Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Abnormal synaptic transmission (HP:0012535)help
Term ID: 12535
Name: Abnormal synaptic transmission
Synonym: Abnormality of neurotransmitter metabolism
Definition: An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.
Comments:
Reference: HP:0012535
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal peripheral nervous system synaptic transmission (HP:0030191) help
................... HP:0003398 Abnormal synaptic transmission at the neuromuscular junction
................... HP:0030201 Response to drugs acting on neuromuscular transmission

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012535HP:0012535Abnormal synaptic transmission0 CL E G H
HP:0012535HP:0030191Abnormal peripheral nervous system synaptic transmission1 CL E G H
HP:0012535HP:0003398Abnormal synaptic transmission at the neuromuscular junction2 CL E G H
HP:0012535HP:0030201Response to drugs acting on neuromuscular transmission2 CL E G H
HP:0012535HP:0003436Prolonged miniature endplate currents3 CL E G H
HP:0012535HP:0003402Decreased miniature endplate potentials3 CL E G H
HP:0012535HP:0030203Unfavorable response of muscle weakness to acetylcholine esterase inhibitors3 CL E G H
HP:0012535HP:0003473Fatigable weakness3 CL E G H
HP:0012535HP:0030202Favorable response of weakness to acetylcholine esterase inhibitors3 CL E G H
HP:0012535HP:0003397Generalized hypotonia due to defect at the neuromuscular junction3 CL E G H
HP:0012535HP:0030196Fatigable weakness of respiratory muscles4 CL E G H
HP:0012535HP:0030192Fatigable weakness of bulbar muscles4 CL E G H
HP:0012535HP:0030197Fatigable weakness of skeletal muscles4 CL E G H
HP:0012535HP:0030200Fatiguable weakness of proximal limb muscles5 CL E G H
HP:0012535HP:0030195Fatigable weakness of swallowing muscles5 CL E G H
HP:0012535HP:0030199Fatigable weakness of neck muscles5 CL E G H
HP:0012535HP:0030198Fatigable weakness of distal limb muscles5 CL E G H
HP:0012535HP:0030194Fatigable weakness of speech muscles5 CL E G H
HP:0012535HP:0030193Fatigable weakness of chewing muscles5 CL E G H


Genes (96) :ACAD9 ACADL ACTA1 AGRN AK9 ALG14 ALG2 ANG ANXA11 ATXN2 C9ORF72 CACNA1S CASQ1 CASR CCNF CFAP410 CFL2 CHAT CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COA8 COL13A1 COLQ DAO DCTN1 DKK1 DOK7 DPAGT1 EPHA4 ERBB4 FIG4 FUS GFPT1 GLE1 GMPPB GNA11 HACD1 HINT1 HNRNPA1 ITGA7 KBTBD13 KCNE3 KLHL41 KRT14 KRT5 LAMB2 LMNA LMOD3 LRP4 MAP3K20 MATR3 MUSK MYL2 MYO9A MYPN NEB NEFH NEK1 OPTN ORAI1 PFN1 PLEC PON1 PON2 PON3 PPARGC1A PRPH RAPSN RNASEH1 RRM2B RYR1 SCN4A SELENON SLC18A3 SLC25A1 SLC5A7 SNAP25 SOD1 SQSTM1 STIM1 SYT2 TAF15 TARDBP TBK1 TPM2 TPM3 TREM2 UBQLN2 UNC13A VAMP1 VAPB VCP

Diseases (34) :99901 99900 98914 98913 353327 616227 616228 428 254210 608930 601462 605809 608931 98915 603034 254300 610542 79399 257 424107 614198 171439 2020 171436 803 681 363623 329336 2593 436271 268882 324442 264 171881
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.