Lowe Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Lowe Syndrome:
Orphanet epidemiological data:53
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom); Age of onset: Neonatal; Age of death: adult
Inheritance: x-linked recessive inheritance
Penetrance: penetrance is complete, with similar phenotype in affected males within any given family...
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Nephrological diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 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 Syndrome, also known as oculocerebrorenal syndrome, is related to hypophosphatemic rickets and early yaws, and has symptoms including renal insufficiency, abnormality of the renal tubule and proteinuria. An important gene associated with Lowe Syndrome is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase), and among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. Affiliated tissues include kidney, eye and brain, and related mouse phenotypes are craniofacial and renal/urinary system.
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:47 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. Last updated: 3/13/2016
Wikipedia:70 Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder... more...
Description from OMIM:51 309000
GeneReviews for NBK1480
Human phenotypes related to Lowe Syndrome:63 53 (show all 160)
UMLS symptoms related to Lowe Syndrome:constipation
Drugs for Lowe Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 90)
Interventional clinical trials:(show all 17)
Search NIH Clinical Center for Lowe Syndrome
MalaCards organs/tissues related to Lowe Syndrome:35
Kidney, Eye, Brain, Skin, Bone, Testes, Myeloid
Articles related to Lowe Syndrome:(show top 50) (show all 82)
UniProtKB/Swiss-Prot genetic disease variations for Lowe Syndrome:69 (show all 36)
Clinvar genetic disease variations for Lowe Syndrome:5 (show all 20)
Search GEO for disease gene expression data for Lowe Syndrome.
Pathways related to Lowe Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Lowe Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Lowe Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Lowe Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet