Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle physiology (HP:0011804)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Muscle weakness (HP:0001324)help
..Starting node
..expand
Bulbar palsy (HP:0001283)help
Term ID: 1283
Name: Bulbar palsy
Synonym: Bulbar muscle weakness; Bulbar palsies; Bulbar weakness
Definition: Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Comments:
Reference: HP:0001283
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001283HP:0001283Bulbar palsy0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1106561300371
HP:0001283HP:0001283Bulbar palsy0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM196661300371
HP:0001283HP:0001283Bulbar palsy0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0001283HP:0001283Bulbar palsy0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0001283HP:0001283Bulbar palsy0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0001283HP:0001283Bulbar palsy0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0001283HP:0001283Bulbar palsy0AGRN CL E G H37579098914ORPHA11579329103320
HP:0001283HP:0001283Bulbar palsy0AGRN CL E G H37579098914ORPHA11309329103320
HP:0001283HP:0001283Bulbar palsy0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0001283HP:0001283Bulbar palsy0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0001283HP:0001283Bulbar palsy0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001283HP:0001283Bulbar palsy0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001283HP:0001283Bulbar palsy0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0001283HP:0001283Bulbar palsy0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0001283HP:0001283Bulbar palsy0CHAT CL E G H110398914ORPHA16521912118490
HP:0001283HP:0001283Bulbar palsy0CHAT CL E G H110398914ORPHA15111912118490
HP:0001283HP:0001283Bulbar palsy0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM16521912118490
HP:0001283HP:0001283Bulbar palsy0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM15111912118490
HP:0001283HP:0001283Bulbar palsy0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0001283HP:0001283Bulbar palsy0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0001283HP:0001283Bulbar palsy0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0001283HP:0001283Bulbar palsy0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0001283HP:0001283Bulbar palsy0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM16731966100725
HP:0001283HP:0001283Bulbar palsy0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM15991966100725
HP:0001283HP:0001283Bulbar palsy0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0001283HP:0001283Bulbar palsy0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0001283HP:0001283Bulbar palsy0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0001283HP:0001283Bulbar palsy0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0001283HP:0001283Bulbar palsy0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0001283HP:0001283Bulbar palsy0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0001283HP:0001283Bulbar palsy0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0001283HP:0001283Bulbar palsy0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0001283HP:0001283Bulbar palsy0GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM12854620137350
HP:0001283HP:0001283Bulbar palsy0GSN CL E G H2934105120Meretoja syndrome105120C1622345OMIM11724620137350
HP:0001283HP:0001283Bulbar palsy0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM13086649616112
HP:0001283HP:0001283Bulbar palsy0LMOD3 CL E G H56203616165Nemaline myopathy 10616165C4015360OMIM12406649616112
HP:0001283HP:0001283Bulbar palsy0MATR3 CL E G H9782600ORPHA12996912164015
HP:0001283HP:0001283Bulbar palsy0MATR3 CL E G H9782600ORPHA12496912164015
HP:0001283HP:0001283Bulbar palsy0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12996912164015
HP:0001283HP:0001283Bulbar palsy0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12496912164015
HP:0001283HP:0001283Bulbar palsy0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM132927577160760
HP:0001283HP:0001283Bulbar palsy0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM129607577160760
HP:0001283HP:0001283Bulbar palsy0MYO9A CL E G H464998914ORPHA11687608604875
HP:0001283HP:0001283Bulbar palsy0MYO9A CL E G H464998914ORPHA11647608604875
HP:0001283HP:0001283Bulbar palsy0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0001283HP:0001283Bulbar palsy0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0001283HP:0001283Bulbar palsy0PLAA CL E G H9373521426ORPHA12229043603873
HP:0001283HP:0001283Bulbar palsy0PLAA CL E G H9373521426ORPHA1969043603873
HP:0001283HP:0001283Bulbar palsy0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM12229043603873
HP:0001283HP:0001283Bulbar palsy0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM1969043603873
HP:0001283HP:0001283Bulbar palsy0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1460410483180901
HP:0001283HP:0001283Bulbar palsy0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1410110483180901
HP:0001283HP:0001283Bulbar palsy0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM150515999606210
HP:0001283HP:0001283Bulbar palsy0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM145415999606210
HP:0001283HP:0001283Bulbar palsy0SLC18A3 CL E G H657298914ORPHA116510936600336
HP:0001283HP:0001283Bulbar palsy0SLC18A3 CL E G H657298914ORPHA110210936600336
HP:0001283HP:0001283Bulbar palsy0SLC25A1 CL E G H657698914ORPHA149810979190315
HP:0001283HP:0001283Bulbar palsy0SLC25A1 CL E G H657698914ORPHA147010979190315
HP:0001283HP:0001283Bulbar palsy0SLC52A2 CL E G H7958197229ORPHA139130224607882
HP:0001283HP:0001283Bulbar palsy0SLC52A2 CL E G H7958197229ORPHA132830224607882
HP:0001283HP:0001283Bulbar palsy0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM139130224607882
HP:0001283HP:0001283Bulbar palsy0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM132830224607882
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H11327897229ORPHA136316187613350
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H11327897229ORPHA131416187613350
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM136316187613350
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM131416187613350
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM136316187613350
HP:0001283HP:0001283Bulbar palsy0SLC52A3 CL E G H113278211500Progressive bulbar palsy of childhood211500C0393540OMIM131416187613350
HP:0001283HP:0001283Bulbar palsy0SLC5A7 CL E G H6048298914ORPHA131514025608761
HP:0001283HP:0001283Bulbar palsy0SLC5A7 CL E G H6048298914ORPHA125914025608761
HP:0001283HP:0001283Bulbar palsy0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM131514025608761
HP:0001283HP:0001283Bulbar palsy0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM125914025608761
HP:0001283HP:0001283Bulbar palsy0SNAP25 CL E G H661698914ORPHA114811132600322
HP:0001283HP:0001283Bulbar palsy0SNAP25 CL E G H661698914ORPHA112711132600322
HP:0001283HP:0001283Bulbar palsy0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM147311280601530
HP:0001283HP:0001283Bulbar palsy0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM138311280601530
HP:0001283HP:0001283Bulbar palsy0SYT2 CL E G H12783398914ORPHA112311510600104
HP:0001283HP:0001283Bulbar palsy0SYT2 CL E G H12783398914ORPHA17911510600104
HP:0001283HP:0001283Bulbar palsy0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM126911584604834
HP:0001283HP:0001283Bulbar palsy0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM120611584604834
HP:0001283HP:0001283Bulbar palsy0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM124212011190990
HP:0001283HP:0001283Bulbar palsy0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM123412011190990
HP:0001283HP:0001283Bulbar palsy0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128312012191030
HP:0001283HP:0001283Bulbar palsy0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM126112012191030
HP:0001283HP:0001283Bulbar palsy0VAMP1 CL E G H684398914ORPHA19912642185880
HP:0001283HP:0001283Bulbar palsy0VAMP1 CL E G H684398914ORPHA18312642185880
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001283HP:0001283Bulbar palsy0C9orf72 CL E G H203228275872ORPHA016528337614260
HP:0001283HP:0001283Bulbar palsy0C9orf72 CL E G H203228275872ORPHA016128337614260
HP:0001283HP:0001283Bulbar palsy0CHCHD10 CL E G H400916275872ORPHA023015559615903
HP:0001283HP:0001283Bulbar palsy0CHCHD10 CL E G H400916275872ORPHA020515559615903
HP:0001283HP:0001283Bulbar palsy0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM038314888611332
HP:0001283HP:0001283Bulbar palsy0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM034614888611332
HP:0001283HP:0001283Bulbar palsy0FUS CL E G H2521275872ORPHA03394010137070
HP:0001283HP:0001283Bulbar palsy0FUS CL E G H2521275872ORPHA03234010137070
HP:0001283HP:0001283Bulbar palsy0SQSTM1 CL E G H8878275872ORPHA047311280601530
HP:0001283HP:0001283Bulbar palsy0SQSTM1 CL E G H8878275872ORPHA038311280601530
HP:0001283HP:0001283Bulbar palsy0TARDBP CL E G H23435275872ORPHA022511571605078
HP:0001283HP:0001283Bulbar palsy0TARDBP CL E G H23435275872ORPHA021411571605078
HP:0001283HP:0001283Bulbar palsy0TBK1 CL E G H29110275872ORPHA026911584604834
HP:0001283HP:0001283Bulbar palsy0TBK1 CL E G H29110275872ORPHA020611584604834
HP:0001283HP:0001283Bulbar palsy0TK2 CL E G H7084254875ORPHA029911831188250
HP:0001283HP:0001283Bulbar palsy0TK2 CL E G H7084254875ORPHA023011831188250
HP:0001283HP:0001283Bulbar palsy0VCP CL E G H7415275872ORPHA039512666601023
HP:0001283HP:0001283Bulbar palsy0VCP CL E G H7415275872ORPHA035612666601023


Genes (40) :ABCD1 ACTA1 AGRN AR ARSA ATXN1 C9ORF72 CHAT CHCHD10 CHRNA1 CHRNE COL13A1 DES DNAJB6 DOK7 FUS GSN LMOD3 MATR3 MYH7 MYO9A NEB PLAA RYR1 SELENON SLC18A3 SLC25A1 SLC52A2 SLC52A3 SLC5A7 SNAP25 SQSTM1 SYT2 TARDBP TBK1 TK2 TPM2 TPM3 VAMP1 VCP

Diseases (31) :300100 255310 161800 98914 313200 250100 164400 275872 254210 615911 608930 605809 616720 601419 603511 254300 105120 616165 600 606070 256030 521426 617527 97229 614707 211530 211500 617143 616437 616439 254875
 

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