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OCRL
MCID: LWC002
MIFTS: 67

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
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Aliases & Classifications for Lowe Oculocerebrorenal Syndrome

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MalaCards integrated aliases for Lowe Oculocerebrorenal Syndrome:

Name: Lowe Oculocerebrorenal Syndrome 57 12 53 25 75 40
Lowe Syndrome 57 12 76 24 53 25 59 75 37 29 13 55 6
Oculocerebrorenal Syndrome 12 76 24 53 25 44 15 73
Oculocerebrorenal Syndrome of Lowe 12 24 25 59
Ocrl 57 53 59 75
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 57 53
Ocrl1 57 53
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 25
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 59
Lowe Oculo-Cerebro-Renal Syndrome 59
Chromosome 11p Deletion Syndrome 73
Oculo-Cerebro-Renal Dystrophy 59
Oculo-Cerebro-Renal Syndrome 59
Oculocerebrorenal Dystrophy 59
Cerebrooculorenal Syndrome 25
Lowe Disease 59
Low 76
Ocr 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
x-linked recessive

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


HPO:

32
lowe oculocerebrorenal syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance is complete, with similar 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: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

OMIM 57 309000
Disease Ontology 12 DOID:1056
ICD10 33 E72.03
MeSH 44 D009800
NCIt 50 C84940
SNOMED-CT 68 79385002
Orphanet 59 ORPHA534
MESH via Orphanet 45 D009800
UMLS via Orphanet 74 C0028860
ICD10 via Orphanet 34 E72.0
KEGG 37 H00692
Sources

Summaries for Lowe Oculocerebrorenal Syndrome

About this section
UniProtKB/Swiss-Prot : 75 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 fanconi syndrome, 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 potassium phosphate and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are frontal bossing and genu valgum

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

NIH Rare Diseases : 53 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Description from OMIM: 309000
GeneReviews: NBK1480
Sources

Related Diseases for Lowe Oculocerebrorenal Syndrome

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

(show top 50) (show all 3812)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.7 CLCN5 INPP5B LRP2 OCRL
2 fanconi syndrome 31.7 CLCN5 LRP2 OCRL
3 renal tubular transport disease 31.7 CLCN5 OCRL
4 nephrocalcinosis 31.7 CLCN5 LRP2 OCRL
5 x-linked recessive disease 31.6 CLCN5 INPP5B OCRL
6 aminoaciduria 31.5 CLCN5 OCRL
7 nephrolithiasis, calcium oxalate 29.4 CLCN5 NAGLU
8 idiopathic hypercalciuria 29.1 CLCN5 NAGLU
9 polymorphous low-grade adenocarcinoma 12.2
10 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.2
11 low tension glaucoma 12.2
12 low compliance bladder 12.1
13 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.1
14 low-flow priapism 12.0
15 low anorectal malformation 12.0
16 multilocular cystic renal neoplasm of low malignant potential 12.0
17 low grade ependymoma 12.0
18 low density lipoprotein cholesterol level quantitative trait locus 7 12.0
19 low density lipoprotein cholesterol level quantitative trait locus 6 12.0
20 low density lipoprotein cholesterol level quantitative trait locus 8 12.0
21 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 12.0
22 ovarian low malignant potential tumor 12.0
23 low-grade neuroendocrine tumor of the corpus uteri 12.0
24 dna, low-repetitive sequences of 11.9
25 low density lipoprotein, variation in molecular weight of 11.9
26 nail low-sulfur protein 11.9
27 hypogonadism with low-grade mental deficiency and microcephaly 11.9
28 immunoglobulin d level in plasma, low 11.9
29 low density lipoprotein cholesterol, mild elevation of 11.9
30 low implantation of placenta 11.9
31 hypercholesterolemia, familial 11.8
32 dent disease 2 11.7
33 gallbladder disease 1 11.7
34 zinc deficiency, transient neonatal 11.7
35 hellp syndrome 11.7
36 non-invasive bladder papillary urothelial neoplasm 11.7
37 kowarski syndrome 11.6
38 hypoalphalipoproteinemia, primary 11.6
39 fibrillary astrocytoma 11.5
40 deafness, autosomal dominant 1 11.5
41 seaver cassidy syndrome 11.5
42 bone mineral density quantitative trait locus 3 11.5
43 leukemia, chronic lymphocytic 2 11.4
44 hypogonadotropic hypogonadism 23 without anosmia 11.4
45 raine syndrome 11.4
46 hypercholesterolemia, autosomal dominant, 3 11.4
47 hyperacusis 11.4
48 cholestasis, benign recurrent intrahepatic, 1 11.3
49 borderline epithelial tumor of ovary 11.3
50 prostate cancer 11.3

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

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lowe Oculocerebrorenal Syndrome:

59 32 (show top 50) (show all 142)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
4 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
5 depressivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000716
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
9 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
10 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
11 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
12 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
13 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
14 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
15 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
16 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
17 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
18 narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000189
19 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
20 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
21 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
22 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
23 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
24 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
25 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
26 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
27 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
28 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
29 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
30 neonatal hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001319
31 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
32 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
33 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
34 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
35 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
36 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
37 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
38 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
39 hypophosphatemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002148
40 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
41 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
42 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
43 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
44 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
45 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
46 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
47 abnormality of the metaphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000944
48 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
49 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
50 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926

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 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:

46
# 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
Sources

Drugs & Therapeutics for Lowe Oculocerebrorenal Syndrome

About this section

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 potassium phosphate Phase 1, Phase 2
2 Calcium, Dietary Phase 1, Phase 2
3 Phosphorus Supplement Phase 1, Phase 2
4 Hemostatics Not Applicable
5 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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
5 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
7 Dent Disease Mutation Genotyping Recruiting NCT01783795 Not Applicable

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:

41
Kidney, Eye, Brain, Skin, Bone, Heart, T Cells
Sources

Publications for Lowe Oculocerebrorenal Syndrome

About this section

Articles related to Lowe Oculocerebrorenal Syndrome:

(show top 50) (show all 145)
# Title Authors Year
1
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. ( 30501482 )
2018
2
"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". ( 29226564 )
2018
3
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. ( 29300302 )
2018
4
Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex. ( 29444177 )
2018
5
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
6
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome. ( 27790796 )
2017
7
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. ( 28516463 )
2017
8
Loss of OCRL increases ciliary PI(4,5)P<sub>2</sub>in Lowe oculocerebrorenal syndrome. ( 28871046 )
2017
9
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. ( 28803024 )
2017
10
Gonadotrophin abnormalities in an infant with Lowe syndrome. ( 28469921 )
2017
11
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
12
Lowe syndrome: Dysregulation of autophagosome-lysosome fusion in Lowe syndrome. ( 27425161 )
2016
13
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome. ( 27867521 )
2016
14
Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome. ( 27229703 )
2016
15
Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes. ( 26725203 )
2016
16
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. ( 27178641 )
2016
17
Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. ( 27895154 )
2016
18
Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome. ( 27059748 )
2016
19
Novel mutation of OCRL1 in Lowe syndrome. ( 25297642 )
2015
20
Clinical utility gene card for: Lowe syndrome. ( 25182134 )
2015
21
The role of the Lowe syndrome protein OCRL in the endocytic pathway. ( 26351914 )
2015
22
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. ( 25838181 )
2015
23
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. ( 25480730 )
2015
24
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. ( 25305077 )
2015
25
Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. ( 26251718 )
2015
26
A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome. ( 24614960 )
2014
27
The cellular and physiological functions of the Lowe syndrome protein OCRL1. ( 24499450 )
2014
28
Lowe syndrome: a single center's experience in Korea. ( 24778696 )
2014
29
A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. ( 22821049 )
2013
30
A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the &amp;quot;O&amp;quot; in OCRL. ( 22915452 )
2013
31
Novel OCRL mutations in Chinese children with Lowe syndrome. ( 23389333 )
2013
32
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. ( 23692838 )
2013
33
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects. ( 27625841 )
2013
34
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. ( 22965764 )
2012
35
Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome. ( 21854507 )
2012
36
Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling. ( 23739214 )
2012
37
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. ( 22228094 )
2012
38
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. ( 22543976 )
2012
39
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. ( 22378746 )
2012
40
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. ( 22381590 )
2012
41
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
42
Impaired neural development in a zebrafish model for Lowe syndrome. ( 22210625 )
2012
43
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome? ( 27625794 )
2012
44
Recognition of the F&H motif by the Lowe syndrome protein OCRL. ( 21666675 )
2011
45
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. ( 21031565 )
2011
46
Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. ( 21901156 )
2011
47
[Genetic testing in a Chinese pedigree with Lowe syndrome]. ( 22177125 )
2011
48
Orthodontic treatment of a patient with Lowe syndrome. ( 21967945 )
2011
49
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011
50
Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A&amp;gt;T, c.1736A&amp;gt;G) in a Lowe syndrome family. ( 21225285 )
2011
Sources

Variations for Lowe Oculocerebrorenal Syndrome

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

75 (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 118)
# 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.2530C> T (p.Arg844Ter) single nucleotide variant Pathogenic rs387906484 GRCh38 Chromosome X, 129589905: 129589905
4 OCRL NM_000276.3(OCRL): c.1499G> A (p.Arg500Gln) single nucleotide variant Pathogenic rs137853260 GRCh37 Chromosome X, 128703273: 128703273
5 OCRL NM_000276.3(OCRL): c.1499G> A (p.Arg500Gln) single nucleotide variant Pathogenic rs137853260 GRCh38 Chromosome X, 129569296: 129569296
6 OCRL NM_000276.3(OCRL): c.1572C> G (p.His524Gln) single nucleotide variant Pathogenic rs137853261 GRCh37 Chromosome X, 128703346: 128703346
7 OCRL NM_000276.3(OCRL): c.1572C> G (p.His524Gln) single nucleotide variant Pathogenic rs137853261 GRCh38 Chromosome X, 129569369: 129569369
8 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
9 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Likely pathogenic rs137853263 GRCh38 Chromosome X, 129562396: 129562396
10 OCRL NM_000276.3(OCRL): c.1009C> T (p.Arg337Cys) single nucleotide variant not provided rs137853831 GRCh37 Chromosome X, 128696430: 128696430
11 OCRL NM_000276.3(OCRL): c.1009C> T (p.Arg337Cys) single nucleotide variant not provided rs137853831 GRCh38 Chromosome X, 129562453: 129562453
12 OCRL NM_000276.3(OCRL): c.1070G> A (p.Gly357Glu) single nucleotide variant not provided rs137853854 GRCh37 Chromosome X, 128696589: 128696589
13 OCRL NM_000276.3(OCRL): c.1070G> A (p.Gly357Glu) single nucleotide variant not provided rs137853854 GRCh38 Chromosome X, 129562612: 129562612
14 OCRL NM_000276.3(OCRL): c.1082G> T (p.Arg361Ile) single nucleotide variant not provided rs137853832 GRCh37 Chromosome X, 128696601: 128696601
15 OCRL NM_000276.3(OCRL): c.1082G> T (p.Arg361Ile) single nucleotide variant not provided rs137853832 GRCh38 Chromosome X, 129562624: 129562624
16 OCRL NM_000276.3(OCRL): c.1115T> G (p.Val372Gly) single nucleotide variant not provided rs137853834 GRCh37 Chromosome X, 128696634: 128696634
17 OCRL NM_000276.3(OCRL): c.1115T> G (p.Val372Gly) single nucleotide variant not provided rs137853834 GRCh38 Chromosome X, 129562657: 129562657
18 OCRL NM_000276.3(OCRL): c.1117A> T (p.Asn373Tyr) single nucleotide variant not provided rs137853835 GRCh37 Chromosome X, 128696636: 128696636
19 OCRL NM_000276.3(OCRL): c.1117A> T (p.Asn373Tyr) single nucleotide variant not provided rs137853835 GRCh38 Chromosome X, 129562659: 129562659
20 OCRL NM_000276.3(OCRL): c.1121C> T (p.Ser374Phe) single nucleotide variant not provided rs137853836 GRCh37 Chromosome X, 128696640: 128696640
21 OCRL NM_000276.3(OCRL): c.1121C> T (p.Ser374Phe) single nucleotide variant not provided rs137853836 GRCh38 Chromosome X, 129562663: 129562663
22 OCRL NM_000276.3(OCRL): c.1123C> T (p.His375Tyr) single nucleotide variant not provided rs137853848 GRCh37 Chromosome X, 128696642: 128696642
23 OCRL NM_000276.3(OCRL): c.1123C> T (p.His375Tyr) single nucleotide variant not provided rs137853848 GRCh38 Chromosome X, 129562665: 129562665
24 OCRL NM_000276.3(OCRL): c.1241A> G (p.His414Arg) single nucleotide variant not provided rs137853837 GRCh37 Chromosome X, 128696760: 128696760
25 OCRL NM_000276.3(OCRL): c.1241A> G (p.His414Arg) single nucleotide variant not provided rs137853837 GRCh38 Chromosome X, 129562783: 129562783
26 OCRL NM_000276.3(OCRL): c.1262G> A (p.Gly421Glu) single nucleotide variant not provided rs137853855 GRCh37 Chromosome X, 128699766: 128699766
27 OCRL NM_000276.3(OCRL): c.1262G> A (p.Gly421Glu) single nucleotide variant not provided rs137853855 GRCh38 Chromosome X, 129565789: 129565789
28 OCRL NM_000276.3(OCRL): c.1270A> G (p.Asn424Asp) single nucleotide variant not provided rs137853856 GRCh37 Chromosome X, 128699774: 128699774
29 OCRL NM_000276.3(OCRL): c.1270A> G (p.Asn424Asp) single nucleotide variant not provided rs137853856 GRCh38 Chromosome X, 129565797: 129565797
30 OCRL NM_000276.3(OCRL): c.1351G> A (p.Asp451Asn) single nucleotide variant Uncertain significance rs137853838 GRCh37 Chromosome X, 128699855: 128699855
31 OCRL NM_000276.3(OCRL): c.1351G> A (p.Asp451Asn) single nucleotide variant Uncertain significance rs137853838 GRCh38 Chromosome X, 129565878: 129565878
32 OCRL NM_000276.3(OCRL): c.1352A> G (p.Asp451Gly) single nucleotide variant not provided rs137853850 GRCh37 Chromosome X, 128699856: 128699856
33 OCRL NM_000276.3(OCRL): c.1352A> G (p.Asp451Gly) single nucleotide variant not provided rs137853850 GRCh38 Chromosome X, 129565879: 129565879
34 OCRL NM_000276.3(OCRL): c.1369C> G (p.Arg457Gly) single nucleotide variant not provided rs137853839 GRCh37 Chromosome X, 128701243: 128701243
35 OCRL NM_000276.3(OCRL): c.1369C> G (p.Arg457Gly) single nucleotide variant not provided rs137853839 GRCh38 Chromosome X, 129567266: 129567266
36 OCRL NM_000276.3(OCRL): c.1388T> C (p.Phe463Ser) single nucleotide variant not provided rs137853851 GRCh37 Chromosome X, 128701262: 128701262
37 OCRL NM_000276.3(OCRL): c.1388T> C (p.Phe463Ser) single nucleotide variant not provided rs137853851 GRCh38 Chromosome X, 129567285: 129567285
38 OCRL NM_000276.3(OCRL): c.1402G> A (p.Glu468Lys) single nucleotide variant not provided rs137853840 GRCh37 Chromosome X, 128701276: 128701276
39 OCRL NM_000276.3(OCRL): c.1402G> A (p.Glu468Lys) single nucleotide variant not provided rs137853840 GRCh38 Chromosome X, 129567299: 129567299
40 OCRL NM_000276.3(OCRL): c.1403A> G (p.Glu468Gly) single nucleotide variant not provided rs137853841 GRCh37 Chromosome X, 128701277: 128701277
41 OCRL NM_000276.3(OCRL): c.1403A> G (p.Glu468Gly) single nucleotide variant not provided rs137853841 GRCh38 Chromosome X, 129567300: 129567300
42 OCRL NM_000276.3(OCRL): c.1493G> A (p.Cys498Tyr) single nucleotide variant not provided rs137853857 GRCh37 Chromosome X, 128703267: 128703267
43 OCRL NM_000276.3(OCRL): c.1493G> A (p.Cys498Tyr) single nucleotide variant not provided rs137853857 GRCh38 Chromosome X, 129569290: 129569290
44 OCRL NM_000276.3(OCRL): c.1495G> C (p.Asp499His) single nucleotide variant not provided rs137853842 GRCh37 Chromosome X, 128703269: 128703269
45 OCRL NM_000276.3(OCRL): c.1495G> C (p.Asp499His) single nucleotide variant not provided rs137853842 GRCh38 Chromosome X, 129569292: 129569292
46 OCRL NM_000276.3(OCRL): c.1507T> C (p.Trp503Arg) single nucleotide variant not provided rs137853843 GRCh37 Chromosome X, 128703281: 128703281
47 OCRL NM_000276.3(OCRL): c.1507T> C (p.Trp503Arg) single nucleotide variant not provided rs137853843 GRCh38 Chromosome X, 129569304: 129569304
48 OCRL NM_000276.3(OCRL): c.1523T> A (p.Val508Asp) single nucleotide variant not provided rs137853849 GRCh37 Chromosome X, 128703297: 128703297
49 OCRL NM_000276.3(OCRL): c.1523T> A (p.Val508Asp) single nucleotide variant not provided rs137853849 GRCh38 Chromosome X, 129569320: 129569320
50 OCRL NM_000276.3(OCRL): c.1538A> G (p.Tyr513Cys) single nucleotide variant not provided rs137853847 GRCh37 Chromosome X, 128703312: 128703312
Sources

Expression for Lowe Oculocerebrorenal Syndrome

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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:

37
# 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 66
Show member pathways
 13.56 GALK1 INPP5B INPP5E INPP5J LRP2 NAGLU
2
Glycerophospholipid biosynthesis 66
Show member pathways
 12.29 INPP5E INPP5J OCRL SYNJ1
3
superpathway of inositol phosphate compounds 1
Show member pathways
 11.95 INPP5B INPP5E INPP5J OCRL SYNJ1
4
Clathrin-mediated endocytosis 66
Show member pathways
 11.92 LRP2 OCRL SYNJ1
5
PI Metabolism 66
Show member pathways
 11.72 INPP5E INPP5J OCRL SYNJ1
6
Inositol phosphate metabolism 66
Show member pathways
 10.97 INPP5B INPP5J OCRL SYNJ1
Sources

GO Terms for Lowe Oculocerebrorenal Syndrome

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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

Sources for Lowe Oculocerebrorenal Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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