OCRL
MCID: LWS003
MIFTS: 61

Lowe Syndrome (OCRL) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Lowe Syndrome

Aliases & Descriptions for Lowe Syndrome:

Name: Lowe Syndrome 54 12 23 50 24 25 56 66 13 52
Oculocerebrorenal Syndrome 12 23 50 24 25 42 14 69
Lowe Oculocerebrorenal Syndrome 54 12 50 24 25 66
Oculocerebrorenal Syndrome of Lowe 12 23 24 25 56
Ocrl 50 56 66
Lowe Disease 56 29
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 50
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 25
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 56
Lowe Oculo-Cerebro-Renal Syndrome 56
Chromosome 11p Deletion Syndrome 69
Oculo-Cerebro-Renal Dystrophy 56
Oculo-Cerebro-Renal Syndrome 56
Oculocerebrorenal Dystrophy 56
Cerebrooculorenal Syndrome 25
Ocrl1 50
Ocr 56

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
lowe syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance is complete, with similar phenotype in affected males within any given family...

Classifications:



External Ids:

OMIM 54 309000
Disease Ontology 12 DOID:1056
ICD10 33 E72.03
MeSH 42 D009800
NCIt 47 C84940
SNOMED-CT 64 79385002
Orphanet 56 ORPHA534
MESH via Orphanet 43 D009800
UMLS via Orphanet 70 C0028860
ICD10 via Orphanet 34 E72.0
UMLS 69 C0028860

Summaries for Lowe Syndrome

NIH Rare Diseases : 50 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 : Lowe Syndrome, also known as oculocerebrorenal syndrome, is related to hypophosphatemic rickets and cystinuria, and has symptoms including constipation, seizures and joint swelling. An important gene associated with Lowe Syndrome is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase), and among its related pathways/superpathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. The drugs Cocaine and Asparaginase have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and renal/urinary system

UniProtKB/Swiss-Prot : 66 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.

Genetics Home Reference : 25 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

Wikipedia : 71 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

Description from OMIM: 309000
GeneReviews: NBK1480

Related Diseases for Lowe Syndrome

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



Diseases related to Lowe Syndrome

Symptoms & Phenotypes for Lowe Syndrome

Symptoms by clinical synopsis from OMIM:

309000

Clinical features from OMIM:

309000

Human phenotypes related to Lowe Syndrome:

56 32 (show top 50) (show all 139)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 joint swelling 56 32 Frequent (79-30%) HP:0001386
4 joint stiffness 56 32 Occasional (29-5%) HP:0001387
5 clonus 56 32 Frequent (79-30%) HP:0002169
6 frontal bossing 56 32 Frequent (79-30%) HP:0002007
7 genu valgum 56 32 Occasional (29-5%) HP:0002857
8 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
9 nystagmus 56 32 Very frequent (99-80%) HP:0000639
10 depression 56 32 Very frequent (99-80%) HP:0000716
11 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
12 failure to thrive 56 32 Frequent (79-30%) HP:0001508
13 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
14 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
15 dysphasia 56 32 Very frequent (99-80%) HP:0002357
16 scoliosis 56 32 Frequent (79-30%) HP:0002650
17 kyphosis 56 32 Occasional (29-5%) HP:0002808
18 self-injurious behavior 56 32 Frequent (79-30%) HP:0100716
19 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
20 narrow palate 56 32 Occasional (29-5%) HP:0000189
21 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
22 chronic otitis media 56 32 Occasional (29-5%) HP:0000389
23 cataract 56 32 Very frequent (99-80%) HP:0000518
24 arthritis 56 32 Frequent (79-30%) HP:0001369
25 recurrent respiratory infections 56 32 Occasional (29-5%) HP:0002205
26 corneal opacity 56 32 Occasional (29-5%) HP:0007957
27 open bite 56 32 Occasional (29-5%) HP:0010807
28 carious teeth 56 32 Occasional (29-5%) HP:0000670
29 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
30 malabsorption 56 32 Occasional (29-5%) HP:0002024
31 neonatal hypotonia 56 32 Very frequent (99-80%) HP:0001319
32 short stature 56 32 Very frequent (99-80%) HP:0004322
33 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
34 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
35 renal insufficiency 56 32 Very frequent (99-80%) HP:0000083
36 proteinuria 56 32 Very frequent (99-80%) HP:0000093
37 stereotypy 56 32 Very frequent (99-80%) HP:0000733
38 delayed puberty 56 32 Occasional (29-5%) HP:0000823
39 dehydration 56 32 Very frequent (99-80%) HP:0001944
40 hypophosphatemia 56 32 Occasional (29-5%) HP:0002148
41 hypokalemia 56 32 Frequent (79-30%) HP:0002900
42 aminoaciduria 56 32 Very frequent (99-80%) HP:0003355
43 full cheeks 56 32 Frequent (79-30%) HP:0000293
44 anemia 56 32 Occasional (29-5%) HP:0001903
45 long philtrum 56 32 Occasional (29-5%) HP:0000343
46 micrognathia 56 32 Occasional (29-5%) HP:0000347
47 abnormality of the metaphyses 56 32 Occasional (29-5%) HP:0000944
48 strabismus 56 32 Occasional (29-5%) HP:0000486
49 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
50 platyspondyly 56 32 Occasional (29-5%) HP:0000926

UMLS symptoms related to Lowe Syndrome:


constipation

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.92 CDKN3 INPP5B INPP5J OCRL

MGI Mouse Phenotypes related to Lowe Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.43 CLCN5 INPP5B INPP5E LRP2 NAGLU OCRL
2 vision/eye MP:0005391 9.1 GALK1 INPP5B INPP5E LRP2 NAGLU OCRL

Drugs & Therapeutics for Lowe Syndrome

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

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
2
Asparaginase Approved Phase 3 9015-68-3
3
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
4
Daunorubicin Approved Phase 3 20830-81-3 30323
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
7
Thioguanine Approved Phase 3 154-42-7 2723601
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
10
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
11
Levoleucovorin Approved Phase 3 68538-85-2
12
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
13
Pegaspargase Approved, Investigational Phase 3 130167-69-0
14
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
15
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
16
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
17
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
18
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
19
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
21
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
24
Doxil Approved June 1999 Phase 3 31703
25
Butyric Acid Experimental Phase 3 107-92-6 264
26 2-Aminopurine Phase 3
27 6-Mercaptopurine Phase 3
28 Analgesics Phase 3
29 Anti-Bacterial Agents Phase 3
30 Antibiotics, Antitubercular Phase 3
31 Anti-Infective Agents Phase 3
32 Antimetabolites Phase 3
33 Antimetabolites, Antineoplastic Phase 3
34 Antimitotic Agents Phase 3
35 Antineoplastic Agents, Phytogenic Phase 3
36 Antiviral Agents Phase 3
37 Dermatologic Agents Phase 3
38 Etoposide phosphate Phase 3
39 Immunosuppressive Agents Phase 3
40 Keratolytic Agents Phase 3
41 Nucleic Acid Synthesis Inhibitors Phase 3
42 Peripheral Nervous System Agents Phase 3
43 Podophyllotoxin Phase 3 518-28-5
44 Topoisomerase Inhibitors Phase 3
45 Alkylating Agents Phase 3
46 Antidotes Phase 3
47 Antiemetics Phase 3
48 Anti-Inflammatory Agents Phase 3
49 Antineoplastic Agents, Alkylating Phase 3
50 Antineoplastic Agents, Hormonal Phase 3

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 The Efficacy of Tongue Stabilizing Device in Patients With Obstructive Sleep Apnea Recruiting NCT02329925 Phase 4
2 Adherence and Preference of Continuous Positive Airway Pressure Versus Mandibular Advancement Splints in Obstructive Sleep Apnea Patients: A Randomized Trial (CHOICE) Recruiting NCT02242617 Phase 4
3 A Study of the Safety and Effectiveness of DDP733 in Treating IBS With Constipation in Females Unknown status NCT00547469 Phase 2, Phase 3
4 Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome Recruiting NCT02521493 Phase 3
5 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3
6 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
7 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2
8 Genetic Analysis of Oculocerebrorenal Syndrome of Lowe Completed NCT00359515
9 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
10 Inflammatory Cytokine Variations in Traumatic Injury Responses Completed NCT00593892
11 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
12 Dent Disease Mutation Genotyping Recruiting NCT01783795
13 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing Recruiting NCT03065686
14 Study of Blood Samples From Newborns With Down Syndrome Recruiting NCT00959283
15 Rapid Assessment of Potential Ischaemic Heart Disease With CTCA Recruiting NCT02284191
16 Blood Sample Markers of Reproductive Hormones in Assessing Ovarian Reserve in Younger Patients With Newly Diagnosed Lymphomas Recruiting NCT01793233
17 Neuropsychological and Behavioral Testing in Younger Patients With Cancer Recruiting NCT00772200
18 Study of Kidney Tumors in Younger Patients Recruiting NCT00898365
19 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Lowe Syndrome

Cochrane evidence based reviews: oculocerebrorenal syndrome

Genetic Tests for Lowe Syndrome

Genetic tests related to Lowe Syndrome:

id Genetic test Affiliating Genes
1 Lowe Syndrome 29 24 OCRL

Anatomical Context for Lowe Syndrome

MalaCards organs/tissues related to Lowe Syndrome:

39
Eye, Kidney, Brain, Skin, Testes

Publications for Lowe Syndrome

Articles related to Lowe Syndrome:

(show top 50) (show all 84)
id Title Authors Year
1
Gonadotrophin abnormalities in an infant with Lowe syndrome. ( 28469921 )
2017
2
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. ( 28516463 )
2017
3
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome. ( 27790796 )
2017
4
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome. ( 27867521 )
2016
5
Lowe syndrome: Dysregulation of autophagosome-lysosome fusion in Lowe syndrome. ( 27425161 )
2016
6
Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome. ( 27229703 )
2016
7
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. ( 27178641 )
2016
8
Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. ( 27895154 )
2016
9
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome. ( 27059748 )
2016
10
Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes. ( 26725203 )
2016
11
Clinical utility gene card for: Lowe syndrome. ( 25182134 )
2015
12
The role of the Lowe syndrome protein OCRL in the endocytic pathway. ( 26351914 )
2015
13
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. ( 25305077 )
2015
14
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. ( 25480730 )
2015
15
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. ( 25838181 )
2015
16
Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. ( 26251718 )
2015
17
Novel mutation of OCRL1 in Lowe syndrome. ( 25297642 )
2015
18
A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells. ( 25107275 )
2014
19
The cellular and physiological functions of the Lowe syndrome protein OCRL1. ( 24499450 )
2014
20
A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome. ( 24614960 )
2014
21
Lowe syndrome: a single center's experience in Korea. ( 24778696 )
2014
22
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects. ( 27625841 )
2013
23
A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. ( 22821049 )
2013
24
Novel OCRL mutations in Chinese children with Lowe syndrome. ( 23389333 )
2013
25
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. ( 23692838 )
2013
26
A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. ( 22915452 )
2013
27
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. ( 22378746 )
2012
28
Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome. ( 22790198 )
2012
29
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. ( 22228094 )
2012
30
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. ( 22381590 )
2012
31
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. ( 22543976 )
2012
32
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. ( 22965764 )
2012
33
Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. ( 21854507 )
2012
34
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling. ( 23739214 )
2012
35
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. ( 21031565 )
2011
36
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. ( 21225285 )
2011
37
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011
38
A structural basis for Lowe syndrome caused by mutations in the Rab- binding domain of OCRL1. ( 21378754 )
2011
39
Recognition of the F&H motif by the Lowe syndrome protein OCRL. ( 21666675 )
2011
40
[Genetic testing in a Chinese pedigree with Lowe syndrome]. ( 22177125 )
2011
41
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. ( 21901156 )
2011
42
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. ( 20872266 )
2010
43
Congenital diaphragmatic hernia in Lowe syndrome: a rare association? ( 20823704 )
2010
44
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. ( 20629659 )
2010
45
Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. ( 19168822 )
2009
46
Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome. ( 19773212 )
2009
47
Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. ( 19700499 )
2009
48
Mutations in OCRL1 gene in Indian children with Lowe syndrome. ( 18500547 )
2008
49
Renal manifestations of Dent disease and Lowe syndrome. ( 18038239 )
2008
50
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. ( 18480301 )
2008

Variations for Lowe Syndrome

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

66 (show all 36)
id 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

ClinVar genetic disease variations for Lowe Syndrome:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 OCRL OCRL, 112-BP DEL deletion Pathogenic
2 OCRL NM_000276.3(OCRL): c.2530C> T (p.Arg844Ter) single nucleotide variant Pathogenic rs387906484 GRCh37 Chromosome X, 128723882: 128723882
3 OCRL NM_000276.3(OCRL): c.1499G> A (p.Arg500Gln) single nucleotide variant Pathogenic rs137853260 GRCh37 Chromosome X, 128703273: 128703273
4 OCRL NM_000276.3(OCRL): c.1572C> G (p.His524Gln) single nucleotide variant Pathogenic rs137853261 GRCh37 Chromosome X, 128703346: 128703346
5 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
6 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
7 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
8 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
9 OCRL NM_000276.3(OCRL): c.1505T> C (p.Leu502Pro) single nucleotide variant Likely pathogenic rs794727137 GRCh37 Chromosome X, 128703279: 128703279
10 OCRL NM_000276.3(OCRL): c.1714-1G> A single nucleotide variant Pathogenic rs794727182 GRCh37 Chromosome X, 128709873: 128709873
11 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
12 OCRL NG_008638.1: g.(16327)_24584del deletion Pathogenic
13 OCRL NC_000023.11: g.(?_126549383)_(129592556_?)del deletion Pathogenic GRCh38 Chromosome X, 126549383: 129592556
14 OCRL NM_000276.3(OCRL): c.-165-?_199+?del deletion Pathogenic
15 OCRL NM_000276.3(OCRL): c.-165-?_238+?del deletion Pathogenic
16 OCRL NM_000276.3(OCRL): c.-165-?_*2286+?del deletion Pathogenic
17 OCRL NG_008638.1: g.23614_27859del4246 deletion Pathogenic GRCh37 Chromosome X, 128692865: 128697110
18 OCRL undetermined variant Pathogenic
19 OCRL undetermined variant Pathogenic
20 OCRL NM_000276.3(OCRL): c.238+4701A> G single nucleotide variant Pathogenic rs1057515577 GRCh38 Chromosome X, 129553302: 129553302

Expression for Lowe Syndrome

Search GEO for disease gene expression data for Lowe Syndrome.

Pathways for Lowe Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 INPP5B INPP5E INPP5J OCRL
2
Show member pathways
11.7 INPP5E INPP5J OCRL
3
Show member pathways
11.39 INPP5B INPP5J OCRL
4 10.23 INPP5B INPP5E INPP5J OCRL

GO Terms for Lowe Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.81 APPL1 CDKN3 CLCN5 GALK1 INPP5B INPP5E
2 Golgi apparatus GO:0005794 9.65 CLCN5 INPP5B INPP5E LRP2 OCRL
3 phagocytic vesicle membrane GO:0030670 9.37 INPP5B OCRL
4 clathrin-coated pit GO:0005905 9.32 LRP2 OCRL
5 early endosome membrane GO:0031901 9.13 APPL1 INPP5B OCRL
6 endosome GO:0005768 9.02 APPL1 CLCN5 INPP5B LRP2 OCRL

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

id Name GO ID Score Top Affiliating Genes
1 regulation of small GTPase mediated signal transduction GO:0051056 9.43 INPP5B OCRL RHOG
2 phosphatidylinositol biosynthetic process GO:0006661 9.33 INPP5E INPP5J OCRL
3 inositol phosphate metabolic process GO:0043647 9.13 INPP5B INPP5J OCRL
4 phosphatidylinositol dephosphorylation GO:0046856 8.92 INPP5B INPP5E INPP5J OCRL

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 CDKN3 INPP5B INPP5E INPP5J NAGLU OCRL
2 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.33 INPP5B INPP5J OCRL
3 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.26 INPP5E INPP5J
4 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.13 INPP5B INPP5J OCRL
5 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 8.92 INPP5B INPP5E INPP5J OCRL

Sources for Lowe Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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