DiseaseID 26184

眼脑肾综合征

Lowe Oculocerebrorenal Syndrome

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Disease Id: 26184
Core Entity Id: 118752
Source Entity Count: 1
Preferred Name: Lowe Oculocerebrorenal Syndrome
Name Cn: 眼脑肾综合征
Name Pinyin: Yan Nao Shen Zong He Zheng
Name En: Lowe Oculocerebrorenal Syndrome
Name Latin
Bilingual Status: complete
Disease Type
Umls Disease Type
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Disease Definition: NCI2016_NICHD_1602D:An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction.|NCI2016_02D:An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.|MSH2017_2016_08_12: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)|JABL99:A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy.|CSP2006:sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Lowe Oculocerebrorenal Syndrome

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Umls

C2713392

Sym Map

SMDE02325

Etcm Disease

Lowe Oculocerebrorenal Syndrome

Itcmdb Generated

ITX-DISEASE-587B9BD51CDA

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Page Title

Disease Lowe Oculocerebrorenal Syndrome Details page

Basic Information

Disease Name

Lowe Oculocerebrorenal Syndrome

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Nephrological diseases;Neuronal diseases

Disease Definition

NCI2016_NICHD_1602D:An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction.|NCI2016_02D:An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.|MSH2017_2016_08_12: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)|JABL99:A syndrome of congenital cataracts, hydrophthalmia, delayed growth and mental development, vitamin D-resistant rickets, aminoaciduria, and reduced production of ammonia by the kidneys. Additional manifestations include areflexia, hypotonia, glaucoma, corneal keloid, and noninflammatory arthropathy.|CSP2006:sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.