AARS1 Related Diseases

AARS1

Related Diseases

1) Peripheral Neuropathy
Neuropathy, also known as peripheral neuropathy, is related to neuropathy, hereditary, with liability to pressure palsies and neuropathy, hereditary sensory and autonomic, type iia, and has symptoms including back pain, headache and neuralgia. An important gene associated with Neuropathy is DLX6-AS1 (DLX6 Antisense RNA 1), and among its related pathways/superpathways are Neural crest differentiation and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Capsaicin and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include nerves, dorsal root ganglion and bone marrow, and related phenotypes are no effect and no effect

2) Polyneuropathy
Polyneuropathy, also known as polyneuropathies, is related to amyloidosis, hereditary, transthyretin-related and chronic inflammatory demyelinating polyradiculoneuropathy, and has symptoms including neuralgia An important gene associated with Polyneuropathy is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways are Guidance Cues and Growth Cone Motility and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Imipramine and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, liver and brain, and related phenotypes are no effect and no effect

3) Early Infantile Epileptic Encephalopathy
Early Infantile Epileptic Encephalopathy, also known as early infantile epileptic encephalopathy with suppression bursts, is related to developmental and epileptic encephalopathy 14 and developmental and epileptic encephalopathy 1. An important gene associated with Early Infantile Epileptic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. Affiliated tissues include brain, cortex and eye, and related phenotypes are intellectual disability and global developmental delay

4) Neuropathy
Neuropathy, also known as peripheral neuropathy, is related to neuropathy, hereditary, with liability to pressure palsies and neuropathy, hereditary sensory and autonomic, type iia, and has symptoms including back pain, headache and neuralgia. An important gene associated with Neuropathy is DLX6-AS1 (DLX6 Antisense RNA 1), and among its related pathways/superpathways are Neural crest differentiation and EGR2 and SOX10-mediated initiation of Schwann cell myelination. The drugs Capsaicin and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include nerves, dorsal root ganglion and bone marrow, and related phenotypes are no effect and no effect

5) Leukodystrophies
Leukodystrophy, also known as leukodystrophies, is related to metachromatic leukodystrophy and krabbe disease, and has symptoms including back pain, headache and pain. An important gene associated with Leukodystrophy is EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon), and among its related pathways/superpathways are Neural Stem Cells and Lineage-specific Markers and Translation factors. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and brain, and related phenotypes are no effect and no effect

6) Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, also known as hereditary motor and sensory neuropathy, is related to charcot-marie-tooth disease, axonal, type 2e and charcot-marie-tooth disease and deafness, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Disease is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, spinal cord and brain, and related phenotypes are no effect and no effect

7) Charcot-Marie-Tooth Disease Axonal Type 2N
Charcot-Marie-Tooth Disease, Axonal, Type 2n, also known as charcot-marie-tooth disease axonal type 2n, is related to neuropathy and peripheral nervous system disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2n is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Viral mRNA Translation. Affiliated tissues include brain and peripheral nerve, and related phenotypes are hyporeflexia and distal muscle weakness

8) Charcot-Marie-Tooth Disease, Type 2
Charcot-Marie-Tooth Disease, Axonal, Type 2e, also known as charcot-marie-tooth disease type 2, is related to charcot-marie-tooth disease, axonal, type 2j and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways are Cytoskeletal Signaling and tRNA Aminoacylation. Affiliated tissues include skeletal muscle, heart and cortex, and related phenotypes are upper limb muscle weakness and peripheral axonal neuropathy

9) Autism Spectrum Disorders
Autism Spectrum Disorder, also known as autism spectrum disorders, is related to autism and attention deficit-hyperactivity disorder, and has symptoms including widespread abnormalities of social interactions, severely restricted interests and highly repetitive behavior. An important gene associated with Autism Spectrum Disorder is SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Thyroid hormones production and peripheral downstream signaling effects and Rett syndrome causing genes. The drugs Acetylcholine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are nervous system and growth/size/body region

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