Refsum Disease, Infantile

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.

推出的年份: 2007

树号: C10.228.140.163.100.844, C16.320.565.189.844, C16.320.565.663.865, C18.452.132.100.844, C18.452.648.189.844, C18.452.648.663.865

MeSH 单一 ID: D052919

进入的组:

Disease, Infantile Refsum
Infantile Phytanic Acid Storage Disease
Refsum's Disease, Infantile
Refsums Disease, Infantile
Infantile Refsum's Disease
Disease, Infantile Refsum's
Infantile Refsums Disease
Refsum Disease, Infantile Form
Infantile Form of Phytanic Acid Storage Disease
Infantile Refsum Disease

早前的内容:

Peroxisomal Disorders (1998-2006)
Refsum Disease (1986-2006)

All MeSH Categories
- Diseases Category
  - Nervous System Diseases [C10]
    - Central Nervous System Diseases [C10.228]
      - Brain Diseases [C10.228.140]
        
        Brain Diseases, Metabolic [C10.228.140.163]
        
        Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362] add_circle
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435] add_circle
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687] add_circle
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937] add_circle
        
        Zellweger Syndrome [C10.228.140.163.100.968]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Metabolism, Inborn Errors [C16.320.565]
        
        Brain Diseases, Metabolic, Inborn [C16.320.565.189]
        
        Adrenoleukodystrophy [C16.320.565.189.084]
        
        Cerebral Amyloid Angiopathy, Familial [C16.320.565.189.168]
        
        Galactosemias [C16.320.565.189.320]
        
        Hartnup Disease [C16.320.565.189.355]
        
        Hepatolenticular Degeneration [C16.320.565.189.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C16.320.565.189.362] add_circle
        
        Homocystinuria [C16.320.565.189.365]
        
        Hyperglycinemia, Nonketotic [C16.320.565.189.375]
        
        Hyperlysinemias [C16.320.565.189.380]
        
        Leigh Disease [C16.320.565.189.412]
        
        Lesch-Nyhan Syndrome [C16.320.565.189.425]
        
        Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435] add_circle
        
        Maple Syrup Urine Disease [C16.320.565.189.520]
        
        MELAS Syndrome [C16.320.565.189.535]
        
        Menkes Kinky Hair Syndrome [C16.320.565.189.540]
        
        MERRF Syndrome [C16.320.565.189.545]
        
        Mevalonate Kinase Deficiency [C16.320.565.189.593]
        
        Oculocerebrorenal Syndrome [C16.320.565.189.640]
        
        Phenylketonurias [C16.320.565.189.687] add_circle
        
        Pyruvate Carboxylase Deficiency Disease [C16.320.565.189.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.189.750]
        
        Refsum Disease [C16.320.565.189.813]
        
        Refsum Disease, Infantile [C16.320.565.189.844]
        
        Tyrosinemias [C16.320.565.189.875]
        
        Urea Cycle Disorders, Inborn [C16.320.565.189.937] add_circle
        
        Zellweger Syndrome [C16.320.565.189.968]

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Metabolism, Inborn Errors [C16.320.565]
        
        Peroxisomal Disorders [C16.320.565.663]
        
        Acatalasia [C16.320.565.663.050]
        
        Adrenoleukodystrophy [C16.320.565.663.100]
        
        Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.265]
        
        Mevalonate Kinase Deficiency [C16.320.565.663.430]
        
        Refsum Disease [C16.320.565.663.760]
        
        Refsum Disease, Infantile [C16.320.565.663.865]
        
        Zellweger Syndrome [C16.320.565.663.970]

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Brain Diseases, Metabolic [C18.452.132]
        
        Brain Diseases, Metabolic, Inborn [C18.452.132.100]
        
        Adrenoleukodystrophy [C18.452.132.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C18.452.132.100.168]
        
        Galactosemias [C18.452.132.100.320]
        
        Hartnup Disease [C18.452.132.100.355]
        
        Hepatolenticular Degeneration [C18.452.132.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C18.452.132.100.362] add_circle
        
        Homocystinuria [C18.452.132.100.365]
        
        Hyperglycinemia, Nonketotic [C18.452.132.100.375]
        
        Hyperlysinemias [C18.452.132.100.380]
        
        Leigh Disease [C18.452.132.100.412]
        
        Lesch-Nyhan Syndrome [C18.452.132.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435] add_circle
        
        Maple Syrup Urine Disease [C18.452.132.100.520]
        
        MELAS Syndrome [C18.452.132.100.535]
        
        Menkes Kinky Hair Syndrome [C18.452.132.100.540]
        
        MERRF Syndrome [C18.452.132.100.545]
        
        Mevalonate Kinase Deficiency [C18.452.132.100.593]
        
        Oculocerebrorenal Syndrome [C18.452.132.100.640]
        
        Phenylketonurias [C18.452.132.100.687] add_circle
        
        Pyruvate Carboxylase Deficiency Disease [C18.452.132.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.132.100.750]
        
        Refsum Disease [C18.452.132.100.813]
        
        Refsum Disease, Infantile [C18.452.132.100.844]
        
        Tyrosinemias [C18.452.132.100.875]
        
        Urea Cycle Disorders, Inborn [C18.452.132.100.937] add_circle
        
        Zellweger Syndrome [C18.452.132.100.968]

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Metabolism, Inborn Errors [C18.452.648]
        
        Brain Diseases, Metabolic, Inborn [C18.452.648.189]
        
        Adrenoleukodystrophy [C18.452.648.189.084]
        
        Cerebral Amyloid Angiopathy, Familial [C18.452.648.189.168]
        
        Galactosemias [C18.452.648.189.320]
        
        Hartnup Disease [C18.452.648.189.355]
        
        Hepatolenticular Degeneration [C18.452.648.189.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C18.452.648.189.362] add_circle
        
        Homocystinuria [C18.452.648.189.365]
        
        Hyperglycinemia, Nonketotic [C18.452.648.189.375]
        
        Hyperlysinemias [C18.452.648.189.380]
        
        Leigh Disease [C18.452.648.189.412]
        
        Lesch-Nyhan Syndrome [C18.452.648.189.425]
        
        Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435] add_circle
        
        Maple Syrup Urine Disease [C18.452.648.189.520]
        
        MELAS Syndrome [C18.452.648.189.535]
        
        Menkes Kinky Hair Syndrome [C18.452.648.189.540]
        
        MERRF Syndrome [C18.452.648.189.545]
        
        Mevalonate Kinase Deficiency [C18.452.648.189.593]
        
        Oculocerebrorenal Syndrome [C18.452.648.189.640]
        
        Phenylketonurias [C18.452.648.189.687] add_circle
        
        Pyruvate Carboxylase Deficiency Disease [C18.452.648.189.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C18.452.648.189.750]
        
        Refsum Disease [C18.452.648.189.813]
        
        Refsum Disease, Infantile [C18.452.648.189.844]
        
        Tyrosinemias [C18.452.648.189.875]
        
        Urea Cycle Disorders, Inborn [C18.452.648.189.937] add_circle
        
        Zellweger Syndrome [C18.452.648.189.968]

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Metabolism, Inborn Errors [C18.452.648]
        
        Peroxisomal Disorders [C18.452.648.663]
        
        Acatalasia [C18.452.648.663.050]
        
        Adrenoleukodystrophy [C18.452.648.663.100]
        
        Chondrodysplasia Punctata, Rhizomelic [C18.452.648.663.265]
        
        Mevalonate Kinase Deficiency [C18.452.648.663.430]
        
        Refsum Disease [C18.452.648.663.760]
        
        Refsum Disease, Infantile [C18.452.648.663.865]
        
        Zellweger Syndrome [C18.452.648.663.970]

MeSH 搜索器

Refsum Disease, Infantile

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