medical citation needed] This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. (wikipedia.org)
In 1992, Nussbaum and colleagues reported that mutations of OCRL1 caused the rare X-linked disorder oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, which includes the diagnostic triad of congenital cataracts, neonatal or infantile hypotonia with subsequent mental impairment, and renal tubular dysfunction. (medscape.com)
Lowe syndrome is caused by an inherited mutation in the OCRL gene, mapped to chromosome Xq 26.1, which encodes the OCRL1 protein. (medscape.com)
Membrane trafficking defects caused by mutation in OCRL may explain renal tubular defects observed in Lowe syndrome, including the inability of proximal tubular cells (PTC) to reabsorb low-molecular weight (LMW) proteins and other solutes such as phosphorus and bicarbonate from the glomerular filtrate. (medscape.com)
Lowe syndrome, also called oculocerebrorenal syndrome (OCRS) and oculocerebrorenal syndrome of Lowe (OCRL), is an X-linked recessive metabolic disorder described by Lowe and coworkers in 1952. (medscape.com)
Luo N, Kumar A, Conwell M, Weinreb RN, Anderson R, Sun Y. Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. (medscape.com)
The oculocerebrorenal syndrome described by C.U. Lowe in 1952 is a rare genetic defect (prevalence 1:500 000) caused by mutation of the OCRL gene which encodes phosphatidylinositol 4,5-bisphosphate 5-phosphatase. (edu.pl)
Mutations in the OCRL gene cause Lowe syndrome. (medlineplus.gov)
Researchers are working to determine how OCRL mutations cause the characteristic features of Lowe syndrome. (medlineplus.gov)
In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. (medlineplus.gov)
Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. (medlineplus.gov)
The Oculocerebrorenal syndrome of Lowe (OCRL or Lowe syndrome) is a rare X-linked disorder, which is a characterized by a pleiotropic phenotype including congenital bilateral dense cataracts, infantile congenital muscular hypotonia, severe intellectual disability and Fanconi syndrome of the kidney proximal tubules (Lewis et al. (preventiongenetics.com)
IPIP27 scaffolds the inositol phosphatase oculocerebrorenal syndrome of Lowe (OCRL) by coupling it to endocytic BAR domain proteins. (iric.ca)
Currently, we focus on oculocerebrorenal syndrome of Lowe protein (OCRL), oligophrenin (OPHN) and fragile X mental retardation protein (FMRP). (neurosciences-duesseldorf.de)
Lowe's syndrome is a result of mutations in a gene called the OCRL gene, which codes for an enzyme that helps modify fat molecules known as membrane phospholipids. (bhaskarhealth.com)
For final confirmation of Lowe's syndrome, measurement of the activity of the inositol polyphosphate-5-phosphatase can be done in skin fibroblasts, although genetic testing for the OCRL gene is also an option. (bhaskarhealth.com)
Fanconi8
Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss). (wikipedia.org)
When more patients were described, the phenotype was expanded to include the renal tubular defects that comprise Fanconi syndrome , and an X-linked inheritance pattern was noted. (medscape.com)
It is characterized by congenital cataracts, infantile glaucoma, neonatal or infantile hypotonia, intellectual impairment, and renal tubular dysfunction (Fanconi syndrome). (medscape.com)
A typical clinical triad characterizing the disease consists of congenital cataract, mental retardation and proximal tubulopathy (secondary Fanconi syndrome without glycosuria) with slow progression to end stage kidney disease in the 2nd-4th decade. (edu.pl)
Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. (medlineplus.gov)
In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. (medlineplus.gov)
Fanconi Syndrome Fanconi syndrome consists of multiple defects in renal proximal tubular reabsorption, causing glucosuria, phosphaturia, generalized aminoaciduria, and bicarbonate wasting. (msdmanuals.com)
The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. (nih.gov)
Phenotype3
Böckenhauer D., Bökenkamp A., van't Hoff W., Levtchenko E., Kistvan Holthe J.E., Tasic V., Ludwig M. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. (edu.pl)
Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
Lowe Syndrome27
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. (wikipedia.org)
glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. (wikipedia.org)
The main substrates for Lowe syndrome are two phosphoinositides (Ptdln): PtdIn4,5P2 and PtdIn3,4,5P3. (medscape.com)
[ 1 ] These studies provide strength to the classification of Lowe syndrome as part of the ciliopathy-associated diseases. (medscape.com)
[ 2 ] and (2) Mehta ZB, Pietka G, Lowe M. The cellular and physiological functions of the Lowe syndrome protein OCRL1. (medscape.com)
The low number of megalin at the PTC apical border explains the reduced endocytosis of low-molecular weight proteins that occur in Lowe syndrome. (medscape.com)
[ 3 ] Proteomic analysis of urine from patients with Lowe syndrome typically show low levels of megalin and cubilin denoting a decrease in the number of these multiligand receptors in the PTC. (medscape.com)
Classic lenticular opacities in a female carrier for Lowe syndrome. (medscape.com)
Lowe syndrome is caused by a mutation of the OCRL1 gene mapped to the chromosomal locus of Xq26.1. (medscape.com)
Deficiency of the enzyme causes the protean manifestations of Lowe syndrome. (medscape.com)
[ 4 , 5 ] Fibroblast activity was found to be decreased by 80%-90% in patients with Lowe syndrome compared to healthy controls. (medscape.com)
The estimated prevalence of Lowe syndrome is 1 per 500,000 population. (medscape.com)
The Lowe Syndrome Association (LSA) reported 190 males living with Lowe syndrome in 2000. (medscape.com)
[ 7 ] As of 2005, the Italian Association of Lowe's Syndrome reported 34 individuals with Lowe syndrome living in Italy. (medscape.com)
[ 6 ] No cases of Lowe syndrome have been reported in Africa, South America, and parts of Asia. (medscape.com)
Lowe syndrome occurs almost exclusively in males. (medscape.com)
Here we reported a 2-year-old boy with the clinical picture of Lowe syndrome (congenital cataract, hypotonia, psychomotor development retardation and tubulopathy), examined and treated in many medical centers. (edu.pl)
Nussbaum R.L., Orrison B.M., Janne P.A., Charnas L., Chinault A.C. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. (edu.pl)
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. (medlineplus.gov)
Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. (medlineplus.gov)
Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD). (medlineplus.gov)
Candidates for this test are patients with symptoms consistent with Lowe syndrome and Dent disease - 2 (negative for CLCN5 gene pathogenic variants ) , family members of patients who have known mutations and carrier testing for at-risk family members. (preventiongenetics.com)
2012). Female carriers of Lowe syndrome show no clinical symptoms, however, ~95% do show characteristic lenticular opacities that was absent in all proven noncarriers (Röschinger et al. (preventiongenetics.com)
Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. (nih.gov)
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. (nih.gov)
Cerebrooculorenal1
Lowe's syndrome - also known as the cerebrooculorenal syndrome, the oculocerebrorenal syndrome of Lowe, and phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency - represents a very rare multisystem disorder that affects the eye, the central nervous system, and the kidneys. (bhaskarhealth.com)
Inositol1
Attre O., Olivos I.M., Okabe I., Bailey L.C., Nelson D.L., Lewis R.A., McInnes R.R., Nussbaum R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. (edu.pl)
Mutation2
A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. (nih.gov)
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome. (nih.gov)
Glaucoma2
However, if there is an associated generalized defect in proximal tubular function, symptoms and signs may include hypophosphatemic rickets, volume depletion, short stature, muscle hypotonia, and ocular changes of cataracts or glaucoma (oculocerebrorenal syndrome) or Kayser-Fleischer rings (Wilson disease). (msdmanuals.com)
Management of Lowe's syndrome includes early cataract surgery in order to avoid amblyopia, while ocular tone has to be tested repeatedly in order to diagnose glaucoma. (bhaskarhealth.com)
Dysfunction1
This suggests that this syndrome is due to dysfunction of the cilia in these cells. (wikipedia.org)
Cataracts1
In differential diagnosis, we have to bear in mind that bilateral cataracts of the eyes and hypotonia are also found in congenital infections (such as rubella), congenital myopathies, mitochondriopathies and some other syndromes. (bhaskarhealth.com)
Symptoms and s1
We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. (nih.gov)
Diagnosis1
A triad of eye, nervous system, and kidney involvement is absolutely necessary for the diagnosis of Lowe's syndrome. (bhaskarhealth.com)
Kidney1
Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome. (wikipedia.org)
Phenotypic2
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? (nih.gov)
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (nih.gov)
Proximal1
The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. (nih.gov)
The estimated prevalence of Lowe's syndrome is 1 in 500 thousand people. (bhaskarhealth.com)
The gene resides on the X chromosome, hence Lowe's syndrome is inherited in an X-linked pattern. (bhaskarhealth.com)
Renal involvement is another major clinical feature of Lowe's syndrome, usually occurring during the initial years of life with varying degrees of severity. (bhaskarhealth.com)
Patients with Lowe's syndrome often exhibit typical facial determinants such as deep-set eyes, frontal bossing, chubby cheeks, as well as a fair complexion with a blonde hair. (bhaskarhealth.com)
Nephrotic Syndrome1
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. (nih.gov)
Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. (nih.gov)
Scheie1
While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)
Deletion syndrome6
22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
Abnormalities1
It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
Marfan1
With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. (nih.gov)
Noonan1
Noonan Syndrome Turner Syndrome Normal Karyotype XO (60%) MC heart sisease 1. (mediconotebook.com)
Mutations cause1
At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain. (wikipedia.org)