DiseaseID 6172
佩利措伊斯-梅茨巴赫病
disease
NCI2016_02D:An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypoton
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Disease: 1Symptom: 9Target: 12Links: 21
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6172
- Core Entity Id
- 62784
- Source Entity Count
- 1
- Preferred Name
- Pelizaeus-Merzbacher Disease
- Name Cn
- 佩利措伊斯-梅茨巴赫病
- Name Pinyin
- Pei Li Cuo Yi Si - Mei Ci Ba He Bing
- Name En
- Pelizaeus-Merzbacher Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.|MSH2017_2016_08_12:A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)|JABL99:A dysmyelinating disorder of the central nervous system associated with a decrease in all myelin proteins, especially proteolipid protein. Several types are recognized: acute infantile types Synonyms: familial chronic infantile diffuse sclerosis perinatal sudanophilic leukodystrophy chronic infantile diffuse cerebral sclerosis adult-onset leukodystrophy Synonyms: late-onset type multiple sclerosis-like disorder autosomal dominant Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher-like disease (PMLD) Synonym: Pelizaeus-Medrzbacher disease with normal proteolipid protein In its classical form, the disease has an onset in the first three months of life with nystagmus followed by slowly progressive psychomotor retardation, involuntary movements, ataxia, and death in the second decade of life. The chronic infantile type may begin as early as the eight day of life and is slowly progressive so that the patient may survive to middle age. The early symptoms include rotary movements of the head and eyes, which may vanish later in life, usually followed by spasticity of the legs and arms, cerebellar ataxia, dementia, and parkinsonian tremor. The adult form has its onset in the fourth or fifth decades and is marked mainly by cerebellar, autonomic, and pyramidal disorders. Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms. Pelizaeus-Merzbacher-like disease is marked by symptoms characteristic of the classical form in, but with normal myelin which, however, is arranged into ball-like structures in the oligodendrocyte perikarya and terminal processes.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pelizaeus-Merzbacher Disease
Role
preferred
Name
Cockayne Pelizaeus Merzbacher Disease
Role
preferred
Name
Adult Pelizaeus-Merzbacher Disease
Role
preferred
Name
Classic Pelizaeus-Merzbacher Disease
Role
preferred
Name
Cockayne-Pelizaeus-Merzbacher Disease
Role
preferred
Name
Pelizaeus-Merzbacher Disease, Atypical
Role
preferred
Name
Pelizaeus-Merzbacher Disease, Transitional
Role
preferred
Name
Sudanophilic Leukodystrophy
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003269
Herb
HBDIS004290HBDIS011514HBDIS011515HBDIS011516HBDIS011517HBDIS011518
Me Sh
D020371
Omim
312080
Umls
C0205711C0751918
Sym Map
SMDE04396SMDE07300
Do Class
DOID:630DOID:7
Dis Ge Net
C0205711C0751914C0751915C0751916C0751917C0751918
Umls Sty
T047
Hpo Class
HP:0000707
Me Sh Class
C10C16C18
Tcmbank Disease
110791664727563288552889529335
Itcmdb Generated
ITX-DISEASE-68F1B4A1C7B4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Do Disease Class
disease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.|MSH2017_2016_08_12:A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)|JABL99:A dysmyelinating disorder of the central nervous system associated with a decrease in all myelin proteins, especially proteolipid protein. Several types are recognized: acute infantile types Synonyms: familial chronic infantile diffuse sclerosis perinatal sudanophilic leukodystrophy chronic infantile diffuse cerebral sclerosis adult-onset leukodystrophy Synonyms: late-onset type multiple sclerosis-like disorder autosomal dominant Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher-like disease (PMLD) Synonym: Pelizaeus-Medrzbacher disease with normal proteolipid protein In its classical form, the disease has an onset in the first three months of life with nystagmus followed by slowly progressive psychomotor retardation, involuntary movements, ataxia, and death in the second decade of life. The chronic infantile type may begin as early as the eight day of life and is slowly progressive so that the patient may survive to middle age. The early symptoms include rotary movements of the head and eyes, which may vanish later in life, usually followed by spasticity of the legs and arms, cerebellar ataxia, dementia, and parkinsonian tremor. The adult form has its onset in the fourth or fifth decades and is marked mainly by cerebellar, autonomic, and pyramidal disorders. Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms. Pelizaeus-Merzbacher-like disease is marked by symptoms characteristic of the classical form in, but with normal myelin which, however, is arranged into ball-like structures in the oligodendrocyte perikarya and terminal processes.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome