| Descriptor English: | Oculocerebrorenal Syndrome | ||||||
| Descriptor Spanish: |
Síndrome Oculocerebrorrenal
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| Descriptor Portuguese: | Síndrome Oculocerebrorrenal | ||||||
| Descriptor French: | Syndrome de Lowe | ||||||
| Entry term(s): |
Cerebro Oculo Renal Syndrome Cerebro-Oculo-Renal Syndrome Cerebrooculorenal Syndrome Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Dystrophy, Oculocerebrorenal Lowe Bickel Syndrome Lowe Disease Lowe Oculocerebrorenal Syndrome Lowe Syndrome Lowe Terrey MacLachlan Syndrome Lowe-Bickel Syndrome Lowe-Terrey-MacLachlan Syndrome Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome of Lowe Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Renal Oculocerebrodystrophy Renal-Oculocerebrodystrophy |
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| Tree number(s): |
C10.228.140.163.100.640 C12.050.351.968.419.815.720 C12.200.777.419.815.720 C12.950.419.815.720 C16.131.077.662 C16.320.322.750 C16.320.565.151.600 C16.320.565.189.640 C16.320.709 C16.320.831.750 C18.452.132.100.640 C18.452.648.151.600 C18.452.648.189.640 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009800 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Abnormalities, Multiple (1968-1976) Eye Diseases (1966-1976) Kidney Diseases (1966-1976) |
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| Public MeSH Note: | 1991; see RENAL TUBULAR TRANSPORT, INBORN ERRORS 1977-1990 |
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| History Note: | 1991(1977) |
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| DeCS ID: | 9986 | ||||||
| Unique ID: | D009800 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1976/05/19 | ||||||
| Revision Date: | 2016/06/30 |
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Oculocerebrorenal Syndrome
- Preferred
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
- Related but not broader or narrower
| Concept UI |
M0015215 |
| Scope note | 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) |
| Preferred term | Oculocerebrorenal Syndrome |
| Entry term(s) |
Cerebro Oculo Renal Syndrome Cerebro-Oculo-Renal Syndrome Cerebrooculorenal Syndrome Dystrophy, Oculocerebrorenal Lowe Bickel Syndrome Lowe Disease Lowe Oculocerebrorenal Syndrome Lowe Syndrome Lowe Terrey MacLachlan Syndrome Lowe-Bickel Syndrome Lowe-Terrey-MacLachlan Syndrome Oculocerebrorenal Dystrophy Oculocerebrorenal Syndrome of Lowe Renal Oculocerebrodystrophy Renal-Oculocerebrodystrophy |
| Concept UI |
M0536558 |
| Preferred term | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency |
| Entry term(s) |
Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency |
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