OCRL
MCID: LWC002
MIFTS: 67

Lowe Oculocerebrorenal Syndrome (OCRL)

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

Aliases & Classifications for Lowe Oculocerebrorenal Syndrome

MalaCards integrated aliases for Lowe Oculocerebrorenal Syndrome:

Name: Lowe Oculocerebrorenal Syndrome 58 12 54 26 76 41
Lowe Syndrome 58 12 77 25 54 26 60 76 38 30 13 56 6
Oculocerebrorenal Syndrome 12 77 25 54 26 45 15 74
Oculocerebrorenal Syndrome of Lowe 12 25 26 60
Ocrl 58 54 60 76
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 58 54
Ocrl1 58 54
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 26
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 60
Lowe Oculo-Cerebro-Renal Syndrome 60
Chromosome 11p Deletion Syndrome 74
Oculo-Cerebro-Renal Dystrophy 60
Oculo-Cerebro-Renal Syndrome 60
Oculocerebrorenal Dystrophy 60
Cerebrooculorenal Syndrome 26
Lowe Disease 60
Low 77
Ocr 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
x-linked recessive

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


HPO:

33
lowe oculocerebrorenal syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance Penetrance is complete, with similar phenotype in affected males within any given family...

Classifications:



External Ids:

Disease Ontology 12 DOID:1056
OMIM 58 309000
KEGG 38 H00692
MeSH 45 D009800
NCIt 51 C84940
SNOMED-CT 69 79385002
ICD10 34 E72.03
MESH via Orphanet 46 D009800
ICD10 via Orphanet 35 E72.0
UMLS via Orphanet 75 C0028860
Orphanet 60 ORPHA534

Summaries for Lowe Oculocerebrorenal Syndrome

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Lowe Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent disease 1 and renal tubular transport disease, 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 Calcium and potassium phosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are nystagmus and depressivity

Disease Ontology : 12 A X-linked recessive disease 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.

Genetics Home Reference : 26 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.

NIH Rare Diseases : 54 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.

Wikipedia : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Description from OMIM: 309000
GeneReviews: NBK1480

Related Diseases for Lowe Oculocerebrorenal Syndrome

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

(show top 50) (show all 3888)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.6 CLCN5 INPP5B LRP2 OCRL
2 renal tubular transport disease 31.8 CLCN5 OCRL
3 fanconi syndrome 31.7 CLCN5 LRP2 OCRL
4 nephrocalcinosis 31.6 CLCN5 LRP2 OCRL
5 x-linked recessive disease 31.5 CLCN5 INPP5B OCRL
6 aminoaciduria 31.5 CLCN5 OCRL
7 nephrolithiasis, calcium oxalate 29.3 CLCN5 NAGLU
8 idiopathic hypercalciuria 29.1 CLCN5 NAGLU
9 polymorphous low-grade adenocarcinoma 12.3
10 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.3
11 low tension glaucoma 12.2
12 low compliance bladder 12.2
13 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.2
14 low-flow priapism 12.1
15 low anorectal malformation 12.1
16 multilocular cystic renal neoplasm of low malignant potential 12.1
17 low density lipoprotein cholesterol level quantitative trait locus 7 12.0
18 low density lipoprotein cholesterol level quantitative trait locus 6 12.0
19 low density lipoprotein cholesterol level quantitative trait locus 8 12.0
20 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 12.0
21 ovarian low malignant potential tumor 12.0
22 low-grade neuroendocrine tumor of the corpus uteri 12.0
23 dna, low-repetitive sequences of 11.9
24 low density lipoprotein, variation in molecular weight of 11.9
25 nail low-sulfur protein 11.9
26 hypogonadism with low-grade mental deficiency and microcephaly 11.9
27 immunoglobulin d level in plasma, low 11.9
28 low density lipoprotein cholesterol, mild elevation of 11.9
29 low implantation of placenta 11.9
30 hypercholesterolemia, familial 11.8
31 dent disease 2 11.8
32 gallbladder disease 1 11.8
33 zinc deficiency, transient neonatal 11.7
34 hellp syndrome 11.7
35 non-invasive bladder papillary urothelial neoplasm 11.7
36 hypoalphalipoproteinemia, primary 11.6
37 cataract 11.6
38 kowarski syndrome 11.6
39 fibrillary astrocytoma 11.6
40 deafness, autosomal dominant 1 11.5
41 seaver cassidy syndrome 11.5
42 bone mineral density quantitative trait locus 3 11.5
43 squalene synthase deficiency 11.5
44 leukemia, chronic lymphocytic 2 11.4
45 hypogonadotropic hypogonadism 23 without anosmia 11.4
46 raine syndrome 11.4
47 hypercholesterolemia, autosomal dominant, 3 11.4
48 hyperacusis 11.4
49 prostate cancer 11.4
50 cholestasis, benign recurrent intrahepatic, 1 11.4

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



Diseases related to Lowe Oculocerebrorenal Syndrome

Symptoms & Phenotypes for Lowe Oculocerebrorenal Syndrome

Human phenotypes related to Lowe Oculocerebrorenal Syndrome:

60 33 (show top 50) (show all 143)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 depressivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000716
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 dysphasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002357
5 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
6 neonatal hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001319
7 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
8 renal insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0000083
9 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
10 stereotypy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000733
11 dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001944
12 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
13 anxiety 60 33 hallmark (90%) Very frequent (99-80%) HP:0000739
14 abnormality of the renal tubule 60 33 hallmark (90%) Very frequent (99-80%) HP:0000091
15 hypercalciuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002150
16 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820
17 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
18 amblyopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000646
19 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
20 proximal renal tubular acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002049
21 hyponatremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002902
22 abnormal pupil morphology 33 hallmark (90%) HP:0000615
23 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
24 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
25 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
26 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
27 clonus 60 33 frequent (33%) Frequent (79-30%) HP:0002169
28 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
29 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
30 self-injurious behavior 60 33 frequent (33%) Frequent (79-30%) HP:0100716
31 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
32 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
33 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
34 joint swelling 60 33 frequent (33%) Frequent (79-30%) HP:0001386
35 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
36 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
37 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
38 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
39 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
40 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411
41 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
42 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
43 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
44 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
45 buphthalmos 60 33 frequent (33%) Frequent (79-30%) HP:0000557
46 obsessive-compulsive behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000722
47 hyperparathyroidism 60 33 frequent (33%) Frequent (79-30%) HP:0000843
48 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
49 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
50 osteomalacia 60 33 frequent (33%) Frequent (79-30%) HP:0002749

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
genu valgum

Abdomen Gastrointestinal:
constipation

Neurologic Central Nervous System:
neonatal hypotonia
ventriculomegaly
areflexia
periventricular cysts
mental retardation (in some)
more
Laboratory Abnormalities:
proteinuria
aminoaciduria
elevated serum acid phosphatase
bicarbonaturia
phosphaturia
more
Skeletal Pelvis:
hip dislocation

Skeletal:
joint hypermobility
osteomalacia
pathologic fractures
renal rickets

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

Head And Neck Teeth:
enamel hypoplasia
dental cysts

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

Growth Other:
failure to thrive

Skeletal Spine:
scoliosis
kyphosis
platyspondyly

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
microphthalmia
glaucoma
decreased visual acuity
congenital cataract (males)
corneal keloid
more
Metabolic Features:
proximal renal tubular acidosis
renal fanconi syndrome

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

Genitourinary Kidneys:
renal failure

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

Clinical features from OMIM:

309000

UMLS symptoms related to Lowe Oculocerebrorenal Syndrome:


constipation

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

27
# 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 Oculocerebrorenal Syndrome:

47
# 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 9.17 GALK1 INPP5B INPP5E LRP2 NAGLU OCRL

Drugs & Therapeutics for Lowe Oculocerebrorenal Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
2 potassium phosphate Phase 1, Phase 2
3 Phosphorus Supplement Phase 1, Phase 2
4 Calcium, Dietary Phase 1, Phase 2
5 Hemostatics Not Applicable
6 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
2 Genetic Analysis of Oculocerebrorenal Syndrome of Lowe Completed NCT00359515
3 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560 Not Applicable
4 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
7 Dent Disease Mutation Genotyping Recruiting NCT01783795 Not Applicable

Search NIH Clinical Center for Lowe Oculocerebrorenal Syndrome

Cochrane evidence based reviews: oculocerebrorenal syndrome

Genetic Tests for Lowe Oculocerebrorenal Syndrome

Genetic tests related to Lowe Oculocerebrorenal Syndrome:

# Genetic test Affiliating Genes
1 Lowe Syndrome 30 OCRL

Anatomical Context for Lowe Oculocerebrorenal Syndrome

MalaCards organs/tissues related to Lowe Oculocerebrorenal Syndrome:

42
Kidney, Eye, Brain, Skin, Liver, Testes

Publications for Lowe Oculocerebrorenal Syndrome

Articles related to Lowe Oculocerebrorenal Syndrome:

(show top 50) (show all 148)
# Title Authors Year
1
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. ( 30501482 )
2018
2
OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease. ( 30590522 )
2018
3
"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". ( 29226564 )
2018
4
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. ( 29300302 )
2018
5
Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex. ( 29444177 )
2018
6
Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells. ( 30147856 )
2018
7
Ophthalmological finding in a patient with lowe syndrome. ( 30650973 )
2018
8
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome. ( 27790796 )
2017
9
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. ( 28516463 )
2017
10
Loss of OCRL increases ciliary PI(4,5)P<sub>2</sub>in Lowe oculocerebrorenal syndrome. ( 28871046 )
2017
11
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. ( 28803024 )
2017
12
Gonadotrophin abnormalities in an infant with Lowe syndrome. ( 28469921 )
2017
13
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
14
Lowe syndrome: Dysregulation of autophagosome-lysosome fusion in Lowe syndrome. ( 27425161 )
2016
15
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome. ( 27867521 )
2016
16
Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome. ( 27229703 )
2016
17
Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes. ( 26725203 )
2016
18
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. ( 27178641 )
2016
19
Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. ( 27895154 )
2016
20
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome. ( 27059748 )
2016
21
Novel mutation of OCRL1 in Lowe syndrome. ( 25297642 )
2015
22
Clinical utility gene card for: Lowe syndrome. ( 25182134 )
2015
23
The role of the Lowe syndrome protein OCRL in the endocytic pathway. ( 26351914 )
2015
24
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. ( 25838181 )
2015
25
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. ( 25480730 )
2015
26
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. ( 25305077 )
2015
27
Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. ( 26251718 )
2015
28
A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome. ( 24614960 )
2014
29
The cellular and physiological functions of the Lowe syndrome protein OCRL1. ( 24499450 )
2014
30
Lowe syndrome: a single center's experience in Korea. ( 24778696 )
2014
31
A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. ( 22821049 )
2013
32
A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the &amp;quot;O&amp;quot; in OCRL. ( 22915452 )
2013
33
Novel OCRL mutations in Chinese children with Lowe syndrome. ( 23389333 )
2013
34
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. ( 23692838 )
2013
35
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects. ( 27625841 )
2013
36
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. ( 22965764 )
2012
37
Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. ( 21854507 )
2012
38
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling. ( 23739214 )
2012
39
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. ( 22228094 )
2012
40
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. ( 22543976 )
2012
41
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. ( 22378746 )
2012
42
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. ( 22381590 )
2012
43
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
44
Impaired neural development in a zebrafish model for Lowe syndrome. ( 22210625 )
2012
45
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome? ( 27625794 )
2012
46
Recognition of the F&H motif by the Lowe syndrome protein OCRL. ( 21666675 )
2011
47
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. ( 21031565 )
2011
48
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. ( 21901156 )
2011
49
[Genetic testing in a Chinese pedigree with Lowe syndrome]. ( 22177125 )
2011
50
Orthodontic treatment of a patient with Lowe syndrome. ( 21967945 )
2011

Variations for Lowe Oculocerebrorenal Syndrome

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

76 (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

ClinVar genetic disease variations for Lowe Oculocerebrorenal Syndrome:

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
2 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh38 Chromosome X, 129588221: 129588221
3 OCRL NG_008638.1: g.(16327)_24584del deletion Pathogenic
4 OCRL NC_000023.11: g.(?_126549383)_(129592556_?)del deletion Pathogenic GRCh38 Chromosome X, 126549383: 129592556
5 OCRL NM_000276.3(OCRL): c.-165-?_199+?del deletion Pathogenic
6 OCRL NM_000276.3(OCRL): c.-165-?_238+?del deletion Pathogenic
7 OCRL NM_000276.3(OCRL): c.-165-?_*2286+?del deletion Pathogenic
8 OCRL NG_008638.1: g.23614_27859del4246 deletion Pathogenic GRCh37 Chromosome X, 128692865: 128697110
9 OCRL NG_008638.1: g.23614_27859del4246 deletion Pathogenic GRCh38 Chromosome X, 129558888: 129563133
10 OCRL undetermined variant Pathogenic
11 OCRL OCRL: exon 6-12 del deletion Pathogenic
12 OCRL NM_000276.3(OCRL): c.40-5C> T single nucleotide variant Uncertain significance rs201211377 GRCh37 Chromosome X, 128674716: 128674716
13 OCRL NM_000276.3(OCRL): c.40-5C> T single nucleotide variant Uncertain significance rs201211377 GRCh38 Chromosome X, 129540739: 129540739
14 OCRL OCRL, 112-BP DEL deletion Pathogenic
15 OCRL NM_000276.3(OCRL): c.2530C> T (p.Arg844Ter) single nucleotide variant Pathogenic rs387906484 GRCh37 Chromosome X, 128723882: 128723882
16 OCRL NM_000276.3(OCRL): c.2530C> T (p.Arg844Ter) single nucleotide variant Pathogenic rs387906484 GRCh38 Chromosome X, 129589905: 129589905
17 OCRL NM_000276.3(OCRL): c.1499G> A (p.Arg500Gln) single nucleotide variant Pathogenic rs137853260 GRCh37 Chromosome X, 128703273: 128703273
18 OCRL NM_000276.3(OCRL): c.1499G> A (p.Arg500Gln) single nucleotide variant Pathogenic rs137853260 GRCh38 Chromosome X, 129569296: 129569296
19 OCRL NM_000276.3(OCRL): c.1572C> G (p.His524Gln) single nucleotide variant Pathogenic rs137853261 GRCh37 Chromosome X, 128703346: 128703346
20 OCRL NM_000276.3(OCRL): c.1572C> G (p.His524Gln) single nucleotide variant Pathogenic rs137853261 GRCh38 Chromosome X, 129569369: 129569369
21 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
22 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh38 Chromosome X, 129562396: 129562396
23 OCRL NM_000276.3(OCRL): c.1009C> T (p.Arg337Cys) single nucleotide variant not provided rs137853831 GRCh37 Chromosome X, 128696430: 128696430
24 OCRL NM_000276.3(OCRL): c.1009C> T (p.Arg337Cys) single nucleotide variant not provided rs137853831 GRCh38 Chromosome X, 129562453: 129562453
25 OCRL NM_000276.3(OCRL): c.1070G> A (p.Gly357Glu) single nucleotide variant not provided rs137853854 GRCh37 Chromosome X, 128696589: 128696589
26 OCRL NM_000276.3(OCRL): c.1070G> A (p.Gly357Glu) single nucleotide variant not provided rs137853854 GRCh38 Chromosome X, 129562612: 129562612
27 OCRL NM_000276.3(OCRL): c.1082G> T (p.Arg361Ile) single nucleotide variant not provided rs137853832 GRCh37 Chromosome X, 128696601: 128696601
28 OCRL NM_000276.3(OCRL): c.1082G> T (p.Arg361Ile) single nucleotide variant not provided rs137853832 GRCh38 Chromosome X, 129562624: 129562624
29 OCRL NM_000276.3(OCRL): c.1115T> G (p.Val372Gly) single nucleotide variant not provided rs137853834 GRCh37 Chromosome X, 128696634: 128696634
30 OCRL NM_000276.3(OCRL): c.1115T> G (p.Val372Gly) single nucleotide variant not provided rs137853834 GRCh38 Chromosome X, 129562657: 129562657
31 OCRL NM_000276.3(OCRL): c.1117A> T (p.Asn373Tyr) single nucleotide variant not provided rs137853835 GRCh37 Chromosome X, 128696636: 128696636
32 OCRL NM_000276.3(OCRL): c.1117A> T (p.Asn373Tyr) single nucleotide variant not provided rs137853835 GRCh38 Chromosome X, 129562659: 129562659
33 OCRL NM_000276.3(OCRL): c.1121C> T (p.Ser374Phe) single nucleotide variant not provided rs137853836 GRCh37 Chromosome X, 128696640: 128696640
34 OCRL NM_000276.3(OCRL): c.1121C> T (p.Ser374Phe) single nucleotide variant not provided rs137853836 GRCh38 Chromosome X, 129562663: 129562663
35 OCRL NM_000276.3(OCRL): c.1123C> T (p.His375Tyr) single nucleotide variant not provided rs137853848 GRCh37 Chromosome X, 128696642: 128696642
36 OCRL NM_000276.3(OCRL): c.1123C> T (p.His375Tyr) single nucleotide variant not provided rs137853848 GRCh38 Chromosome X, 129562665: 129562665
37 OCRL NM_000276.3(OCRL): c.1241A> G (p.His414Arg) single nucleotide variant not provided rs137853837 GRCh37 Chromosome X, 128696760: 128696760
38 OCRL NM_000276.3(OCRL): c.1241A> G (p.His414Arg) single nucleotide variant not provided rs137853837 GRCh38 Chromosome X, 129562783: 129562783
39 OCRL NM_000276.3(OCRL): c.1262G> A (p.Gly421Glu) single nucleotide variant not provided rs137853855 GRCh37 Chromosome X, 128699766: 128699766
40 OCRL NM_000276.3(OCRL): c.1262G> A (p.Gly421Glu) single nucleotide variant not provided rs137853855 GRCh38 Chromosome X, 129565789: 129565789
41 OCRL NM_000276.3(OCRL): c.1270A> G (p.Asn424Asp) single nucleotide variant not provided rs137853856 GRCh37 Chromosome X, 128699774: 128699774
42 OCRL NM_000276.3(OCRL): c.1270A> G (p.Asn424Asp) single nucleotide variant not provided rs137853856 GRCh38 Chromosome X, 129565797: 129565797
43 OCRL NM_000276.3(OCRL): c.1351G> A (p.Asp451Asn) single nucleotide variant Uncertain significance rs137853838 GRCh37 Chromosome X, 128699855: 128699855
44 OCRL NM_000276.3(OCRL): c.1351G> A (p.Asp451Asn) single nucleotide variant Uncertain significance rs137853838 GRCh38 Chromosome X, 129565878: 129565878
45 OCRL NM_000276.3(OCRL): c.1352A> G (p.Asp451Gly) single nucleotide variant not provided rs137853850 GRCh37 Chromosome X, 128699856: 128699856
46 OCRL NM_000276.3(OCRL): c.1352A> G (p.Asp451Gly) single nucleotide variant not provided rs137853850 GRCh38 Chromosome X, 129565879: 129565879
47 OCRL NM_000276.3(OCRL): c.1369C> G (p.Arg457Gly) single nucleotide variant not provided rs137853839 GRCh37 Chromosome X, 128701243: 128701243
48 OCRL NM_000276.3(OCRL): c.1369C> G (p.Arg457Gly) single nucleotide variant not provided rs137853839 GRCh38 Chromosome X, 129567266: 129567266
49 OCRL NM_000276.3(OCRL): c.1388T> C (p.Phe463Ser) single nucleotide variant not provided rs137853851 GRCh37 Chromosome X, 128701262: 128701262
50 OCRL NM_000276.3(OCRL): c.1388T> C (p.Phe463Ser) single nucleotide variant not provided rs137853851 GRCh38 Chromosome X, 129567285: 129567285

Expression for Lowe Oculocerebrorenal Syndrome

Search GEO for disease gene expression data for Lowe Oculocerebrorenal Syndrome.

Pathways for Lowe Oculocerebrorenal Syndrome

Pathways related to Lowe Oculocerebrorenal Syndrome according to KEGG:

38
# 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
Show member pathways
13.55 GALK1 INPP5B INPP5E INPP5J LRP2 NAGLU
2
Show member pathways
12.29 INPP5E INPP5J OCRL SYNJ1
3
Show member pathways
11.95 INPP5B INPP5E INPP5J OCRL SYNJ1
4
Show member pathways
11.92 LRP2 OCRL SYNJ1
5
Show member pathways
11.72 INPP5E INPP5J OCRL SYNJ1
6
Show member pathways
10.97 INPP5B INPP5J OCRL SYNJ1

GO Terms for Lowe Oculocerebrorenal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.55 CLCN5 INPP5B INPP5E LRP2 OCRL
2 phagocytic vesicle membrane GO:0030670 9.32 INPP5B OCRL
3 cytosol GO:0005829 9.28 CDKN3 CLCN5 GALK1 INPP5B INPP5E INPP5J
4 clathrin-coated pit GO:0005905 9.26 LRP2 OCRL
5 endosome GO:0005768 9.26 CLCN5 INPP5B LRP2 OCRL

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 9.56 INPP5E INPP5J OCRL SYNJ1
2 membrane organization GO:0061024 9.5 LRP2 OCRL SYNJ1
3 inositol phosphate metabolic process GO:0043647 9.46 INPP5B INPP5J OCRL SYNJ1
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.4 OCRL SYNJ1
5 phosphatidylinositol metabolic process GO:0046488 9.37 INPP5E SYNJ1
6 phosphatidylinositol dephosphorylation GO:0046856 9.35 INPP5B INPP5E INPP5J OCRL SYNJ1
7 inositol phosphate dephosphorylation GO:0046855 9.02 INPP5B INPP5E INPP5J OCRL SYNJ1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.87 CDKN3 INPP5B INPP5E INPP5J NAGLU OCRL
2 GTPase activator activity GO:0005096 9.65 INPP5B OCRL TBC1D10B
3 SH3 domain binding GO:0017124 9.63 INPP5J LRP2 SYNJ1
4 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.46 INPP5B INPP5J OCRL SYNJ1
5 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.43 INPP5E INPP5J
6 phosphatidylinositol phosphate 4-phosphatase activity GO:0034596 9.4 OCRL SYNJ1
7 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.37 OCRL SYNJ1
8 inositol phosphate phosphatase activity GO:0052745 9.26 INPP5B OCRL
9 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.26 INPP5B INPP5J OCRL SYNJ1
10 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.02 INPP5B INPP5E INPP5J OCRL SYNJ1

Sources for Lowe Oculocerebrorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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