Human Phenotype Ontology 
Grandparent Node:
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Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Fatigable weakness (HP:0003473)help
..Starting node
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Fatigable weakness of bulbar muscles (HP:0030192)help
Term ID: 30192
Name: Fatigable weakness of bulbar muscles
Synonym:
Definition: A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Comments:
Reference: HP:0030192
Genes and Diseases:
 
       Child Nodes:
........expandFatigable weakness of chewing muscles (HP:0030193) help
........expandFatigable weakness of speech muscles (HP:0030194) help
........expandFatigable weakness of swallowing muscles (HP:0030195) help

 Sister Nodes: 
..expandFatigable weakness of respiratory muscles (HP:0030196) help
..expandFatigable weakness of skeletal muscles (HP:0030197) 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:0030192HP:0030192Fatigable weakness of bulbar muscles0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0DES CL E G H16742770ORPHA:98909DesminopathyHP:0040283 - Occasional263
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent65
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent116
HP:0030192HP:0030192Fatigable weakness of bulbar muscles0VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent63
HP:0030192HP:0030193Fatigable weakness of chewing muscles1 CL E G H
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent32
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent56
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent11
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent42
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent86
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent15
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent111
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent45
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent80
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent24
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent101
HP:0030192HP:0030194Fatigable weakness of speech muscles1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent4
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent2
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent25
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1SOD1 CL E G H664711179ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent53
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1SQSTM1 CL E G H887811280ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent62
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1TAF15 CL E G H814811547ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1TARDBP CL E G H2343511571ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent65
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1TBK1 CL E G H2911011584ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1TREM2 CL E G H5420917761ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent31
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1UBQLN2 CL E G H2997812509ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent20
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1UNC13A CL E G H2302523150ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent1
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1VAPB CL E G H921712649ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent116
HP:0030192HP:0030195Fatigable weakness of swallowing muscles1VCP CL E G H741512666ORPHA:803Amyotrophic lateral sclerosisHP:0040282 - Frequent63


Genes (60) :ACTA1 ANG ANXA11 ATXN2 C9ORF72 CCNF CFAP410 CHCHD10 CHMP2B COA8 COX1 COX3 DAO DCTN1 DES DKK1 EPHA4 ERBB4 FIG4 FUS GIPC1 GLE1 GLT8D1 GMPPB HACD1 HNRNPA1 ITGA7 KBTBD13 KLHL41 LPIN1 MAP3K20 MATR3 MTM1 MYL2 MYPN NEB NEFH NEK1 NGLY1 NOTCH2NLC OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH SELENON SOD1 SQSTM1 TAF15 TARDBP TBK1 TPM2 TPM3 TREM2 UBQLN2 UNC13A VAPB VCP

Diseases (11) :ORPHA:171439 ORPHA:2020 ORPHA:803 ORPHA:436271 ORPHA:99845 ORPHA:98909 ORPHA:268882 ORPHA:98897 ORPHA:363623 ORPHA:596 ORPHA:404454
 

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