OCRL
MCID: LWC002
MIFTS: 66

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 56 12 52 25 73 39
Lowe Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6
Oculocerebrorenal Syndrome 12 74 24 52 25 43 15 71
Oculocerebrorenal Syndrome of Lowe 12 24 25 58
Ocrl 56 52 58 73
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 56 52
Ocrl1 56 52
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 25
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 58
Lowe Oculo-Cerebro-Renal Dystrophy 58
Lowe Oculo-Cerebro-Renal Syndrome 58
Chromosome 11p Deletion Syndrome 71
Lowe Oculocerebrorenal Dystrophy 58
Cerebrooculorenal Syndrome 25
Lowe Disease 58
Low 74

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
lowe oculocerebrorenal syndrome:
Clinical modifier death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance is complete, with variability in severity of phenotype in affected males within any given family.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1056
OMIM 56 309000
KEGG 36 H00692
MeSH 43 D009800
NCIt 49 C84940
SNOMED-CT 67 79385002
ICD10 32 E72.03
MESH via Orphanet 44 D009800
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C0028860
Orphanet 58 ORPHA534
UMLS 71 C0028860 C0812435

Summaries for Lowe Oculocerebrorenal Syndrome

Genetics Home Reference : 25 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes. Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking. Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).

MalaCards based summary : Lowe Oculocerebrorenal Syndrome, also known as lowe syndrome, is related to dent disease 2 and nephrocalcinosis, 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 Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and eye, and related phenotypes are intellectual disability and nystagmus

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.

NIH Rare Diseases : 52 Lowe oculocerebrorenal syndrome is a rare condition that primarily affects the eyes, central nervous system and kidneys. Some of the signs and symptoms associated with the condition are often present from birth, including congenital cataracts and other eye abnormalities; hypotonia (reduced muscle tone); and feeding difficulties. Affected people may also experience kidney problems (such as Fanconi syndrome ), infantile glaucoma , impaired vision, developmental delay , intellectual disability , behavioral problems, seizures and short stature . Lowe oculocerebrorenal syndrome occurs almost exclusively in males. The condition is caused by changes (mutations ) in the OCRL and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.

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

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

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

More information from OMIM: 309000
GeneReviews: NBK1480

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 5568)
# Related Disease Score Top Affiliating Genes
1 dent disease 2 33.5 OCRL INPP5B
2 nephrocalcinosis 32.6 OCRL LRP2 CLCN5
3 dent disease 1 32.5 RAB5A PHETA1 OCRL LRP2 INPP5E INPP5B
4 nephrolithiasis, calcium oxalate 32.3 OCRL NAGLU LRP2 CLCN5
5 fanconi-like syndrome 32.3 OCRL LRP2
6 ablepharon-macrostomia syndrome 32.2 OCRL CFAP47
7 donnai-barrow syndrome 32.1 OCRL LRP2 CLCN5
8 renal tubular transport disease 32.1 OCRL LRP2 CLCN5
9 lens disease 32.1 OCRL GALK1 CRYAA
10 legionnaire disease 32.0 RAB5A RAB35 OCRL
11 aminoaciduria 32.0 OCRL CLCN5
12 x-linked recessive disease 31.9 OCRL INPP5B CRYAA CLCN5
13 x-linked monogenic disease 31.9 OCRL CRYAA CLCN5 CFAP47
14 fanconi syndrome 30.1 OCRL NAGLU LRP2 INPP5E CLCN5
15 idiopathic hypercalciuria 29.9 NAGLU CLCN5
16 amyotrophic lateral sclerosis 1 29.6 SYNJ2 SYNJ1 SACM1L RAB5A INPP5B CRYAA
17 charcot-marie-tooth disease 29.2 SYNJ1 RAB5A NAGLU CRYAA CFAP47
18 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.5
19 polymorphous low-grade adenocarcinoma 12.4
20 low compliance bladder 12.3
21 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.3
22 low density lipoprotein cholesterol level quantitative trait locus 7 12.3
23 low density lipoprotein cholesterol level quantitative trait locus 8 12.3
24 ovarian low malignant potential tumor 12.2
25 low-grade astrocytoma 12.2
26 low-flow priapism 12.2
27 multilocular cystic renal neoplasm of low malignant potential 12.2
28 low density lipoprotein, variation in molecular weight of 12.2
29 nail low-sulfur protein 12.2
30 immunoglobulin d level in plasma, low 12.2
31 low implantation of placenta 12.2
32 low density lipoprotein cholesterol level quantitative trait locus 6 12.2
33 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 12.1
34 low-grade neuroendocrine tumor of the corpus uteri 12.1
35 dna, low-repetitive sequences of 12.1
36 hypogonadism with low-grade mental deficiency and microcephaly 12.1
37 low density lipoprotein cholesterol, mild elevation of 12.1
38 low isolated anorectal malformation 12.1
39 obsolete: low-grade ependymoma 12.1
40 obsolete: low birth weight-dwarfism-dysgammaglobulinemia syndrome 12.1
41 hypoalphalipoproteinemia, primary, 1 11.9
42 kowarski syndrome 11.9
43 gallbladder disease 1 11.9
44 zinc deficiency, transient neonatal 11.9
45 non-invasive bladder papillary urothelial neoplasm 11.8
46 deafness, autosomal dominant 1 11.8
47 hellp syndrome 11.8
48 familial hypercholesterolemia 11.8
49 glaucoma, normal tension 11.8
50 hypogonadotropic hypogonadism 23 without anosmia 11.7

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:

58 31 (show top 50) (show all 145)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 depressivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000716
4 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
5 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
6 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
7 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
8 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
9 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
10 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
11 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
12 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
13 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
14 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
15 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
16 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
17 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
18 amblyopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000646
19 proximal renal tubular acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002049
20 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
21 abnormal pupil morphology 31 hallmark (90%) HP:0000615
22 abnormal renal tubule morphology 31 hallmark (90%) HP:0000091
23 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
24 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
25 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
26 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
27 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
28 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
29 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
30 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
31 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
32 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
33 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
34 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
35 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
36 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
37 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
38 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
39 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
40 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
41 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
42 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
43 obsessive-compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000722
44 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
45 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
46 buphthalmos 58 31 frequent (33%) Frequent (79-30%) HP:0000557
47 hyperparathyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000843
48 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
49 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
50 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749

Symptoms via clinical synopsis from OMIM:

56
Skeletal Limbs:
genu valgum

Skeletal Spine:
scoliosis
kyphosis
platyspondyly

Growth Height:
short stature

Neurologic Central Nervous System:
neonatal hypotonia
areflexia
ventriculomegaly
periventricular cysts
mental retardation (in some)
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

Abdomen Gastrointestinal:
constipation

Genitourinary Internal Genitalia Male:
cryptorchidism

Laboratory Abnormalities:
proteinuria
aminoaciduria
elevated serum acid phosphatase
bicarbonaturia
phosphaturia
more
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.22 GALK1
2 Decreased viability GR00240-S-1 10.22 GALK1
3 Decreased viability GR00381-A-1 10.22 ARHGAP1
4 Decreased viability GR00402-S-2 10.22 ARHGAP1 CFAP47 CLCN5 CRYAA GALK1 HYDIN
5 no effect GR00402-S-1 9.62 ARHGAP1 CFAP47 CLCN5 CRYAA GALK1 HYDIN
6 Increased Erk phosphorylation after EGF stimulation GR00204-A-1 8.96 INPP5A INPP5E

MGI Mouse Phenotypes related to Lowe Oculocerebrorenal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 ARHGAP1 CLCN5 HYDIN INPP5A INPP5B INPP5E
2 renal/urinary system MP:0005367 9.5 ARHGAP1 CLCN5 INPP5B INPP5E LRP2 NAGLU
3 vision/eye MP:0005391 9.23 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical 7440-70-2 271
2 Hemostatics
3 Hormones
4 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mutation Detection for Lowe Syndrome Completed NCT00359515
2 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Observed in Patients With Lowe Syndrome Completed NCT01314560
3 Screening for Dent Disease Mutations in Patients With Proteinuria Completed NCT01783795
4 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
5 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis Enrolling by invitation NCT01127854

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 29 OCRL

Anatomical Context for Lowe Oculocerebrorenal Syndrome

MalaCards organs/tissues related to Lowe Oculocerebrorenal Syndrome:

40
Kidney, Bone, Eye, Heart, Breast, B Cells, T Cells

Publications for Lowe Oculocerebrorenal Syndrome

Articles related to Lowe Oculocerebrorenal Syndrome:

(show top 50) (show all 338)
# Title Authors PMID Year
1
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. 54 61 24 56
12428211 2002
2
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. 54 61 24 56
9430698 1998
3
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 54 61 24 6
8504307 1993
4
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 61 24 56
16955230 2006
5
Molecular confirmation of carriers for Lowe syndrome. 61 24 56
9917791 1999
6
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 61 24 56
1897526 1991
7
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. 61 24 56
2895982 1988
8
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. 61 24 56
3953680 1986
9
First report of prenatal biochemical diagnosis of Lowe syndrome. 54 61 56
9854717 1998
10
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. 24 56
8488875 1993
11
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. 24 56
2017228 1991
12
OCRL1 function in renal epithelial membrane traffic. 54 61 24
19940034 2010
13
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. 54 61 24
19582483 2009
14
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. 54 61 24
19390221 2009
15
Dent Disease with mutations in OCRL1. 54 61 24
15627218 2005
16
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. 54 61 24
15353600 2004
17
Lowe Syndrome 61 6
20301653 2001
18
Unusual renal features of Lowe syndrome in a mildly affected boy. 61 56
11146467 2000
19
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. 54 61 24
10767176 2000
20
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. 54 61 24
10923037 2000
21
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. 54 61 24
10364518 1999
22
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 54 61 24
7761412 1995
23
Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. 61 56
2068096 1991
24
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 61 56
2081601 1990
25
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. 61 56
2912070 1989
26
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. 61 56
2878939 1987
27
Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome. 61 56
7180850 1982
28
Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. 61 56
894443 1977
29
[Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)]. 61 56
13863302 1961
30
[Ocular manifestations of Lowe syndrome]. 61 56
13553275 1958
31
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. 61 24
30590522 2019
32
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. 61 24
28516463 2018
33
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. 61 24
27708066 2018
34
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 61 24
28669993 2017
35
Gonadotrophin abnormalities in an infant with Lowe syndrome. 61 24
28469921 2017
36
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. 61 24
27178641 2017
37
The oculocerebrorenal syndrome of Lowe: an update. 61 24
27011217 2016
38
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. 61 24
25480730 2015
39
Lowe syndrome: a single center's experience in Korea. 61 24
24778696 2014
40
OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin. 61 24
21971085 2011
41
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. 61 24
21031565 2011
42
Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. 61 24
20629659 2010
43
Dent-2 disease: a mild variant of Lowe syndrome. 61 24
19559295 2009
44
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. 61 24
18480301 2008
45
Early proximal tubular dysfunction in Lowe's syndrome. 54 24
15102646 2004
46
Dental findings in Lowe syndrome. 61 24
10633515 1999
47
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. 6
9632163 1998
48
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. 56
8599350 1995
49
Tenosynovitis in Lowe syndrome. 61 24
6644416 1983
50
Lowe's syndrome. 56
6890859 1982

Variations for Lowe Oculocerebrorenal Syndrome

ClinVar genetic disease variations for Lowe Oculocerebrorenal Syndrome:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OCRL NC_000023.11:g.(129551601)_129559858deldeletion Pathogenic 208009
2 OCRL NC_000023.11:g.(?_126549383)_(129592556_?)deldeletion Pathogenic 208017 X:126549383-129592556
3 OCRL NM_000276.3(OCRL):c.-165-?_199+?deldeletion Pathogenic 208015
4 OCRL NM_000276.3(OCRL):c.-165-?_238+?deldeletion Pathogenic 208016
5 OCRL NM_000276.3(OCRL):c.-165-?_*2286+?deldeletion Pathogenic 208011
6 OCRL deletion Pathogenic 208010 X:128692865-128697110 X:129558888-129563133
7 OCRL undetermined variant Pathogenic 208008
8 OCRL OCRL:exon 6-12 deldeletion Pathogenic 208014
9 OCRL OCRL, 112-BP DELdeletion Pathogenic 10856
10 OCRL NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)SNV Pathogenic 10857 rs387906484 X:128723882-128723882 X:129589905-129589905
11 OCRL NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)SNV Pathogenic 10858 rs137853260 X:128703273-128703273 X:129569296-129569296
12 OCRL NM_000276.4(OCRL):c.1572C>G (p.His524Gln)SNV Pathogenic 10859 rs137853261 X:128703346-128703346 X:129569369-129569369
13 OCRL NM_000276.4(OCRL):c.940-11G>ASNV Pathogenic 279859 rs776743373 X:128696350-128696350 X:129562373-129562373
14 OCRL NM_000276.4(OCRL):c.239-4023A>GSNV Pathogenic 370030 rs1057515577 X:128687279-128687279 X:129553302-129553302
15 OCRL NM_000276.4(OCRL):c.860dup (p.Tyr288fs)duplication Pathogenic 457993 rs1556345889 X:128695189-128695190 X:129561212-129561213
16 OCRL NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)SNV Pathogenic 500705 rs1556346316 X:128696421-128696421 X:129562444-129562444
17 OCRL NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)SNV Pathogenic 521093 rs1182741031 X:128709135-128709135 X:129575158-129575158
18 OCRL NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)SNV Pathogenic 594148 rs1569463775 X:128722949-128722949 X:129588972-129588972
19 OCRL NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs)short repeat Pathogenic 638866 X:128692930-128692931 X:129558953-129558954
20 OCRL NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer)short repeat Pathogenic 650887 X:128701314-128701315 X:129567337-129567338
21 OCRL NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)SNV Pathogenic 641377 X:128722985-128722985 X:129589008-129589008
22 OCRL NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)SNV Pathogenic 567454 rs935956958 X:128722910-128722910 X:129588933-129588933
23 OCRL NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)SNV Pathogenic 666558 X:128703272-128703272 X:129569295-129569295
24 OCRL NM_000276.4(OCRL):c.1979A>C (p.His660Pro)SNV Pathogenic 689471 X:128710393-128710393 X:129576416-129576416
25 OCRL NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)SNV Pathogenic 689472 X:128710321-128710321 X:129576344-129576344
26 OCRL NM_000276.4(OCRL):c.560+1G>CSNV Likely pathogenic 578751 rs1569458883 X:128692731-128692731 X:129558754-129558754
27 OCRL NM_000276.4(OCRL):c.1244+1338_1366deldeletion Likely pathogenic 642337 X:128698100-128701239 X:129564123-129567262
28 OCRL NM_000276.4(OCRL):c.2470-1G>ASNV Likely pathogenic 657548 X:128723821-128723821 X:129589844-129589844
29 OCRL NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)SNV Likely pathogenic 10861 rs137853263 X:128696373-128696373 X:129562396-129562396
30 OCRL NM_000276.4(OCRL):c.40-5C>TSNV Uncertain significance 211780 rs201211377 X:128674716-128674716 X:129540739-129540739
31 OCRL NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn)SNV Uncertain significance 68706 rs137853838 X:128699855-128699855 X:129565878-129565878
32 OCRL NM_000276.4(OCRL):c.1467-3C>GSNV Uncertain significance 664335 X:128703238-128703238 X:129569261-129569261
33 OCRL NM_000276.4(OCRL):c.746T>G (p.Val249Gly)SNV Uncertain significance 651071 X:128694550-128694550 X:129560573-129560573
34 OCRL NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)SNV Uncertain significance 647197 X:128701244-128701244 X:129567267-129567267
35 OCRL NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter)SNV Uncertain significance 527798 rs1556359544 X:128724176-128724176 X:129590199-129590199
36 OCRL NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro)SNV Uncertain significance 579629 rs1569460215 X:128701241-128701241 X:129567264-129567264
37 OCRL NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu)SNV Uncertain significance 568253 rs1569460717 X:128703288-128703288 X:129569311-129569311
38 OCRL NM_000276.4(OCRL):c.1602G>A (p.Gly534=)SNV Uncertain significance 457991 rs773214157 X:128703376-128703376 X:129569399-129569399
39 OCRL NM_000276.4(OCRL):c.439+3A>GSNV Benign/Likely benign 92725 rs61752971 X:128691930-128691930 X:129557953-129557953
40 OCRL NM_000276.4(OCRL):c.40-80dupduplication Benign 804084 X:128674631-128674632 X:129540654-129540655
41 OCRL NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)SNV not provided 68707 rs137853850 X:128699856-128699856 X:129565879-129565879
42 OCRL NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)SNV not provided 68708 rs137853839 X:128701243-128701243 X:129567266-129567266
43 OCRL NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)SNV not provided 68709 rs137853851 X:128701262-128701262 X:129567285-129567285
44 OCRL NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)SNV not provided 68710 rs137853840 X:128701276-128701276 X:129567299-129567299
45 OCRL NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)SNV not provided 68711 rs137853841 X:128701277-128701277 X:129567300-129567300
46 OCRL NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)SNV not provided 68713 rs137853857 X:128703267-128703267 X:129569290-129569290
47 OCRL NM_000276.4(OCRL):c.1495G>C (p.Asp499His)SNV not provided 68714 rs137853842 X:128703269-128703269 X:129569292-129569292
48 OCRL NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)SNV not provided 68715 rs137853843 X:128703281-128703281 X:129569304-129569304
49 OCRL NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)SNV not provided 68716 rs137853849 X:128703297-128703297 X:129569320-129569320
50 OCRL NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)SNV not provided 68717 rs137853847 X:128703312-128703312 X:129569335-129569335

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

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

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:

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 SYNJ2 SYNJ1 SACM1L RAB5A OCRL NAGLU
2
Show member pathways
12.59 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPPL1
3
Show member pathways
12.2 SYNJ2 SYNJ1 SACM1L OCRL INPPL1 INPP5J
4
Show member pathways
12.09 SYNJ2 SYNJ1 RAB5A OCRL LRP2
5
Show member pathways
11.69 SYNJ1 OCRL INPPL1 INPP5J INPP5B INPP5A
6
Show member pathways
11.49 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPPL1

GO Terms for Lowe Oculocerebrorenal Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.93 RAB5A RAB35 PHETA1 OCRL INPP5B
2 early endosome GO:0005769 9.8 RAB5A PHETA1 OCRL CLCN5
3 cell projection GO:0042995 9.8 SYNJ2 RAB5A OCRL LRP2 INPPL1 INPP5E
4 cytosol GO:0005829 9.8 SYNJ2 SYNJ1 RAB5A RAB35 PHETA1 OCRL
5 endosome membrane GO:0010008 9.76 RAB5A RAB35 CLCN5 ARHGAP1
6 Golgi apparatus GO:0005794 9.76 SACM1L PHETA1 OCRL LRP2 INPPL1 INPP5E
7 early endosome membrane GO:0031901 9.7 RAB5A OCRL INPP5B
8 ruffle GO:0001726 9.69 RAB5A INPP5J INPP5E
9 phagocytic vesicle membrane GO:0030670 9.61 RAB5A OCRL INPP5B
10 clathrin-coated vesicle GO:0030136 9.58 RAB35 PHETA1 OCRL
11 clathrin-coated pit GO:0005905 9.54 RAB35 OCRL LRP2
12 clathrin-coated vesicle membrane GO:0030665 9.5 RAB5A RAB35 LRP2
13 anchored component of synaptic vesicle membrane GO:0098993 9.48 RAB5A RAB35
14 endosome GO:0005768 9.17 RAB5A RAB35 PHETA1 OCRL LRP2 INPP5B

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol biosynthetic process GO:0006661 9.76 SYNJ2 SYNJ1 SACM1L RAB5A OCRL INPPL1
2 inositol phosphate metabolic process GO:0043647 9.73 SYNJ1 OCRL INPPL1 INPP5J INPP5B INPP5A
3 membrane organization GO:0061024 9.72 SYNJ2 SYNJ1 RAB5A OCRL LRP2
4 endocytosis GO:0006897 9.67 SYNJ1 RAB5A LRP2 INPPL1
5 regulation of small GTPase mediated signal transduction GO:0051056 9.61 OCRL INPP5B ARHGAP1
6 inositol phosphate dephosphorylation GO:0046855 9.5 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B
7 phosphatidylinositol metabolic process GO:0046488 9.4 SYNJ1 INPP5E
8 phosphatidylinositol dephosphorylation GO:0046856 9.28 SYNJ2 SYNJ1 SACM1L OCRL INPPL1 INPP5J

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.1 SYNJ2 SYNJ1 SACM1L OCRL NAGLU INPPL1
2 SH3 domain binding GO:0017124 9.73 SYNJ2 SYNJ1 LRP2 INPPL1 INPP5J ARHGAP1
3 phosphoric ester hydrolase activity GO:0042578 9.54 SYNJ2 SYNJ1 SACM1L
4 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.5 OCRL INPP5J INPP5A
5 phosphatidylinositol-3-phosphatase activity GO:0004438 9.49 SYNJ1 SACM1L
6 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.48 SYNJ1 SACM1L
7 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.46 SYNJ2 SYNJ1
8 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.46 OCRL INPP5J INPP5E INPP5A
9 inositol phosphate phosphatase activity GO:0052745 9.43 OCRL INPP5B
10 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.35 SYNJ1 OCRL INPP5J INPP5B INPP5A
11 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.1 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B

Sources for Lowe Oculocerebrorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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