OCRL
MCID: LWC002
MIFTS: 67

Lowe Oculocerebrorenal Syndrome (OCRL)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lowe Oculocerebrorenal Syndrome

MalaCards integrated aliases for Lowe Oculocerebrorenal Syndrome:

Name: Lowe Oculocerebrorenal Syndrome 57 11 19 42 73 38 33
Lowe Syndrome 57 11 24 19 42 58 75 73 28 12 53 5 33
Oculocerebrorenal Syndrome 11 24 19 42 75 43 14 71 33
Oculocerebrorenal Syndrome of Lowe 11 24 42 58
Ocrl 57 19 58 73
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 57 19
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency 58 33
Lowe Disease 58 33
Ocrl1 57 19
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency 42
Ocrl1 - [oculocerebrorenal Syndrome] 33
Lowe Oculo-Cerebro-Renal Dystrophy 58
Lowe Oculo-Cerebro-Renal Syndrome 58
Chromosome 11p Deletion Syndrome 71
Lowe Oculocerebrorenal Dystrophy 58
Lowe-Terrey-Maclachlan Syndrome 33
Cerebro-Oculorenal Dystrophy 33
Oculocerebrorenal Dystrophy 33
Renal-Oculocerebrodystrophy 33
Cerebrooculorenal Syndrome 42
Low 75

Characteristics:


Inheritance:

Lowe Oculocerebrorenal Syndrome: X-linked recessive 57
Oculocerebrorenal Syndrome of Lowe: X-linked recessive 58

Prevelance:

Oculocerebrorenal Syndrome of Lowe: 1-9/1000000 (Europe, United Kingdom) 58

Age Of Onset:

Oculocerebrorenal Syndrome of Lowe: Neonatal 58

Age Of Death:

Oculocerebrorenal Syndrome of Lowe: adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract


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 11 DOID:1056
OMIM® 57 309000
MeSH 43 D009800
NCIt 49 C84940
SNOMED-CT 68 79385002
MESH via Orphanet 44 D009800
ICD10 via Orphanet 32 E72.0
UMLS via Orphanet 72 C0028860
Orphanet 58 ORPHA534
ICD11 33 1392767390
UMLS 71 C0028860 C0812435

Summaries for Lowe Oculocerebrorenal Syndrome

MedlinePlus Genetics: 42 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 1 and dent disease 2, 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 Metabolism and Vesicle-mediated transport. The drug Hemostatics has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are intellectual disability and nystagmus

UniProtKB/Swiss-Prot: 73 X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, intellectual disability, 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.

GARD: 19 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 in the OCRL and is inherited in an X-linked recessive manner.

OMIM®: 57 Lowe oculocerebrorenal syndrome (OCRL) is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, severely impaired intellectual development, and renal tubular dysfunction with slowly progressive renal failure. Other features include postnatal growth retardation independent of kidney function, areflexia, nontender joint swelling, subcutaneous nodules, and arthropathy, which can be observed in about 50% of adult patients (review by Bokenkamp and Ludwig, 2016). (309000) (Updated 24-Oct-2022)

Disease Ontology: 11 A syndrome that has material basis in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.

Orphanet: 58 A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

Wikipedia: 75 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...

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 6673)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 32.2 PHETA1 OCRL LRP2 INPP5B CLCN5
2 dent disease 2 32.2 OCRL INPP5B
3 donnai-barrow syndrome 31.6 OCRL LRP2 CLCN5
4 renal tubular transport disease 31.6 OCRL LRP2 CLCN5
5 alport syndrome 31.6 OCRL LRP2 CRYAA CLCN5
6 ablepharon-macrostomia syndrome 31.6 OCRL CFAP47
7 cystinosis 31.6 OCRL LRP2 CLCN5
8 legionnaire disease 31.6 RAB5A RAB35 OCRL
9 lens disease 31.5 OCRL GALK1 CRYAA
10 hypophosphatemic rickets with hypercalciuria, hereditary 31.5 OCRL CLCN5
11 legionellosis 31.5 RAB5A RAB35 OCRL
12 joubert syndrome 1 31.5 SYNJ2 SYNJ1 OCRL INPP5E INPP5B
13 aminoaciduria 31.4 OCRL CLCN5
14 yunis-varon syndrome 31.0 SYNJ2 SYNJ1 INPP5B
15 fanconi syndrome 30.3 OCRL NAGLU LRP2 INPP5B CLCN5
16 charcot-marie-tooth disease 29.5 SYNJ1 RAB5A NAGLU INPP5B CRYAA CFAP47
17 cerebral degeneration 29.2 HYDIN CRYAA CFAP47
18 back pain 11.5
19 hypolipoproteinemia 11.5
20 hellp syndrome 11.4
21 gallbladder disease 1 11.3
22 placenta praevia 11.3
23 glaucoma, normal tension 11.3
24 kowarski syndrome 11.3
25 bone mineral density quantitative trait locus 3 11.3
26 tatton-brown-rahman syndrome 11.3
27 polymorphous low-grade adenocarcinoma 11.3
28 diffuse astrocytoma 11.2
29 open-angle glaucoma 11.2
30 low grade glioma 11.2
31 zinc deficiency, transient neonatal 11.2
32 palmer pagon syndrome 11.2
33 deafness, autosomal dominant 1, with or without thrombocytopenia 11.2
34 microcephalic osteodysplastic primordial dwarfism, type i 11.2
35 low compliance bladder 11.2
36 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.2
37 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 11.2
38 squalene synthase deficiency 11.2
39 hypogonadotropic hypogonadism 23 with or without anosmia 11.1
40 viljoen kallis voges syndrome 11.1
41 major depressive disorder 11.1
42 ovarian low malignant potential tumor 11.1
43 low-grade neuroendocrine tumor of the corpus uteri 11.1
44 non-invasive bladder papillary urothelial neoplasm 11.1
45 t2-low asthma 11.1
46 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.1
47 myelodysplastic syndrome 11.1
48 renal tubular acidosis 11.1
49 pulmonary embolism 11.1
50 pre-eclampsia 11.1

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 30 (show top 50) (show all 151)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 nystagmus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000639
3 cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000518
4 neonatal hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001319
5 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
6 proteinuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000093
7 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001944
8 aminoaciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003355
9 renal insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000083
10 anxiety 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000739
11 abnormal renal tubule morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000091
12 glomerulopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100820
13 abnormal pupil morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000615
14 amblyopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000646
15 areflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001284
16 abnormality of the voice 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001608
17 proximal renal tubular acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002049
18 hypercalciuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002150
19 hyponatremia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002902
20 aphasia 30 Hallmark (90%) HP:0002381
21 motor stereotypy 30 Hallmark (90%) HP:0000733
22 depression 30 Hallmark (90%) HP:0000716
23 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
24 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
25 clonus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002169
26 eeg abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0002353
27 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
28 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
29 self-injurious behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0100716
30 arthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001369
31 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
32 hypokalemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002900
33 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
34 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
35 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
36 thrombocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001873
37 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
38 obsessive-compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000722
39 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
40 protruding ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000411
41 deeply set eye 58 30 Frequent (33%) Frequent (79-30%)
HP:0000490
42 buphthalmos 58 30 Frequent (33%) Frequent (79-30%)
HP:0000557
43 hyperparathyroidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000843
44 joint swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0001386
45 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
46 sparse scalp hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002209
47 fine hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002213
48 osteomalacia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002749
49 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
50 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
constipation

Growth Height:
short stature

Skeletal Limbs:
genu valgum

Skeletal:
joint hypermobility
osteomalacia
pathologic fractures
renal rickets

Metabolic Features:
proximal renal tubular acidosis
renal fanconi syndrome

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

Head And Neck Teeth:
enamel hypoplasia
dental cysts

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

Skeletal Spine:
scoliosis
kyphosis
platyspondyly

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

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

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

Genitourinary Kidneys:
renal failure

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

Clinical features from OMIM®:

309000 (Updated 24-Oct-2022)

UMLS symptoms related to Lowe Oculocerebrorenal Syndrome:


constipation

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 APPL1 ARHGAP1 CDKN3 CFAP47 CLCN5 CRYAA
2 no effect GR00402-S-2 10.2 APPL1 ARHGAP1 CFAP47 CLCN5 GALK1 HYDIN

MGI Mouse Phenotypes related to Lowe Oculocerebrorenal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.77 APPL1 ARHGAP1 CLCN5 HYDIN INPP5B INPP5E
2 vision/eye MP:0005391 9.32 CRYAA GALK1 INPP5B INPP5E LRP2 NAGLU

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 Hemostatics

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 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 28 OCRL

Anatomical Context for Lowe Oculocerebrorenal Syndrome

Organs/tissues related to Lowe Oculocerebrorenal Syndrome:

MalaCards : Eye, Kidney, Brain, Skin, Temporal Lobe, Bone, Breast

Publications for Lowe Oculocerebrorenal Syndrome

Articles related to Lowe Oculocerebrorenal Syndrome:

(show top 50) (show all 545)
# Title Authors PMID Year
1
Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction. 62 57 5
32712215 2020
2
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. 53 62 24 5
19390221 2009
3
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. 53 62 24 57
12428211 2002
4
Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. 53 62 24 5
10767176 2000
5
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. 53 62 24 5
10923037 2000
6
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. 53 62 24 57
9430698 1998
7
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. 53 62 24 5
8504307 1993
8
The oculocerebrorenal syndrome of Lowe: an update. 62 24 57
27011217 2016
9
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. 62 24 5
21031565 2011
10
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. 62 24 57
16955230 2006
11
Molecular confirmation of carriers for Lowe syndrome. 62 24 57
9917791 1999
12
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe. 62 24 57
8488875 1993
13
Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 62 24 57
1897526 1991
14
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. 62 24 57
2017228 1991
15
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. 62 24 57
2895982 1988
16
A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. 62 24 57
3953680 1986
17
Mutations in OCRL1 gene in Indian children with Lowe syndrome. 53 62 5
18500547 2008
18
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. 53 62 5
17142121 2007
19
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. 53 62 5
11149618 2000
20
First report of prenatal biochemical diagnosis of Lowe syndrome. 53 62 57
9854717 1998
21
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. 53 62 5
9199559 1997
22
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. 62 5
22381590 2012
23
OCRL1 function in renal epithelial membrane traffic. 53 62 24
19940034 2010
24
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. 53 62 24
19582483 2009
25
Dent Disease with mutations in OCRL1. 53 62 24
15627218 2005
26
The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. 53 62 24
15353600 2004
27
Lowe Syndrome 62 5
20301653 2001
28
Unusual renal features of Lowe syndrome in a mildly affected boy. 62 57
11146467 2000
29
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. 53 62 24
10364518 1999
30
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. 62 5
9632163 1998
31
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe. 62 57
8599350 1995
32
The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. 53 62 24
7761412 1995
33
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. 62 57
2068096 1991
34
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 62 57
2081601 1990
35
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. 62 57
2912070 1989
36
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. 62 57
2878939 1987
37
Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome. 62 57
7180850 1982
38
Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome. 62 57
894443 1977
39
Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. 62 57
5763831 1969
40
Oculocerebrorenal syndrome in a female child. 62 57
4951545 1967
41
[Primary tubulopathies. III. A case of oculo-cerebro-renal syndrome (Lowe syndrome)]. 62 57
13863302 1961
42
[Ocular manifestations of Lowe syndrome]. 62 57
13553275 1958
43
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. 62 24
30590522 2019
44
Monogenic causes of chronic kidney disease in adults. 5
30773290 2019
45
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts. 62 24
28516463 2018
46
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. 62 24
27708066 2018
47
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 62 24
28669993 2017
48
Gonadotrophin abnormalities in an infant with Lowe syndrome. 62 24
28469921 2017
49
Multiple protrusive epidermal cysts on the scalp of a Lowe syndrome patient. 62 24
27178641 2017
50
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. 62 24
25480730 2015

Variations for Lowe Oculocerebrorenal Syndrome

ClinVar genetic disease variations for Lowe Oculocerebrorenal Syndrome:

5 (show top 50) (show all 197)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OCRL NM_000276.4(OCRL):c.2470_2581del (p.Val824Leufs*9) DEL Pathogenic
10856 GRCh37:
GRCh38:
2 OCRL NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) SNV Pathogenic
10858 rs137853260 GRCh37: X:128703273-128703273
GRCh38: X:129569296-129569296
3 OCRL NM_000276.4(OCRL):c.1572C>G (p.His524Gln) SNV Pathogenic
10859 rs137853261 GRCh37: X:128703346-128703346
GRCh38: X:129569369-129569369
4 OCRL VAR Pathogenic
208008 GRCh37:
GRCh38:
5 OCRL NC_000023.11:g.(129551601)_129559858del DEL Pathogenic
208009 GRCh37:
GRCh38:
6 OCRL NM_000276.4(OCRL):c.610_1244+348del DEL Pathogenic
208010 GRCh37: X:128692865-128697110
GRCh38: X:129558888-129563133
7 OCRL OCRL:exon 6-12 del DEL Pathogenic
208014 GRCh37:
GRCh38:
8 overlap with 8 genes NC_000023.11:g.(?_126549383)_(129592556_?)del DEL Pathogenic
208017 GRCh37:
GRCh38: X:126549383-129592556
9 OCRL NM_000276.4(OCRL):c.239-4023A>G SNV Pathogenic
370030 rs1057515577 GRCh37: X:128687279-128687279
GRCh38: X:129553302-129553302
10 OCRL NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) SNV Pathogenic
68720 rs137853858 GRCh37: X:128703351-128703351
GRCh38: X:129569374-129569374
11 OCRL NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) SNV Pathogenic
666558 rs398123287 GRCh37: X:128703272-128703272
GRCh38: X:129569295-129569295
12 OCRL NM_000276.4(OCRL):c.1979A>C (p.His660Pro) SNV Pathogenic
689471 rs1602802640 GRCh37: X:128710393-128710393
GRCh38: X:129576416-129576416
13 OCRL NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) SNV Pathogenic
689472 rs1602802472 GRCh37: X:128710321-128710321
GRCh38: X:129576344-129576344
14 OCRL NM_000276.4(OCRL):c.643C>T (p.Gln215Ter) SNV Pathogenic
916550 rs1936103770 GRCh37: X:128692899-128692899
GRCh38: X:129558922-129558922
15 OCRL NM_000276.4(OCRL):c.739del (p.Trp247fs) DEL Pathogenic
1098718 GRCh37: X:128694542-128694542
GRCh38: X:129560565-129560565
16 OCRL NM_000276.4(OCRL):c.659_662del (p.Glu220fs) DEL Pathogenic
1172588 GRCh37: X:128692912-128692915
GRCh38: X:129558935-129558938
17 OCRL NM_000276.4(OCRL):c.2257-2A>T SNV Pathogenic
1172589 GRCh37: X:128722154-128722154
GRCh38: X:129588177-129588177
18 OCRL NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs) MICROSAT Pathogenic
1308675 GRCh37: X:128710337-128710338
GRCh38: X:129576360-129576361
19 OCRL NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn) SNV Pathogenic
1344666 GRCh37: X:128703341-128703341
GRCh38: X:129569364-129569364
20 OCRL NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) SNV Pathogenic
195559 rs794727333 GRCh37: X:128722198-128722198
GRCh38: X:129588221-129588221
21 OCRL NM_000276.4(OCRL):c.663del (p.Leu222fs) DEL Pathogenic
1440540 GRCh37: X:128692919-128692919
GRCh38: X:129558942-129558942
22 OCRL NM_000276.4(OCRL):c.820del (p.Ile274fs) DEL Pathogenic
1389736 GRCh37: X:128694624-128694624
GRCh38: X:129560647-129560647
23 OCRL NM_000276.4(OCRL):c.904G>T (p.Glu302Ter) SNV Pathogenic
1458671 GRCh37: X:128695235-128695235
GRCh38: X:129561258-129561258
24 OCRL NC_000023.10:g.128699748del DEL Pathogenic
1073892 GRCh37: X:128699748-128699748
GRCh38: X:129565771-129565771
25 OCRL NM_000276.4(OCRL):c.860dup (p.Tyr288fs) DUP Pathogenic
457993 rs1556345889 GRCh37: X:128695189-128695190
GRCh38: X:129561212-129561213
26 OCRL NM_000276.4(OCRL):c.2469+1G>A SNV Pathogenic
835463 rs1936553500 GRCh37: X:128722991-128722991
GRCh38: X:129589014-129589014
27 OCRL NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter) SNV Pathogenic
1687290 GRCh37: X:128710401-128710401
GRCh38: X:129576424-129576424
28 OCRL NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) SNV Pathogenic
10857 rs387906484 GRCh37: X:128723882-128723882
GRCh38: X:129589905-129589905
29 OCRL NM_000276.4(OCRL):c.940-11G>A SNV Pathogenic
Pathogenic
279859 rs776743373 GRCh37: X:128696350-128696350
GRCh38: X:129562373-129562373
30 OCRL NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) SNV Pathogenic
500705 rs1556346316 GRCh37: X:128696421-128696421
GRCh38: X:129562444-129562444
31 OCRL NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) SNV Pathogenic
521093 rs1182741031 GRCh37: X:128709135-128709135
GRCh38: X:129575158-129575158
32 OCRL NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) SNV Pathogenic
567454 rs935956958 GRCh37: X:128722910-128722910
GRCh38: X:129588933-129588933
33 OCRL NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) SNV Pathogenic
594148 rs1569463775 GRCh37: X:128722949-128722949
GRCh38: X:129588972-129588972
34 OCRL NM_000276.4(OCRL):c.676_677del (p.Ile226fs) MICROSAT Pathogenic
638866 rs1602782195 GRCh37: X:128692930-128692931
GRCh38: X:129558953-129558954
35 OCRL NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) SNV Pathogenic
641377 rs1602819835 GRCh37: X:128722985-128722985
GRCh38: X:129589008-129589008
36 OCRL NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer) MICROSAT Pathogenic
650887 rs1602791255 GRCh37: X:128701314-128701315
GRCh38: X:129567337-129567338
37 OCRL NM_000276.4(OCRL):c.1753_1755del (p.Glu585del) DEL Pathogenic
846443 rs1936362098 GRCh37: X:128709911-128709913
GRCh38: X:129575934-129575936
38 OCRL NM_000276.4(OCRL):c.1244+1G>A SNV Pathogenic
960576 rs1936163310 GRCh37: X:128696764-128696764
GRCh38: X:129562787-129562787
39 OCRL NM_000276.4(OCRL):c.1714-1G>A SNV Pathogenic
194704 rs794727182 GRCh37: X:128709873-128709873
GRCh38: X:129575896-129575896
40 OCRL NM_000276.4(OCRL):c.2574_2575del (p.Met859fs) DEL Pathogenic
1070116 GRCh37: X:128723925-128723926
GRCh38: X:129589948-129589949
41 OCRL NM_000276.4(OCRL):c.723-1G>A SNV Pathogenic
1074139 GRCh37: X:128694526-128694526
GRCh38: X:129560549-129560549
42 OCRL NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser) SNV Pathogenic
265391 rs886039518 GRCh37: X:128703350-128703350
GRCh38: X:129569373-129569373
43 OCRL NM_000276.4(OCRL):c.953G>A (p.Arg318His) SNV Pathogenic
1455667 GRCh37: X:128696374-128696374
GRCh38: X:129562397-129562397
44 OCRL NC_000023.10:g.(?_128674417)_(128724247_?)del DEL Pathogenic
1458962 GRCh37: X:128674417-128724247
GRCh38:
45 OCRL NM_000276.4(OCRL):c.1602+1G>T SNV Pathogenic
1454269 GRCh37: X:128703377-128703377
GRCh38: X:129569400-129569400
46 OCRL NM_000276.3(OCRL):c.-165-?_*2286+?del DEL Pathogenic
208011 GRCh37:
GRCh38:
47 OCRL NM_000276.3(OCRL):c.-165-?_199+?del DEL Pathogenic
208015 GRCh37:
GRCh38:
48 OCRL NM_000276.3(OCRL):c.-165-?_238+?del DEL Pathogenic
208016 GRCh37:
GRCh38:
49 OCRL NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter) SNV Pathogenic/Likely Pathogenic
1413179 GRCh37: X:128710497-128710497
GRCh38: X:129576520-129576520
50 OCRL NM_000276.4(OCRL):c.2256+1G>T SNV Likely Pathogenic
1472767 GRCh37: X:128721096-128721096
GRCh38: X:129587119-129587119

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 SYNJ2 SYNJ1 RAB5A OCRL NAGLU LRP2
2
Show member pathways
13.03 SYNJ2 SYNJ1 RAB5A RAB35 OCRL LRP2
3
Show member pathways
12.52 INPP5E INPP5J INPPL1 OCRL RAB5A SYNJ1
4
Show member pathways
12.17 SYNJ2 SYNJ1 RAB5A OCRL LRP2
5
Show member pathways
11.89 SYNJ2 SYNJ1 RAB5A OCRL INPPL1 INPP5J
6
Show member pathways
11.66 SYNJ1 OCRL INPPL1 INPP5J INPP5B
7
Show member pathways
11.08 SYNJ2 SYNJ1 OCRL INPPL1 INPP5J INPP5E
8 10.45 RAB35 OCRL

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 cytosol GO:0005829 10.68 APPL1 ARHGAP1 CDKN3 CLCN5 CRYAA GALK1
2 early endosome GO:0005769 10.07 RAB5A PHETA1 OCRL CLCN5 APPL1
3 early endosome membrane GO:0031901 10.06 APPL1 INPP5B OCRL RAB5A
4 phagocytic vesicle membrane GO:0030670 10.01 RAB5A OCRL INPP5B
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.99 RAB5A RAB35 LRP2
6 cytoplasmic vesicle GO:0031410 9.95 RAB5A RAB35 PHETA1 OCRL INPP5B APPL1
7 clathrin-coated vesicle GO:0030136 9.92 RAB35 PHETA1 OCRL
8 clathrin-coated pit GO:0005905 9.91 LRP2 OCRL RAB35
9 endosome membrane GO:0010008 9.9 RAB5A RAB35 OCRL CLCN5 ARHGAP1 APPL1
10 ruffle GO:0001726 9.86 APPL1 INPP5E INPP5J RAB5A
11 early phagosome GO:0032009 9.8 RAB5A APPL1
12 endosome GO:0005768 9.65 RAB5A RAB35 PHETA1 OCRL LRP2 INPP5B
13 obsolete anchored component of synaptic vesicle membrane GO:0098993 9.32 RAB5A RAB35
14 cell projection GO:0042995 9.32 SYNJ2 RAB5A OCRL LRP2 INPPL1 INPP5E

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

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 10.09 SYNJ1 RAB5A LRP2 INPPL1 CLCN5
2 phosphatidylinositol biosynthetic process GO:0006661 10.03 INPP5E INPP5J INPPL1 OCRL SYNJ1 SYNJ2
3 lipid metabolic process GO:0006629 10.02 INPP5B INPP5E INPPL1 LRP2 OCRL SYNJ1
4 membrane organization GO:0061024 9.93 SYNJ2 SYNJ1 OCRL
5 inositol phosphate metabolic process GO:0043647 9.92 SYNJ1 OCRL INPP5J INPP5B
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.88 SYNJ2 SYNJ1 OCRL
7 inositol phosphate dephosphorylation GO:0046855 9.56 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B
8 organophosphate metabolic process GO:0019637 9.55 OCRL INPPL1 INPP5J INPP5E INPP5B
9 phosphatidylinositol dephosphorylation GO:0046856 9.47 SYNJ2 SYNJ1 OCRL INPPL1 INPP5J INPP5E

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.18 CDKN3 INPP5B INPP5E INPP5J INPPL1 NAGLU
2 SH3 domain binding GO:0017124 10.18 ARHGAP1 INPP5J INPPL1 LRP2 SYNJ1 SYNJ2
3 inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity GO:0052659 9.97 OCRL INPP5J INPP5B
4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 9.93 SYNJ2 SYNJ1 OCRL
5 phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity GO:0034485 9.92 INPP5E INPP5J INPPL1 OCRL
6 phosphatidylinositol phosphate 4-phosphatase activity GO:0034596 9.91 SYNJ2 SYNJ1 OCRL
7 catalytic activity GO:0003824 9.91 SYNJ2 SYNJ1 OCRL INPPL1 INPP5J INPP5E
8 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.86 INPP5B INPP5J OCRL SYNJ1
9 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.85 SYNJ2 SYNJ1
10 inositol-polyphosphate 5-phosphatase activity GO:0004445 9.76 OCRL INPPL1 INPP5J INPP5E
11 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 9.7 SYNJ2 SYNJ1
12 inositol phosphate phosphatase activity GO:0052745 9.69 OCRL INPP5B
13 phosphatase activity GO:0016791 9.56 SYNJ2 SYNJ1 OCRL INPPL1 INPP5J INPP5E
14 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.54 SYNJ2 SYNJ1
15 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.4 SYNJ2 SYNJ1 OCRL INPP5J INPP5E INPP5B

Sources for Lowe Oculocerebrorenal Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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