oculocerebrorenal syndrome

Preferred Label : oculocerebrorenal syndrome;

MeSH definition : A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8);

MeSH synonym : cerebrooculorenal syndrome; lowe disease; lowe syndrome; lowe-bickel syndrome; lowe bickel syndrome; lowe-terrey-maclachlan syndrome; lowe terrey maclachlan syndrome; oculocerebrorenal dystrophy; dystrophy, oculocerebrorenal; cerebro-oculo-renal syndrome; cerebro oculo renal syndrome; lowe oculocerebrorenal syndrome; renal oculocerebrodystrophy; renal-oculocerebrodystrophy; oculocerebrorenal syndrome of lowe;

CISMeF synonym : oculocerebrorenal's syndrome; cerebro-oculo-renal syndromes; cerebrooculorenal syndromes; dystrophies, oculocerebrorenal; oculocerebrorenal dystrophies; renal-oculocerebrodystrophies;

Related MeSH term : phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency; Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency; Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase;

Wikipedia link : https://en.wikipedia.org/wiki/Oculocerebrorenal syndrome;

Details

Origin ID

D009800;

UMLS CUI

C0028860;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal Syndrome [NCIt concept]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- Renal ocular syndrome (disorder) [SNOMED CT concept]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
DO Cross reference
- oculocerebrorenal syndrome [DO Concept]
False automatic mappings
- Low back pain (finding) [SNOMED CT concept]
Indexing information
- OCRL protein, human [MeSH Supplementary Concept]
- ocrl protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic renal tubular disease [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
- Renal disease with cataract [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
ORDO relation(s)
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
Record concept(s)
- oculocerebrorenal syndrome [MeSH concept]
- phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- meier blumberg imahorn syndrome [MeSH Supplementary Concept]
See also
- dent disease [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
- Lowe syndrome [PASCAL descriptor]
- Lowe syndrome [Disease (Nov.)]
- Lowe syndrome (disorder) [SNOMED CT concept]
- Lowe's syndrome [MedDRA LLT]
- Oculocerebrorenal Syndrome [NCIt concept]
- Oculocerebrorenal syndrome [MedDRA Preferred Term]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
Validated automatic mappings to BTNT
- Disorders of amino-acid transport [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]

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