Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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EMG abnormality (HP:0003457)help
..Starting node
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Single fiber EMG abnormality (HP:0030006)help
Term ID: 30006
Name: Single fiber EMG abnormality
Synonym: Single fibre EMG abnormality
Definition: Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.
Comments:
Reference: HP:0030006
Genes and Diseases:
 
       Child Nodes:
........expandIncreased jitter at single fibre EMG (HP:0030205) help

 Sister Nodes: 
..expandEMG: axonal abnormality (HP:0003482) help
..expandEMG: continuous motor unit activity at rest (HP:0100283) help
..expandEMG: impaired neuromuscular transmission (HP:0100285) help
..expandEMG: myokymic discharges (HP:0100288) help
..expandEMG: myopathic abnormalities (HP:0003458) help
..expandEMG: myotonic discharges (HP:0100284) help
..expandEMG: neuropathic changes (HP:0003445) help
..expandEMG: repetitive nerve stimulation abnormality (HP:0030000) help
..expandEMG: slow motor conduction (HP:0100287) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030006HP:0030006Single fiber EMG abnormality0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0030006HP:0030006Single fiber EMG abnormality0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0030006HP:0030006Single fiber EMG abnormality0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0030006HP:0030006Single fiber EMG abnormality0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0030006HP:0030006Single fiber EMG abnormality0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0030006HP:0030006Single fiber EMG abnormality0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0030006HP:0030006Single fiber EMG abnormality0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0030006HP:0030006Single fiber EMG abnormality0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0030006HP:0030205Increased jitter at single fiber EMG1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0030006HP:0030205Increased jitter at single fiber EMG1ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0030006HP:0030205Increased jitter at single fiber EMG1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0030006HP:0030205Increased jitter at single fiber EMG1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0030006HP:0030205Increased jitter at single fiber EMG1DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0030006HP:0030205Increased jitter at single fiber EMG1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0030006HP:0030205Increased jitter at single fiber EMG1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0030006HP:0030205Increased jitter at single fiber EMG1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28


Genes (6) :ALG14 ALG2 DPAGT1 GFPT1 GMPPB SLC25A1

Diseases (4) :ORPHA:353327 OMIM:616227 OMIM:614750 OMIM:618197
 

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