Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
..Starting node
..expand
Pseudobulbar signs (HP:0002200)help
Term ID: 2200
Name: Pseudobulbar signs
Synonym: Pseudobulbar symptoms
Definition: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
Comments:
Reference: HP:0002200
Genes and Diseases:
 
       Child Nodes:
........expandPseudobulbar behavioral symptoms (HP:0002193) help
........expandPseudobulbar paralysis (HP:0007024) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002200HP:0002200Pseudobulbar signs0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0002200HP:0002200Pseudobulbar signs0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0002200HP:0002200Pseudobulbar signs0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0002200HP:0002200Pseudobulbar signs0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0002200HP:0002200Pseudobulbar signs0SPG7 CL E G H668735689ORPHA172611237602783
HP:0002200HP:0002200Pseudobulbar signs0SPG7 CL E G H668735689ORPHA164811237602783
HP:0002200HP:0007024Pseudobulbar paralysis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0002200HP:0007024Pseudobulbar paralysis1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0002200HP:0007024Pseudobulbar paralysis1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0002200HP:0007024Pseudobulbar paralysis1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1SPG7 CL E G H668735689ORPHA172611237602783
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1SPG7 CL E G H668735689ORPHA164811237602783
HP:0002200HP:0007024Pseudobulbar paralysis1SPG7 CL E G H668735689ORPHA172611237602783
HP:0002200HP:0007024Pseudobulbar paralysis1SPG7 CL E G H668735689ORPHA164811237602783
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002200HP:0002200Pseudobulbar signs0DNMT1 CL E G H1786314404ORPHA08322976126375
HP:0002200HP:0002200Pseudobulbar signs0DNMT1 CL E G H1786314404ORPHA07492976126375
HP:0002200HP:0002200Pseudobulbar signs0GM2A CL E G H2760309246ORPHA01534367613109
HP:0002200HP:0002200Pseudobulbar signs0GM2A CL E G H2760309246ORPHA01424367613109
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1DNMT1 CL E G H1786314404ORPHA08322976126375
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1DNMT1 CL E G H1786314404ORPHA07492976126375
HP:0002200HP:0007024Pseudobulbar paralysis1DNMT1 CL E G H1786314404ORPHA08322976126375
HP:0002200HP:0007024Pseudobulbar paralysis1DNMT1 CL E G H1786314404ORPHA07492976126375
HP:0002200HP:0007024Pseudobulbar paralysis1GM2A CL E G H2760309246ORPHA01534367613109
HP:0002200HP:0007024Pseudobulbar paralysis1GM2A CL E G H2760309246ORPHA01424367613109
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1GM2A CL E G H2760309246ORPHA01534367613109
HP:0002200HP:0002193Pseudobulbar behavioral symptoms1GM2A CL E G H2760309246ORPHA01424367613109


Genes (19) :ALDH18A1 ALS2 AP4M1 B4GALNT1 CYP27A1 DNMT1 ERLIN2 FUS GM2A HTRA1 LMNB1 NOTCH3 RARS SIGMAR1 SOD1 SPG11 SPG7 TGM6 ZFYVE26

Diseases (20) :612936 314404 309246 600142 35689 616586 293168 247604 205100 300605 606353 101006 213700 209951 169500 125310 438114 105400 276193 100996
 

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