPPL1, INPP5D, INPP5J
8phosphatidylinositol biosynthetic processGO:0066617.5PI4K2A, INPP5E, SYNJ1, INPP5J, INPP5D, INPPL1
9phospholipid metabolic processGO:0066447.5SYNJ1, SYNJ2, OCRL, INPP5K, INPPL1, INPP5D
10phosphatidylinositol dephosphorylationGO:0468567.0INPP5E, INPP5A, INPP5J, INPP5D, INPP5K, OCRL
11small molecule metabolic processGO:0442816.5PI4K2A, INPP5B, INPP5E, INPP5A, INPP5J, INPP5D

Molecular functions related to Oculocerebrorenal Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activityGO:0344859.9INPP5J, INPP5K
2phosphatidylinositol trisphosphate phosphatase activityGO:0345949.6INPP5K, INPP5D
3inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activityGO:0526599.5INPP5K, INPP5J, INPP5A
4SH3 domain bindingGO:0171249.4INPP5J, INPP5D, INPPL1
5inositol-1,4,5-trisphosphate 5-phosphatase activityGO:0526589.2INPP5K, INPP5J, INPP5B, INPP5A
6phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:0044398.7SYNJ1, INPP5B, INPP5E, OCRL, SYNJ2
7inositol-polyphosphate 5-phosphatase activityGO:0044458.6INPP5A, INPP5E, INPP5J, INPP5D, SYNJ1, INPP5K
8protein bindingGO:0055155.6SYNJ2, COPB1, INPP5K, COG4, RAB6A, OCRL

Products for genes affiliated with Oculocerebrorenal Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
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38MGI
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42NDF-RT
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49OMIM via Orphanet
53PubMed
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