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OCRL
MCID: LWC002
MIFTS: 67
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Lowe Oculocerebrorenal Syndrome (OCRL)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lowe Oculocerebrorenal Syndrome:
Characteristics:Orphanet epidemiological data:60
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:58
Inheritance:
x-linked recessive
Miscellaneous:
the majority of female heterozygotes reveal ophthalmologic abnormalities - multiple, micropunctate, gray lens opacities or single, dense posterior cataract HPO:33
lowe oculocerebrorenal syndrome:
Mortality/Aging death in infancy Inheritance x-linked recessive inheritance GeneReviews:25
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
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
External Ids:
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UniProtKB/Swiss-Prot
:
76
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 renal tubular transport disease, 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 potassium phosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and brain, and related phenotypes are nystagmus and depressivity 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 : 26 Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. NIH Rare Diseases : 54 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 : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...
Description from OMIM:
309000
GeneReviews:
NBK1480
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Human phenotypes related to Lowe Oculocerebrorenal Syndrome:60 33 (show top 50) (show all 143)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:309000UMLS symptoms related to Lowe Oculocerebrorenal Syndrome:constipation GenomeRNAi Phenotypes related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:27
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Drugs for Lowe Oculocerebrorenal Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Cochrane evidence based reviews: oculocerebrorenal syndrome |
MalaCards organs/tissues related to Lowe Oculocerebrorenal Syndrome:42
Kidney,
Eye,
Brain,
Skin,
Liver,
Testes
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Articles related to Lowe Oculocerebrorenal Syndrome:(show top 50) (show all 148)
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Genes related to Lowe Oculocerebrorenal Syndrome (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lowe Oculocerebrorenal Syndrome:76 (show all 36)
ClinVar genetic disease variations for Lowe Oculocerebrorenal Syndrome:6 (show top 50) (show all 116)
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Search
GEO
for disease gene expression data for Lowe Oculocerebrorenal Syndrome.
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Pathways related to Lowe Oculocerebrorenal Syndrome according to KEGG:38
Pathways related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Lowe Oculocerebrorenal Syndrome according to GeneCards Suite gene sharing:
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