DiseaseID 26549

常染色体隐性巨轴索神经病1型

Giant Axonal Neuropathy 1, Autosomal Recessive

Relationship Network

Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

Click a node to open it in a new tab

Disease: 1Formula: 20Symptom: 5Target: 17Links: 49

Arranging relationship network...

Record Fields

Scalar fields from the final disease record.

Disease Id: 26549
Core Entity Id: 119117
Source Entity Count: 1
Preferred Name: Giant Axonal Neuropathy 1, Autosomal Recessive
Name Cn: 常染色体隐性巨轴索神经病1型
Name Pinyin: Chang Ran Se Ti Yin Xing Ju Zhou Suo Shen Jing Bing 1 Xing
Name En: Giant Axonal Neuropathy 1, Autosomal Recessive
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:An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons|NCI2016_02D:A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.|MSH2017_2016_08_12:Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Version: v1,v2
Suppressed: No

Names

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

Name

Giant Axonal Neuropathy 1, Autosomal Recessive

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Umls

C1850386

Sym Map

SMDE04007

Etcm Disease

Giant Axonal Neuropathy 1, Autosomal Recessive

Itcmdb Generated

ITX-DISEASE-301493C93D29

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Page Title

Disease Giant Axonal Neuropathy 1, Autosomal Recessive Details page

Basic Information

Disease Name

Giant Axonal Neuropathy 1, Autosomal Recessive

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Mental diseases;Nephrological diseases;Neuronal diseases

Disease Definition

SNOMEDCT_US_2016_09_01:An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons|NCI2016_02D:A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.|MSH2017_2016_08_12:Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).