DiseaseID 25784
腓骨肌萎缩症4A型
Charcot-Marie-Tooth Disease, Type 4A
SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation
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Disease: 1Herb: 1Target: 18Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25784
- Core Entity Id
- 118352
- Source Entity Count
- 1
- Preferred Name
- Charcot-Marie-Tooth Disease, Type 4A
- Name Cn
- 腓骨肌萎缩症4A型
- Name Pinyin
- Fei Gu Ji Wei Suo Zheng 4a Xing
- Name En
- Charcot-Marie-Tooth Disease, Type 4A
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Charcot-Marie-Tooth Disease, Type 4A
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1859198
Sym Map
SMDE00331
Etcm Disease
Charcot-Marie-Tooth Disease, Type 4a
Itcmdb Generated
ITX-DISEASE-415758DABE6F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Charcot-Marie-Tooth Disease, Type 4a Details page
Basic Information
Disease Name
Charcot-Marie-Tooth Disease, Type 4a
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner.