Lowe oculocerebrorenal syndrome

Preferred Label : Lowe oculocerebrorenal syndrome;

Symbol : OCRL;

CISMeF acronym : OCRL; OCRL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency; Lowe syndrome; OCRL1;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OCRL inositol polyphosphate-5-phosphatase gene (OCRL1, 300535.0001);

Laboratory abnormalities : Bicarbonaturia; Aminoaciduria; Proteinuria; Phosphaturia; Elevated serum acid phosphatase; Elevated serum protein; Abnormal serum protein electrophoresis (elevated alpha-2 band); Elevated total cholesterol; Deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (PtdIns(4,5)P(2) 5-phosphatase) in cultured fibroblasts;

Prefixed ID : #309000;

Details

Origin ID

309000;

UMLS CUI

C0028860;

Automatic exact mappings (from CISMeF team)
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- OCRL1 [LOINC component]
- phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- 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 [MedDRA Preferred Term]
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
- Renal ocular syndrome (disorder) [SNOMED CT concept]
- lowe syndrome [SNOMED Notion]
- oculocerebrorenal syndrome [DO Concept]
- oculocerebrorenal syndrome [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH concept]
DO Cross reference
- oculocerebrorenal syndrome [DO Concept]
Genes related to phenotype
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Aminoaciduria [HPO term]
- Areflexia [HPO term]
- Bicarbonaturia [HPO term]
- Camptodactyly of finger [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Dense posterior cortical cataract [HPO term]
- Developmental cataract [HPO term]
- Elevated amniotic fluid alpha-fetoprotein [HPO term]
- Elevated maternal serum alpha-fetoprotein [HPO term]
- Elevated serum acid phosphatase [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Finger swelling [HPO term]
- Genu valgum [HPO term]
- Glaucoma [HPO term]
- Hip dislocation [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperphosphaturia [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Microphthalmia [HPO term]
- Neonatal hypotonia [HPO term]
- Osteomalacia [HPO term]
- Pathologic fracture [HPO term]
- Periventricular cysts [HPO term]
- Platyspondyly [HPO term]
- Proteinuria [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Reduced visual acuity [HPO term]
- Renal Fanconi syndrome [HPO term]
- Renal insufficiency [HPO term]
- Rickets [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Subcutaneous nodule [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
- Wrist swelling [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH concept]
- oculocerebrorenal syndrome [DO Concept]

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