MCID: PRG007
MIFTS: 38

Progressive Bulbar Palsy

Categories: Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Progressive Bulbar Palsy

MalaCards integrated aliases for Progressive Bulbar Palsy:

Name: Progressive Bulbar Palsy 11 19 14 16 75 33
Bulbar Palsy, Progressive 43 71
Pbp - [progressive Bulbar Palsy] 33
Supranuclear Bulbar Paralysis 33
Progressive Bulbar Paralysis 33
Progressive Bulbar Atrophy 19
Chronic Bulbar Paralysis 33
Chronic Bulbar Palsy 33
Bulbar Paralysis 33
Bulbar Palsy 33

Classifications:



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Disease Ontology 11 DOID:681
ICD9CM 34 335.22
MeSH 43 D010244
NCIt 49 C85026
SNOMED-CT 68 54304004
ICD11 33 1143049440
UMLS 71 C0030442

Summaries for Progressive Bulbar Palsy

GARD: 19 A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)

MalaCards based summary: Progressive Bulbar Palsy, also known as bulbar palsy, progressive, is related to riboflavin transporter deficiency and brown-vialetto-van laere syndrome 1. An important gene associated with Progressive Bulbar Palsy is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include spinal cord, tongue and cortex.

Wikipedia: 75 Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor... more...

Related Diseases for Progressive Bulbar Palsy

Diseases related to Progressive Bulbar Palsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency 32.7 SLC52A3 SLC52A2
2 brown-vialetto-van laere syndrome 1 32.1 SLC52A3 SLC52A2
3 fazio-londe disease 31.3 SLC52A3 SLC52A2 SLC52A1 SLC25A32 FLAD1 ETFDH
4 spinocerebellar ataxia 2 30.4 VAPB UBQLN2 SOD1 SETX FUS C9orf72
5 spinal muscular atrophy 30.3 VAPB SOD1 FUS C9orf72
6 cranial nerve palsy 30.1 SLC52A3 SLC52A1
7 pseudobulbar palsy 30.0 SOD1 FUS C9orf72
8 motor neuron disease 29.9 VAPB UBQLN2 SOD1 SLC52A3 SLC52A2 SLC52A1
9 dementia, lewy body 29.8 SOD1 FUS C9orf72
10 creutzfeldt-jakob disease 29.8 SOD1 FUS C9orf72
11 axonal neuropathy 29.5 SETX NEFH ALS2
12 movement disease 29.4 SOD1 FUS C9orf72
13 muscular atrophy 29.4 VAPB SETX FUS C9orf72
14 hereditary ataxia 29.3 SOD1 SETX FUS C9orf72
15 supranuclear palsy, progressive, 1 29.3 UBQLN2 SOD1 NEFH FUS C9orf72
16 myopathy 29.1 SOD1 FUS FLAD1 ETFDH ETFB ETFA
17 autosomal dominant cerebellar ataxia 29.0 UBQLN2 SOD1 SETX FUS C9orf72
18 brown-vialetto-van laere syndrome 28.8 UBQLN2 SLC52A3 SLC52A2 SLC52A1 SLC25A32 FLAD1
19 amyotrophic lateral sclerosis 1 28.5 VAPB UNC13A UBQLN2 SOD1 SETX NEFH
20 progressive muscular atrophy 28.5 VAPB UNC13A UBQLN2 SOD1 SETX NEFH
21 lateral sclerosis 28.2 VAPB UNC13A UBQLN2 SOD1 SETX NEFH
22 pallister w syndrome 11.2
23 spastic paraplegia 31, autosomal dominant 11.2
24 variegate porphyria 11.1
25 myasthenic syndrome, congenital, 6, presynaptic 11.1
26 myasthenic syndrome, congenital, 16 11.1
27 papillon-lefevre syndrome 10.7
28 guillain-barre syndrome, familial 10.5
29 guillain-barre syndrome 10.5
30 bell's palsy 10.3
31 facial paralysis 10.3
32 chronic apical periodontitis 10.3 SLC52A3 SLC52A2
33 dry beriberi 10.3 SLC52A3 SLC52A2
34 kearns-sayre syndrome 10.2
35 pharyngeal-cervical-brachial variant of guillain-barre syndrome 10.2
36 postpoliomyelitis syndrome 10.2 SOD1 C9orf72
37 brown-vialetto-van laere syndrome 2 10.2 SLC52A3 SLC52A2 SLC52A1
38 ideomotor apraxia 10.2 FUS C9orf72
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.2 SOD1 C9orf72
40 nominal aphasia 10.2 FUS C9orf72
41 poliomyelitis 10.2
42 prosopagnosia 10.2 FUS C9orf72
43 aspiration pneumonia 10.2
44 amyotrophic lateral sclerosis type 22 10.2 UBQLN2 C9orf72
45 aceruloplasminemia 10.1
46 parkinsonism 10.1
47 miller fisher syndrome 10.1
48 polyneuropathy 10.1
49 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 SOD1 FUS C9orf72
50 nuclear type mitochondrial complex i deficiency 10.1 ETFDH ACAD9

Comorbidity relations with Progressive Bulbar Palsy via Phenotypic Disease Network (PDN):


Acute Cystitis Protein-Energy Malnutrition
Swallowing Disorders

Graphical network of the top 20 diseases related to Progressive Bulbar Palsy:



Diseases related to Progressive Bulbar Palsy

Symptoms & Phenotypes for Progressive Bulbar Palsy

Drugs & Therapeutics for Progressive Bulbar Palsy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2

Search NIH Clinical Center for Progressive Bulbar Palsy

Cochrane evidence based reviews: bulbar palsy, progressive

Genetic Tests for Progressive Bulbar Palsy

Anatomical Context for Progressive Bulbar Palsy

Organs/tissues related to Progressive Bulbar Palsy:

MalaCards : Spinal Cord, Tongue, Cortex, Brain, Bone Marrow, Bone, Medulla Oblongata

Publications for Progressive Bulbar Palsy

Articles related to Progressive Bulbar Palsy:

(show top 50) (show all 677)
# Title Authors PMID Year
1
Herbal medicine and acupuncture relieved progressive bulbar palsy for more than 3 years: A case report. 62
36397351 2022
2
Acute Bulbar Palsy and Ophtalmoplegia Associated With Anti-GT1a IgG Antibodies. 62
34967823 2022
3
Gelsolin variant amyloidosis mimicking progressive bulbar palsy. 62
36047766 2022
4
Modified Erasmus GBS Respiratory Insufficiency Score: a simplified clinical tool to predict the risk of mechanical ventilation in Guillain-Barré syndrome. 62
36428088 2022
5
A study of rhino-orbito-cerebral mucormycosis with COVID-19: A new challenge in North West of Rajasthan. 62
36412339 2022
6
Vertebral artery dissection induced lateral medullary syndrome characterized with severe bradycardia: a case report and review of the literature. 62
36367000 2022
7
A 44-Year-Old Alcohol-Dependent Man Who Recovered from Central Pontine Myelinolysis with Supportive Physical Therapy. 62
36081331 2022
8
Amyotrophic lateral sclerosis with TDP-43 abnormalities exhibiting globular glial tau inclusions in frontotemporal lobes and pallido-nigral system. 62
36003035 2022
9
[A case of amyotrophic lateral sclerosis presenting with rapid progression of respiratory deterioration due to severe obesity]. 62
35613859 2022
10
Guillain-barré syndrome without limb weakness: A rare variant with acute bulbar palsy. 62
36353017 2022
11
Microsurgical Management of Fourth Ventricle Lesions Via the Median Suboccipital Keyhole Telovelar Approach. 62
35968951 2022
12
Effects of Transcranial Direct Current Stimulation on Poststroke Dysphagia: A Systematic Review and Meta-analysis of Randomized Controlled Trials. 62
35337844 2022
13
Recent advances in riboflavin transporter RFVT and its genetic disease. 62
34662687 2022
14
Isolated bulbar palsy and dysphagia in children with respiratory symptoms. 62
34601721 2022
15
Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report. 62
36425948 2022
16
[A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant]. 62
35228463 2022
17
Affection of Respiratory Muscles in ALS and SMA. 62
35268254 2022
18
[Oral hygiene in patients with motor neuron disease: a cross-sectional survey]. 62
35133737 2022
19
Impact of Thickened Liquids on Laryngeal Movement Velocity in Patients with Dysphagia. 62
33709290 2022
20
[A Case of Bilateral Medial Medullary Infarction With Heart Appearance Sign]. 62
36464311 2022
21
Clinical Profile and Outcome in Children with Post Diphtheritic Paralysis in a Tertiary Care Hospital in Southern India. 62
35497109 2022
22
Segmental alterations of the corpus callosum in motor neuron disease: A DTI and texture analysis in 575 patients. 62
35653913 2022
23
Acute Bulbar Palsy-Plus Variant of Guillain-Barré Syndrome in a 3-Year-Old Girl. 62
35936111 2022
24
Clinical predictors and electrodiagnostic characteristics in patients with Guillain-Barré syndrome with respiratory failure: a retrospective, matched case-control study. 62
35186497 2022
25
A Strength Endurance Exercise Paradigm Mitigates Deficits in Hypoglossal-Tongue Axis Function, Strength, and Structure in a Rodent Model of Hypoglossal Motor Neuron Degeneration. 62
35844238 2022
26
Case Report: Guillain-Barré Syndrome Characterized by Severe Headache Associated With Metabotropic Glutamate Receptor 5 Antibody. 62
35386694 2022
27
Current state of research on acupuncture for the treatment of amyotrophic lateral sclerosis: A scoping review. 62
36408510 2022
28
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects. 62
36340727 2022
29
Severe dysautonomia in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus (PERM): A case report. 62
34801829 2022
30
Disseminated Strongyloidiasis Misdiagnosed as Guillain-Barré Syndrome: The Value of High-Throughput Genetic Sequencing of Pathogenic Microorganisms in Parasitic Infections. 62
36172625 2022
31
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations. 62
36186484 2022
32
The Resting-State Brain Network Functional Connectivity Changes in Patients With Acute Thyrotoxic Myopathy Based on Independent Component Analysis. 62
35399921 2022
33
BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene. 62
34737166 2021
34
Facial onset sensory and motor neuropathy in a pain clinic outpatient: a case report. 62
34949222 2021
35
Rare Case of Central Pontine Myelinolysis: Etiological Dilemma. 62
34956766 2021
36
An Unusual Cause of Bulbar Palsy in the Emergency Department. 62
34521547 2021
37
Disease duration of progression is helpful in identifying isolated bulbar palsy of amyotrophic lateral sclerosis. 62
34686150 2021
38
Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome in a Patient of COVID-19 Infection. 62
34548992 2021
39
Brain MRI in a Case of Recurrent Unexplained Vomiting and Bulbar Palsy: "Area Postrema Syndrome". 62
34747859 2021
40
Infant botulism: an underestimated threat. 62
33966588 2021
41
Prevalence of multimorbidity and its impact on survival in people with motor neuron disease. 62
34036680 2021
42
A Rare Case Report of Guillain-Barré Syndrome Presenting as Unilateral Facial Palsy with Isolated Acute Bulbar Palsy. 62
36160624 2021
43
Bulbar Palsy as the Initial Manifestation of Multiple Myeloma: A Case Report. 62
33478800 2021
44
Clinical Profile and Predictors of Mechanical Ventilation in Guillain-Barre Syndrome in North Indian Children. 62
33331796 2021
45
Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis. 62
33908214 2021
46
SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature. 62
33125541 2021
47
Neurological Manifestations of COVID-19 Associated Multi-system Inflammatory Syndrome in Children: A Systematic Review and Meta-analysis. 62
33934126 2021
48
Isolated bulbar palsy after SARS-CoV-2 infection. 62
33609467 2021
49
Basilar invagination: A mimicker of bulbar-onset amyotrophic lateral sclerosis. 62
33553704 2021
50
Ultrasound, electromyography, and balloon guidance for injecting botulinum toxin for cricopharyngeal achalasia: A case report. 62
33725963 2021

Variations for Progressive Bulbar Palsy

Expression for Progressive Bulbar Palsy

Search GEO for disease gene expression data for Progressive Bulbar Palsy.

Pathways for Progressive Bulbar Palsy

GO Terms for Progressive Bulbar Palsy

Cellular components related to Progressive Bulbar Palsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.65 SOD1 FLAD1 ETFDH ETFB ETFA
2 electron transfer flavoprotein complex GO:0045251 8.92 ETFB ETFA

Biological processes related to Progressive Bulbar Palsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of autophagosome assembly GO:2000785 9.73 UBQLN2 C9orf72
2 respiratory electron transport chain GO:0022904 9.73 ETFA ETFB ETFDH
3 electron transport chain GO:0022900 9.71 ETFDH ETFB ETFA
4 neurofilament cytoskeleton organization GO:0060052 9.67 SOD1 NEFH
5 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.63 ETFDH ETFB ETFA
6 amino acid catabolic process GO:0009063 9.62 ETFB ETFA
7 riboflavin transport GO:0032218 9.43 SLC52A3 SLC52A2 SLC52A1
8 riboflavin metabolic process GO:0006771 9.23 SLC52A3 SLC52A2 SLC52A1 FLAD1

Molecular functions related to Progressive Bulbar Palsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.63 ETFDH ETFA ACAD9
2 molecular condensate scaffold activity GO:0140693 9.56 UBQLN2 FUS
3 electron transfer activity GO:0009055 9.43 ETFDH ETFB ETFA
4 riboflavin transmembrane transporter activity GO:0032217 9.1 SLC52A3 SLC52A2 SLC52A1

Sources for Progressive Bulbar Palsy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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