Human Phenotype Ontology 
Grandparent Node:
expand
EMG abnormality (HP:0003457)help
Parent Node:
expand
EMG: neuropathic changes (HP:0003445)help
..Starting node
..expand
EMG: chronic denervation signs (HP:0003444)help
Term ID: 3444
Name: EMG: chronic denervation signs
Synonym:
Definition: Evidence of chronic denervation on electromyography.
Comments:
Reference: HP:0003444
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003444HP:0003444EMG: chronic denervation signs0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0003444HP:0003444EMG: chronic denervation signs0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0003444HP:0003444EMG: chronic denervation signs0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0003444HP:0003444EMG: chronic denervation signs0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0003444HP:0003444EMG: chronic denervation signs0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0003444HP:0003444EMG: chronic denervation signs0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent3
HP:0003444HP:0003444EMG: chronic denervation signs0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0003444HP:0003444EMG: chronic denervation signs0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent
HP:0003444HP:0003444EMG: chronic denervation signs0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003444HP:0003444EMG: chronic denervation signs0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0003444HP:0003444EMG: chronic denervation signs0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0003444HP:0003444EMG: chronic denervation signs0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0003444HP:0003444EMG: chronic denervation signs0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003444HP:0003444EMG: chronic denervation signs0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0003444HP:0003444EMG: chronic denervation signs0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0003444HP:0003444EMG: chronic denervation signs0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003444HP:0003444EMG: chronic denervation signs0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040283 - Occasional214
HP:0003444HP:0003444EMG: chronic denervation signs0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0003444HP:0003444EMG: chronic denervation signs0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0003444HP:0003444EMG: chronic denervation signs0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0003444HP:0003444EMG: chronic denervation signs0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0003444HP:0003444EMG: chronic denervation signs0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0003444HP:0003444EMG: chronic denervation signs0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0003444HP:0003444EMG: chronic denervation signs0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0003444HP:0003444EMG: chronic denervation signs0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent
HP:0003444HP:0003444EMG: chronic denervation signs0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040281 - Very frequent493
HP:0003444HP:0003444EMG: chronic denervation signs0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0003444HP:0003444EMG: chronic denervation signs0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003444HP:0003444EMG: chronic denervation signs0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003444HP:0003444EMG: chronic denervation signs0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0003444HP:0003444EMG: chronic denervation signs0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0003444HP:0003444EMG: chronic denervation signs0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040281 - Very frequent13
HP:0003444HP:0003444EMG: chronic denervation signs0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003444HP:0003444EMG: chronic denervation signs0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63


Genes (28) :ALS2 ARSA ASAH1 COL25A1 DCAF8 ERGIC1 FBXO38 HINT1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 MFN2 MPV17 OPA1 PLA2G6 PRPS1 PSAP SCO2 SCYL2 SH3TC2 SLC12A6 SMN1 SMN2 SPG7 TBCE TBCK VCP

Diseases (26) :OMIM:205100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:333 ORPHA:1143 OMIM:610100 OMIM:615575 ORPHA:324442 ORPHA:52430 ORPHA:99940 OMIM:608673 ORPHA:99947 OMIM:618400 ORPHA:1215 ORPHA:35069 OMIM:256600 ORPHA:1187 ORPHA:521411 ORPHA:99949 OMIM:218000 OMIM:253400 ORPHA:35689 ORPHA:496756 ORPHA:488632 OMIM:613954
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.