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OCRL
MCID: LWC002
MIFTS: 68

Lowe Oculocerebrorenal Syndrome (OCRL)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Lowe Oculocerebrorenal Syndrome

About this section

MalaCards integrated aliases for Lowe Oculocerebrorenal Syndrome:

Name: Lowe Oculocerebrorenal Syndrome 57 12 20 43 73 39
Lowe Syndrome 57 12 74 25 20 43 58 73 36 29 13 54 6
Oculocerebrorenal Syndrome 12 74 25 20 43 44 15 71
Oculocerebrorenal Syndrome of Lowe 12 25 43 58
Ocrl 57 20 58 73
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 57 20
Ocrl1 57 20
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 43
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 58
Lowe Oculo-Cerebro-Renal Dystrophy 58
Lowe Oculo-Cerebro-Renal Syndrome 58
Chromosome 11p Deletion Syndrome 71
Lowe Oculocerebrorenal Dystrophy 58
Cerebrooculorenal Syndrome 43
Lowe Disease 58
Low 74

Characteristics:

Orphanet epidemiological data:

58
oculocerebrorenal syndrome of lowe
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom); Age of onset: Neonatal; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract


HPO:

31
lowe oculocerebrorenal syndrome:
Onset and clinical course death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance Penetrance is complete, with variability in severity of phenotype in affected males within any given family.

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1056
OMIM® 57 309000
KEGG 36 H00692
MeSH 44 D009800
NCIt 50 C84940
SNOMED-CT 67 79385002
ICD10 32 E72.03
MESH via Orphanet 45 D009800
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C0028860
Orphanet 58 ORPHA534
UMLS 71 C0028860 C0812435
Sources

Summaries for Lowe Oculocerebrorenal Syndrome

About this section
MedlinePlus Genetics : 43 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking.Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).

MalaCards based summary : Lowe Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent disease 2 and dent disease 1, and has symptoms including constipation An important gene associated with Lowe Oculocerebrorenal Syndrome is OCRL (OCRL Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Ustekinumab and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A syndrome that has material basis in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.

GARD : 20 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.

KEGG : 36 Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. This is a rare X-linked disorder caused by mutations in the OCRL1 gene which encodes the phosphatidylinositol enzyme (4, 5) biphosphate 5-phosphatase present in the Golgi complex. The symptoms of Lowe syndrome include congenital cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal tubular abnormalities.

UniProtKB/Swiss-Prot : 73 Lowe oculocerebrorenal syndrome: X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.

Wikipedia : 74 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

More information from OMIM: 309000
GeneReviews: NBK1480
Sources

Related Diseases for Lowe Oculocerebrorenal Syndrome

About this section

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

(show top 50) (show all 5721)
# Related Disease Score Top Affiliating Genes
1 dent disease 2 32.4 OCRL INPP5B
2 dent disease 1 31.9 RAB5A PHETA1 OCRL LRP2 INPP5E INPP5B
3 aniseikonia 31.8 OCRL GALK1
4 donnai-barrow syndrome 31.8 OCRL LRP2 CLCN5
5 renal tubular transport disease 31.7 OCRL LRP2 CLCN5
6 lens disease 31.7 OCRL GALK1 CRYAA
7 legionnaire disease 31.7 RAB5A RAB35 OCRL
8 ablepharon-macrostomia syndrome 31.7 OCRL CFAP47
9 x-linked recessive disease 31.7 OCRL INPP5B CRYAA CLCN5
10 x-linked monogenic disease 31.7 OCRL CRYAA CLCN5 CFAP47
11 patent ductus arteriosus 1 31.5 INPP5E HYDIN CFAP47
12 aminoaciduria 31.4 OCRL CLCN5
13 proteinuria, chronic benign 30.9 NAGLU LRP2 CLCN5
14 amyotrophic lateral sclerosis 1 30.6 SYNJ2 SYNJ1 SACM1L RAB5A INPP5B CRYAA
15 fanconi syndrome 30.6 OCRL NAGLU LRP2 INPP5B CLCN5
16 idiopathic hypercalciuria 30.1 NAGLU CLCN5
17 charcot-marie-tooth disease 29.8 SYNJ1 RAB5A NAGLU CRYAA CFAP47
18 back pain 11.5
19 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.4
20 gallbladder disease 1 11.3
21 bone mineral density quantitative trait locus 3 11.3
22 hypoalphalipoproteinemia, primary, 1 11.3
23 glaucoma, normal tension 11.3
24 kowarski syndrome 11.3
25 familial hypercholesterolemia 11.2
26 hellp syndrome 11.2
27 zinc deficiency, transient neonatal 11.2
28 polymorphous low-grade adenocarcinoma 11.2
29 deafness, autosomal dominant 1, with or without thrombocytopenia 11.2
30 low compliance bladder 11.2
31 diffuse astrocytoma 11.1
32 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 11.1
33 squalene synthase deficiency 11.1
34 low grade glioma 11.1
35 non-invasive bladder papillary urothelial neoplasm 11.1
36 myelodysplastic syndrome 11.1
37 hypogonadotropic hypogonadism 23 without anosmia 11.1
38 renal tubular acidosis 11.1
39 hypoglycemia 11.1
40 major depressive disorder 11.1
41 electroencephalogram, low-voltage 11.1
42 pulmonary embolism 11.0
43 spinocerebellar ataxia, autosomal recessive 21 11.0
44 low density lipoprotein cholesterol level quantitative trait locus 7 11.0
45 low density lipoprotein cholesterol level quantitative trait locus 8 11.0
46 palmer pagon syndrome 11.0
47 hypercholesterolemia, familial, 3 11.0
48 microcephalic osteodysplastic primordial dwarfism, type i 11.0
49 low density lipoprotein cholesterol level quantitative trait locus 6 11.0
50 raine syndrome 11.0

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



Diseases related to Lowe Oculocerebrorenal Syndrome
Sources

Symptoms & Phenotypes for Lowe Oculocerebrorenal Syndrome

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Human phenotypes related to Lowe Oculocerebrorenal Syndrome:

58 31 (show top 50) (show all 144)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
4 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
5 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
6 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
9 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
10 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
11 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
12 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
13 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
14 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
15 abnormal pupil morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000615
16 amblyopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000646
17 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
18 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
19 proximal renal tubular acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002049
20 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
21 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
22 abnormal renal tubule morphology 31 hallmark (90%) HP:0000091
23 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
24 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
25 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
26 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
27 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
28 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
29 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
30 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
31 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
32 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
33 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
34 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
35 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
36 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
37 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
38 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
39 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
40 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
41 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
42 buphthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0000557
43 hyperparathyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000843
44 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
45 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
46 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
47 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
48 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
49 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
50 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
constipation

Growth Height:
short stature

Skeletal Limbs:
genu valgum

Skeletal:
joint hypermobility
osteomalacia
pathologic fractures
renal rickets

Metabolic Features:
proximal renal tubular acidosis
renal fanconi syndrome

Skeletal Hands:
wrist swelling
finger swelling
tenosynovitis
flexion contractures of the digits

Head And Neck Teeth:
enamel hypoplasia
dental cysts

Skin Nails Hair Skin:
sebaceous cysts (buttocks and perineum)
subcutaneous nodules (fingers)

Skeletal Spine:
scoliosis
kyphosis
platyspondyly

Neurologic Central Nervous System:
neonatal hypotonia
areflexia
ventriculomegaly
periventricular cysts
mental retardation (in some)
more
Laboratory Abnormalities:
proteinuria
aminoaciduria
elevated serum acid phosphatase
bicarbonaturia
phosphaturia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
glaucoma
microphthalmia
decreased visual acuity
congenital cataract (males)
corneal keloid
more
Skeletal Pelvis:
hip dislocation

Prenatal Manifestations Amniotic Fluid:
elevated amniotic fluid alpha-fetoprotein
elevated maternal serum alpha-fetoprotein

Genitourinary Kidneys:
renal failure

Neurologic Behavioral Psychiatric Manifestations:
stereotypic behaviors (tantrums, aggressiveness)

Clinical features from OMIM®:

309000 (Updated 05-Mar-2021)

UMLS symptoms related to Lowe Oculocerebrorenal Syndrome:


constipation

GenomeRNAi Phenotypes related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.47 GALK1
2 Decreased viability GR00221-A-3 9.47 APPL1
3 Decreased viability GR00221-A-4 9.47 APPL1
4 Decreased viability GR00240-S-1 9.47 GALK1
5 Decreased viability GR00249-S 9.47 ARHGAP1 CRYAA INPP5E NAGLU SYNJ1
6 Decreased viability GR00381-A-1 9.47 APPL1 ARHGAP1
7 Decreased viability GR00386-A-1 9.47 LRP2
8 Decreased viability GR00402-S-2 9.47 CFAP47 CRYAA

MGI Mouse Phenotypes related to Lowe Oculocerebrorenal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.5 ARHGAP1 CLCN5 INPP5B INPP5E LRP2 NAGLU
2 vision/eye MP:0005391 9.28 GALK1 INPP5B INPP5E LRP2 NAGLU OCRL
Sources

Drugs & Therapeutics for Lowe Oculocerebrorenal Syndrome

About this section

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 4 815610-63-0
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
6
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
11
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
12
Abatacept Approved Phase 4 332348-12-6 10237
13
Certolizumab pegol Approved Phase 4 428863-50-7
14
Hydroxychloroquine Approved Phase 4 118-42-3 3652
15
belimumab Approved Phase 4 356547-88-1 5957 10451420
16
Etanercept Approved, Investigational Phase 4 185243-69-0
17
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
18
Infliximab Approved Phase 4 170277-31-3
19
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
20 Epinephryl borate Phase 4
21 Hydrocortisone 17-butyrate 21-propionate Phase 4
22 Hydrocortisone hemisuccinate Phase 4
23 Protective Agents Phase 4
24 Methylprednisolone Acetate Phase 4
25 Hormone Antagonists Phase 4
26 Hormones Phase 4
27 glucocorticoids Phase 4
28 Neuroprotective Agents Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Antiemetics Phase 4
31 Pharmaceutical Solutions Phase 4
32 Antirheumatic Agents Phase 4
33 Anti-Inflammatory Agents Phase 4
34 Analgesics, Non-Narcotic Phase 4
35 Immunosuppressive Agents Phase 4
36 Gastrointestinal Agents Phase 4
37 Anti-Inflammatory Agents, Non-Steroidal Phase 4
38 Immunologic Factors Phase 4
39 Analgesics Phase 4
40
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
41
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
42
Sulfasalazine Approved Phase 3 599-79-1 5353980 5359476
43
Zoledronic Acid Approved Phase 3 118072-93-8 68740
44
chloroquine Approved, Investigational, Vet_approved Phase 3 54-05-7 2719
45
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
46
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
47
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
49 Folic Acid Antagonists Phase 3
50 Anti-Infective Agents Phase 3

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 A Prospective, Single-centre, Randomised Study Evaluating the Clinical, Imaging and Immunological Depth of Remission Achieved by Very Early Versus Delayed Etanercept in Patients With Rheumatoid Arthritis Completed NCT02433184 Phase 4 Etanercept;Methotrexate;Sulfasalazine;Hydroxychloroquine;Etanercept;Methotrexate
2 Treat-to-Target Strategy With Etanercept for Ankylosing Spondylitis: a Prospective, Randomized Multicentric Study on Disease Activity Guided Etanercept Tapering or Discontinuation Completed NCT03880968 Phase 4 tapering or discontinuation of etanercept
3 An Open-label, Single-arm Study to Describe Glucocorticoid Use in Rheumatoid Arthritis Patients Treated With Tocilizumab in Daily Clinical Practice and to Evaluate Systematic Glucocorticoid Dose Reduction Once Low Disease Activity is Reached (ACT-ALONE) Completed NCT01219933 Phase 4 methylprednisolone;tocilizumab [RoActemra/Actemra]
4 Tight Control Dose Reductions of Biologics in Psoriasis Patients With Low Disease Activity: A Randomized Pragmatic Trial Completed NCT02602925 Phase 4
5 Multicenter Prospective Trial to Investigate Accuracy of Ultrasound to Predict Relapse After Discontinuation of Infliximab and Efficacy/Safety of Readministration of Infliximab in Patients With Rheumatoid Arthritis in Low Disease Activity Completed NCT02770794 Phase 4 Infliximab
6 Dose Reduction or Discontinuation of Etanercept in Methotrexate-Treated Rheumatoid Arthritis Subjects Who Have Achieved a Stable Low Disease Activity-state (DOSERA) Completed NCT00858780 Phase 4 Etanercept;Etanercept;Placebo
7 Effect of TNF-blocker Injections Spacing on Rheumatoid Arthritis Inflammatory Activity in Patients in Clinical Remission or Low Disease Activity Completed NCT00780793 Phase 4 progressive spacing of TNF-blocker injections;DMARD maintenance
8 Comparison of Two Strategies of Glucocorticoid Withdrawal in Rheumatoid Arthritis Patients in Low Disease Activity or Remission. Recruiting NCT02997605 Phase 4 GlucoCorticoid
9 A Multicenter, Randomized, Open-label, Blinded-assessor, Follow-up, Phase 4 Study in Patients With Rheumatoid Arthritis Who Have Completed the Initial Treatment Part in the NORD-STAR Study and Have Reached Stable Low Disease Activity Active, not recruiting NCT02466581 Phase 4 Sulphasalazine + Hydroxychloroquine OR Prednisolone
10 Targeted Treatment Early With Etanercept Plus Methotrexate Versus T2T Care for DMARD-naïve Early RA Patients. A Prospective, Longitudinal Cohort Study With Embedded Pilot Randomised Controlled Trial to Assess Treatment Rationalisation Based on naïve T-cell Stratification. Not yet recruiting NCT03813771 Phase 4 Benepali;Sulfasalazine;Methotrexate;Hydroxychloroquine
11 Treat-to-target Strategy in Ankylosing Spondylitis Using Etanercept and Conventional Synthetic DMARDs, a Prospective Randomized Controlled Study Not yet recruiting NCT04077957 Phase 4 Methotrexate;Sulfasalazine;Hydroxychloroquine;Etanercept (50mg per week, for 4 weeks);Etanercept (50mg per week, for 2 weeks);Etanercept (50mg per week)
12 Efficacy and Safety of Belimumab for Prevention of Disease Flares in SLE Patients With Low Disease Activity Not yet recruiting NCT04515719 Phase 4
13 Discontinuation of TNF-alpha Inhibitors in Spondylarthritis Patients With Low Disease Activity, and Re-initiation of Therapy if Disease Flares Terminated NCT00726804 Phase 4 Discontinuation of TNF-alpha inhibitor and re-starting it if flare-up in disease activity (etanercept or adalimumab)
14 To Demonstrate the Ability of Abatacept in Comparison to Placebo to Obtain a Low Disease Activity [PMR-AS (CRP) Lower or Equal to 10] Without GCs (Prednisone or Prednisolone) at Week 12 in Early Onset PMR Patients. Recruiting NCT03632187 Phase 3 Abatacept;Placebos
15 Randomized Clinical Trial on the Prevention of Radiographic Progression With Zoledronic Acid in Patients With Early Rheumatoid Arthritis and Low Disease Activity Terminated NCT02123264 Phase 3 Zoledronic acid
16 Induction of Remission in RA Patients at Low Disease Activity by Additional Infliximab-therapy Terminated NCT00521924 Phase 3 DMARDs (methotrexate; chloroquine; leflunomidum; cyclosporin A; sulfasalazine; OM 89.
17 Safety and Efficiency of Anti-CD19/CD22 Tandem Fully Human Chimeric Antigen Receptor (CAR)-Transduced T-cell Therapy for Pediatric and Young Adult Patients With Relapsed/Refractory B-cell Acute Lymphoblastic Leukemia: a Single Centre, Non-randomised, Open Label Phase I-II Clinical Trial of Automatically Produced Cell Therapy Product MB-CAR-T19-22 Using CliniMACS Prodigy Recruiting NCT04499573 Phase 1, Phase 2 CD19/CD22 CAR-T
18 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome Completed NCT01314560
19 Mutation Detection for Lowe Syndrome Completed NCT00359515
20 Treating to Target (T2T) for Patients With Rheumatoid Arthritis in a US Population: Outcomes and Feasibility Completed NCT01407419
21 Estimation and Accuracy in Sound Task Perceived to be Medically Diagnostic Completed NCT02271685
22 Utility of a Measure of Lupus Low Disease Activity State (LLDAS) in SLE: Pooled Analysis of the HGS1006-C1056 (BLISS-76) and HGS1006-C1057 (BLISS-52) Trials Completed NCT02769195
23 Effect of Spacing of Anti-TNF Drugs in Ankylosing Spondylitis With Low Disease Activity: a Randomized Controlled Trial Completed NCT01610947 Adalimumab, Etanercept, Golimumab or infliximab;Adalimumab, Etanercept, Golimumab or infliximab
24 Identifying Patients With Suspicion of Infection in the ED Who Have Low Disease Severity Using Midregional Proadrenomedullin (MR-proADM) - Pilot Study Completed NCT03770533
25 The Impact of Musculoskeletal Ultrasound-added to Clinical Evaluations- on Patient Reported Outcomes: A Prospective Study of Rheumatoid Arthritis Patients Classified in Remission/Low Disease Activity (ULTRAPRO) Completed NCT03228342
26 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
27 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 The Efficacy, Safety and Cost-effectiveness of Hydroxychloroquine, Sulfasalazine, Methotrexate Triple Therapy in Preventing Relapse Among Patients With Rheumatoid Arthritis Achieving Clinical Remission or Low Disease Activity Recruiting NCT02320630 Entanercept;HCQ;MTX
29 Efficiency of a Tight Monitoring by a Nurse Practitioner of Rheumatoid Arthritis (RA) Patients in Remission (or Low Disease Activity) Under Rituximab to Detect Early Relapse of the Disease Recruiting NCT03027999
30 Validation of the Lupus Low Disease Activity State (LLDAS) in the Asia Pacific Region Recruiting NCT03138941
31 Are we Meeting Patient Treatment Goals With Guideline-based Therapy for Psoriatic Arthritis Active, not recruiting NCT03620188
32 CONfident Treatment Decisions in Living With Rheumatoid Arthritis Enrolling by invitation NCT03317756

Search NIH Clinical Center for Lowe Oculocerebrorenal Syndrome

Cochrane evidence based reviews: oculocerebrorenal syndrome

Sources

Genetic Tests for Lowe Oculocerebrorenal Syndrome

About this section

Genetic tests related to Lowe Oculocerebrorenal Syndrome:

# Genetic test Affiliating Genes
1 Lowe Syndrome 29 OCRL
Sources

Anatomical Context for Lowe Oculocerebrorenal Syndrome

About this section

MalaCards organs/tissues related to Lowe Oculocerebrorenal Syndrome:

40
Eye, Kidney, Brain, Bone
Sources

Publications for Lowe Oculocerebrorenal Syndrome

About this section

Articles related to Lowe Oculocerebrorenal Syndrome:

(show top 50) (show all 357)
# Title Authors PMID Year
1
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. 25 54 57 61
12428211 2002
2
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. 25 61 54 57
9430698 1998
3
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 61 54 25 6
8504307 1993
4
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 57 25 61
16955230 2006
5
Molecular confirmation of carriers for Lowe syndrome. 61 57 25
9917791 1999
6
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 25 57 61
1897526 1991
7
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. 61 25 57
2895982 1988
8
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. 57 25 61
3953680 1986
9
First report of prenatal biochemical diagnosis of Lowe syndrome. 57 61 54
9854717 1998
10
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. 25 57
8488875 1993
11
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. 57 25
2017228 1991
12
OCRL1 function in renal epithelial membrane traffic. 61 54 25
19940034 2010
13
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. 54 61 25
19582483 2009
14
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. 25 54 61
19390221 2009
15
Dent Disease with mutations in OCRL1. 54 61 25
15627218 2005
16
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. 61 54 25
15353600 2004
17
Unusual renal features of Lowe syndrome in a mildly affected boy. 57 61
11146467 2000
18
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. 25 54 61
10767176 2000
19
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. 54 25 61
10923037 2000
20
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. 61 25 54
10364518 1999
21
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 25 54 61
7761412 1995
22
Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. 57 61
2068096 1991
23
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 57 61
2081601 1990
24
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. 61 57
2912070 1989
25
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. 61 57
2878939 1987
26
Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome. 61 57
7180850 1982
27
Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. 61 57
894443 1977
28
[Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)]. 61 57
13863302 1961
29
[Ocular manifestations of Lowe syndrome]. 57 61
13553275 1958
30
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. 61 25
30590522 2019
31
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. 61 25
28516463 2018
32
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. 61 25
27708066 2018
33
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 61 25
28669993 2017
34
Gonadotrophin abnormalities in an infant with Lowe syndrome. 25 61
28469921 2017
35
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. 25 61
27178641 2017
36
The oculocerebrorenal syndrome of Lowe: an update. 61 25
27011217 2016
37
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. 61 25
25480730 2015
38
Lowe syndrome: a single center's experience in Korea. 25 61
24778696 2014
39
OCRL controls trafficking through early endosomes via PtdIns4,5Pâ‚‚-dependent regulation of endosomal actin. 61 25
21971085 2011
40
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. 61 25
21031565 2011
41
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. 25 61
20629659 2010
42
Dent-2 disease: a mild variant of Lowe syndrome. 25 61
19559295 2009
43
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. 61 25
18480301 2008
44
Early proximal tubular dysfunction in Lowe's syndrome. 25 54
15102646 2004
45
Dental findings in Lowe syndrome. 61 25
10633515 1999
46
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. 6
9632163 1998
47
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. 57
8599350 1995
48
Tenosynovitis in Lowe syndrome. 25 61
6644416 1983
49
Lowe's syndrome. 57
6890859 1982
50
Lowe's syndrome: identification of carriers by lens examination. 57
1018304 1976
Sources

Variations for Lowe Oculocerebrorenal Syndrome

About this section

ClinVar genetic disease variations for Lowe Oculocerebrorenal Syndrome:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCRL OCRL, 112-BP DEL Deletion Pathogenic 10856
2 OCRL NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) SNV Pathogenic 10857 rs387906484 X:128723882-128723882 X:129589905-129589905
3 OCRL NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) SNV Pathogenic 10858 rs137853260 X:128703273-128703273 X:129569296-129569296
4 OCRL NM_000276.4(OCRL):c.1572C>G (p.His524Gln) SNV Pathogenic 10859 rs137853261 X:128703346-128703346 X:129569369-129569369
5 OCRL Variation Pathogenic 208008
6 OCRL NC_000023.11:g.(129551601)_129559858del Deletion Pathogenic 208009
7 OCRL Deletion Pathogenic 208010 X:128692865-128697110 X:129558888-129563133
8 OCRL NM_000276.3(OCRL):c.-165-?_*2286+?del Deletion Pathogenic 208011
9 OCRL OCRL:exon 6-12 del Deletion Pathogenic 208014
10 OCRL NM_000276.3(OCRL):c.-165-?_199+?del Deletion Pathogenic 208015
11 OCRL NM_000276.3(OCRL):c.-165-?_238+?del Deletion Pathogenic 208016
12 DCAF12L1 NC_000023.11:g.(?_126549383)_(129592556_?)del Deletion Pathogenic 208017 X:126549383-129592556
13 OCRL NM_000276.4(OCRL):c.239-4023A>G SNV Pathogenic 370030 rs1057515577 X:128687279-128687279 X:129553302-129553302
14 OCRL NM_000276.4(OCRL):c.860dup (p.Tyr288fs) Duplication Pathogenic 457993 rs1556345889 X:128695189-128695190 X:129561212-129561213
15 OCRL NM_000276.4(OCRL):c.940-11G>A SNV Pathogenic 279859 rs776743373 X:128696350-128696350 X:129562373-129562373
16 OCRL NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) SNV Pathogenic 500705 rs1556346316 X:128696421-128696421 X:129562444-129562444
17 OCRL NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) SNV Pathogenic 521093 rs1182741031 X:128709135-128709135 X:129575158-129575158
18 OCRL NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) SNV Pathogenic 594148 rs1569463775 X:128722949-128722949 X:129588972-129588972
19 OCRL NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs) Microsatellite Pathogenic 638866 rs1602782195 X:128692930-128692931 X:129558953-129558954
20 OCRL NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) SNV Pathogenic 641377 rs1602819835 X:128722985-128722985 X:129589008-129589008
21 OCRL NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer) Microsatellite Pathogenic 650887 rs1602791255 X:128701314-128701315 X:129567337-129567338
22 OCRL NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) SNV Pathogenic 666558 rs398123287 X:128703272-128703272 X:129569295-129569295
23 OCRL NM_000276.4(OCRL):c.1979A>C (p.His660Pro) SNV Pathogenic 689471 rs1602802640 X:128710393-128710393 X:129576416-129576416
24 OCRL NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) SNV Pathogenic 689472 rs1602802472 X:128710321-128710321 X:129576344-129576344
25 OCRL NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) Deletion Pathogenic 846443 X:128709911-128709913 X:129575934-129575936
26 OCRL NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) SNV Pathogenic 916550 X:128692899-128692899 X:129558922-129558922
27 OCRL NM_000276.4(OCRL):c.1244+1G>A SNV Pathogenic 960576 X:128696764-128696764 X:129562787-129562787
28 OCRL NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) SNV Pathogenic 567454 rs935956958 X:128722910-128722910 X:129588933-129588933
29 OCRL NM_000276.4(OCRL):c.1466+1G>A SNV Likely pathogenic 984692 X:128701341-128701341 X:129567364-129567364
30 OCRL NM_000276.4(OCRL):c.2469+1G>A SNV Likely pathogenic 835463 X:128722991-128722991 X:129589014-129589014
31 OCRL NM_000276.4(OCRL):c.741G>A (p.Trp247Ter) SNV Likely pathogenic 873459 X:128694545-128694545 X:129560568-129560568
32 OCRL NM_000276.4(OCRL):c.560+1G>C SNV Likely pathogenic 578751 rs1569458883 X:128692731-128692731 X:129558754-129558754
33 OCRL NM_000276.4(OCRL):c.2470-1G>A SNV Likely pathogenic 657548 rs1602820970 X:128723821-128723821 X:129589844-129589844
34 OCRL NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) SNV Likely pathogenic 829834 rs1602783564 X:128694628-128694628 X:129560651-129560651
35 OCRL NM_000276.4(OCRL):c.1244+1338_1366del Deletion Likely pathogenic 642337 X:128698100-128701239 X:129564123-129567262
36 OCRL NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) SNV Uncertain significance 647197 rs1602791150 X:128701244-128701244 X:129567267-129567267
37 OCRL NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) SNV Uncertain significance 568253 rs1569460717 X:128703288-128703288 X:129569311-129569311
38 OCRL NM_000276.4(OCRL):c.1602G>A (p.Gly534=) SNV Uncertain significance 457991 rs773214157 X:128703376-128703376 X:129569399-129569399
39 OCRL NM_000276.4(OCRL):c.809A>G (p.Asp270Gly) SNV Uncertain significance 840219 X:128694613-128694613 X:129560636-129560636
40 OCRL NM_000276.4(OCRL):c.1467-3C>G SNV Uncertain significance 664335 rs779822028 X:128703238-128703238 X:129569261-129569261
41 OCRL NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) SNV Uncertain significance 579629 rs1569460215 X:128701241-128701241 X:129567264-129567264
42 OCRL NM_000276.4(OCRL):c.40-5C>T SNV Uncertain significance 211780 rs201211377 X:128674716-128674716 X:129540739-129540739
43 OCRL NM_000276.4(OCRL):c.746T>G (p.Val249Gly) SNV Uncertain significance 651071 rs1602783417 X:128694550-128694550 X:129560573-129560573
44 OCRL NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) SNV Uncertain significance 527798 rs1556359544 X:128724176-128724176 X:129590199-129590199
45 OCRL NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg) SNV Uncertain significance 946506 X:128699859-128699859 X:129565882-129565882
46 OCRL NM_000276.4(OCRL):c.441G>A (p.Gly147=) SNV Likely benign 733796 rs199624352 X:128692611-128692611 X:129558634-129558634
47 OCRL NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) SNV Likely benign 759843 rs376280495 X:128723915-128723915 X:129589938-129589938
48 OCRL NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) SNV Benign 787560 rs755071897 X:128721016-128721016 X:129587039-129587039
49 OCRL NM_000276.4(OCRL):c.40-80dup Duplication Benign 804084 rs369736288 X:128674631-128674632 X:129540654-129540655
50 OCRL NM_000276.4(OCRL):c.439+3A>G SNV Benign 92725 rs61752971 X:128691930-128691930 X:129557953-129557953

UniProtKB/Swiss-Prot genetic disease variations for Lowe Oculocerebrorenal Syndrome:

73 (show all 36)
# Symbol AA change Variation ID SNP ID
1 OCRL p.Arg337Pro VAR_010169
2 OCRL p.Val372Gly VAR_010172 rs137853834
3 OCRL p.His375Tyr VAR_010173 rs137853848
4 OCRL p.Gly421Glu VAR_010174 rs137853855
5 OCRL p.Asn424Asp VAR_010175 rs137853856
6 OCRL p.Asp451Gly VAR_010176 rs137853850
7 OCRL p.Phe463Ser VAR_010177 rs137853851
8 OCRL p.Cys498Tyr VAR_010178 rs137853857
9 OCRL p.Arg500Gly VAR_010179 rs398123287
10 OCRL p.Arg500Gln VAR_010180 rs137853260
11 OCRL p.Val508Asp VAR_010181 rs137853849
12 OCRL p.Tyr513Cys VAR_010182 rs137853847
13 OCRL p.Ser522Arg VAR_010183 rs137853853
14 OCRL p.His524Gln VAR_010184 rs137853261
15 OCRL p.His524Arg VAR_010185 rs137853852
16 OCRL p.Ile533Ser VAR_010187
17 OCRL p.Arg318Cys VAR_022698 rs137853263
18 OCRL p.Pro526Leu VAR_023958 rs137853858
19 OCRL p.Phe242Ser VAR_064773 rs137853828
20 OCRL p.Ile274Thr VAR_064774 rs137853829
21 OCRL p.Gln277Arg VAR_064775 rs137853830
22 OCRL p.Arg337Cys VAR_064776 rs137853831
23 OCRL p.Arg361Ile VAR_064778 rs137853832
24 OCRL p.Asn373Tyr VAR_064779 rs137853835
25 OCRL p.Ser374Phe VAR_064780 rs137853836
26 OCRL p.His414Arg VAR_064781 rs137853837
27 OCRL p.Asp451Asn VAR_064782 rs137853838
28 OCRL p.Arg457Gly VAR_064783 rs137853839
29 OCRL p.Glu468Gly VAR_064784 rs137853841
30 OCRL p.Glu468Lys VAR_064785 rs137853840
31 OCRL p.Pro495Leu VAR_064787
32 OCRL p.Asp499His VAR_064788 rs137853842
33 OCRL p.Trp503Arg VAR_064789 rs137853843
34 OCRL p.Asn591Lys VAR_064790 rs137853844
35 OCRL p.Pro801Leu VAR_064793
36 OCRL p.Leu891Arg VAR_064794 rs137853845

Sources

Expression for Lowe Oculocerebrorenal Syndrome

About this section
Search GEO for disease gene expression data for Lowe Oculocerebrorenal Syndrome.
Sources

Pathways for Lowe Oculocerebrorenal Syndrome

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Pathways related to Lowe Oculocerebrorenal Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.8 SYNJ2 SYNJ1 SACM1L RAB5A OCRL NAGLU
2
Glycerophospholipid biosynthesis 65
Show member pathways
 12.54 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPP5J
3
superpathway of inositol phosphate compounds 1
Show member pathways
 12.27 SYNJ2 SYNJ1 SACM1L OCRL INPP5J INPP5E
4
Clathrin-mediated endocytosis 65
Show member pathways
 12.09 SYNJ2 SYNJ1 RAB5A OCRL LRP2
5
PI Metabolism 65
Show member pathways
 11.76 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPP5J
6
Inositol phosphate metabolism 65
Show member pathways
 11.72 SYNJ1 OCRL INPP5J INPP5B
7
3-phosphoinositide degradation 1
10.47 SYNJ2 SYNJ1 SACM1L OCRL INPP5J INPP5E
Sources

GO Terms for Lowe Oculocerebrorenal Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.1 SYNJ2 SYNJ1 RAB5A RAB35 PHETA1 OCRL
2 Golgi apparatus GO:0005794 10.08 SACM1L PHETA1 OCRL LRP2 INPP5E INPP5B
3 cell projection GO:0042995 9.98 SYNJ2 RAB5A OCRL LRP2 INPP5E HYDIN
4 cytoplasmic vesicle GO:0031410 9.95 RAB5A RAB35 PHETA1 OCRL INPP5B APPL1
5 early endosome GO:0005769 9.72 RAB5A PHETA1 OCRL CLCN5 APPL1
6 phagocytic vesicle membrane GO:0030670 9.69 RAB5A OCRL INPP5B
7 clathrin-coated vesicle GO:0030136 9.67 RAB35 PHETA1 OCRL
8 early endosome membrane GO:0031901 9.67 RAB5A OCRL INPP5B APPL1
9 clathrin-coated pit GO:0005905 9.63 RAB35 OCRL LRP2
10 clathrin-coated vesicle membrane GO:0030665 9.58 RAB5A RAB35 LRP2
11 anchored component of synaptic vesicle membrane GO:0098993 9.55 RAB5A RAB35
12 early phagosome GO:0032009 9.52 RAB5A APPL1
13 ruffle GO:0001726 9.46 RAB5A INPP5J INPP5E APPL1
14 endosome membrane GO:0010008 9.43 RAB5A RAB35 OCRL CLCN5 ARHGAP1 APPL1
15 endosome GO:0005768 9.23 RAB5A RAB35 PHETA1 OCRL LRP2 INPP5B

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.72 SYNJ2 SYNJ1 RAB5A OCRL LRP2
2 phosphatidylinositol biosynthetic process GO:0006661 9.7 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPP5J
3 endocytosis GO:0006897 9.67 SYNJ1 RAB5A LRP2 CLCN5
4 regulation of small GTPase mediated signal transduction GO:0051056 9.58 OCRL INPP5B ARHGAP1
5 inositol phosphate metabolic process GO:0043647 9.56 SYNJ1 OCRL INPP5J INPP5B
6 phosphatidylinositol metabolic process GO:0046488 9.43 SYNJ1 INPP5E
7 inositol phosphate dephosphorylation GO:0046855 9.43 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B
8 phosphatidylinositol dephosphorylation GO:0046856 9.17 SYNJ2 SYNJ1 SACM1L OCRL INPP5J INPP5E

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.02 SYNJ2 SYNJ1 SACM1L RAB5A OCRL NAGLU
2 SH3 domain binding GO:0017124 9.72 SYNJ2 SYNJ1 LRP2 INPP5J ARHGAP1
3 phosphatidylinositol-3-phosphatase activity GO:0004438 9.49 SYNJ1 SACM1L
4 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.48 OCRL INPP5J
5 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.46 SYNJ1 SACM1L
6 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.43 SYNJ2 SYNJ1
7 phosphoric ester hydrolase activity GO:0042578 9.43 SYNJ2 SYNJ1 SACM1L
8 inositol phosphate phosphatase activity GO:0052745 9.4 OCRL INPP5B
9 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.33 OCRL INPP5J INPP5E
10 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.26 SYNJ1 OCRL INPP5J INPP5B
11 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.1 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B
Sources

Sources for Lowe Oculocerebrorenal Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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