Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Dysarthria (HP:0001260)help
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Dysphagia (HP:0002015)help
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Dysphonia (HP:0001618)help
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Paralysis (HP:0003470)help
Parent Node:
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Pseudobulbar signs (HP:0002200)help
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Pseudobulbar paralysis (HP:0007024)help
Term ID: 7024
Name: Pseudobulbar paralysis
Synonym: Pseudobulbar palsy; Pseudobulbar syndrome
Definition: Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
Comments:
Reference: HP:0007024
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPseudobulbar behavioral symptoms (HP:0002193) 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:0007024HP:0007024Pseudobulbar paralysis0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0007024HP:0007024Pseudobulbar paralysis0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0007024HP:0007024Pseudobulbar paralysis0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0007024HP:0007024Pseudobulbar paralysis0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0007024HP:0007024Pseudobulbar paralysis0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040283 - Occasional25
HP:0007024HP:0007024Pseudobulbar paralysis0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0007024HP:0007024Pseudobulbar paralysis0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 1.86
HP:0007024HP:0007024Pseudobulbar paralysis0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0007024HP:0007024Pseudobulbar paralysis0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0007024HP:0007024Pseudobulbar paralysis0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0007024HP:0007024Pseudobulbar paralysis0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0007024HP:0007024Pseudobulbar paralysis0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 1.24
HP:0007024HP:0007024Pseudobulbar paralysis0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0007024HP:0007024Pseudobulbar paralysis0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0007024HP:0007024Pseudobulbar paralysis0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0007024HP:0007024Pseudobulbar paralysis0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 1.25
HP:0007024HP:0007024Pseudobulbar paralysis0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0007024HP:0007024Pseudobulbar paralysis0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0007024HP:0007024Pseudobulbar paralysis0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 1.53
HP:0007024HP:0007024Pseudobulbar paralysis0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0007024HP:0007024Pseudobulbar paralysis0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0007024HP:0007024Pseudobulbar paralysis0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0007024HP:0007024Pseudobulbar paralysis0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189


Genes (22) :ACTB ADGRG1 ALDH18A1 ALS2 B4GALNT1 CYP27A1 DCTN1 FIG4 HMBS HTRA1 LMNB1 NEFH NONO NOTCH3 PI4KA PRPH RARS1 SEC31A SOD1 SRPX2 TGM6 ZFYVE26

Diseases (18) :OMIM:607371 ORPHA:98889 OMIM:616586 OMIM:606353 ORPHA:101006 OMIM:213700 OMIM:105400 ORPHA:208441 ORPHA:79276 ORPHA:199354 OMIM:169500 ORPHA:466791 OMIM:125310 ORPHA:438114 OMIM:618651 OMIM:613908 ORPHA:276193 ORPHA:100996
 

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