Progressive Bulbar Palsy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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Symptoms & Phenotypes for Progressive Bulbar Palsy

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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

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Genetic Tests for Progressive Bulbar Palsy

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Anatomical Context for Progressive Bulbar Palsy

Organs/tissues related to Progressive Bulbar Palsy:

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

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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	Peng S...Zhu W	36397351	2022
2	Acute Bulbar Palsy and Ophtalmoplegia Associated With Anti-GT1a IgG Antibodies. ⁶²	Brun G...Bejot Y	34967823	2022
3	Gelsolin variant amyloidosis mimicking progressive bulbar palsy. ⁶²	Park J...Kim SH	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	Luijten LWG...IGOS Consortium	36428088	2022
5	A study of rhino-orbito-cerebral mucormycosis with COVID-19: A new challenge in North West of Rajasthan. ⁶²	Kumar S...Meena BL	36412339	2022
6	Vertebral artery dissection induced lateral medullary syndrome characterized with severe bradycardia: a case report and review of the literature. ⁶²	Sun B...Liu S	36367000	2022
7	A 44-Year-Old Alcohol-Dependent Man Who Recovered from Central Pontine Myelinolysis with Supportive Physical Therapy. ⁶²	Tobiume M...Kariya S	36081331	2022
8	Amyotrophic lateral sclerosis with TDP-43 abnormalities exhibiting globular glial tau inclusions in frontotemporal lobes and pallido-nigral system. ⁶²	Yagita K...Honda H	36003035	2022
9	[A case of amyotrophic lateral sclerosis presenting with rapid progression of respiratory deterioration due to severe obesity]. ⁶²	Baba D...Ohtsuru S	35613859	2022
10	Guillain-barré syndrome without limb weakness: A rare variant with acute bulbar palsy. ⁶²	Chavada IJ...Natarajan V	36353017	2022
11	Microsurgical Management of Fourth Ventricle Lesions Via the Median Suboccipital Keyhole Telovelar Approach. ⁶²	Wang J...Dou Y	35968951	2022
12	Effects of Transcranial Direct Current Stimulation on Poststroke Dysphagia: A Systematic Review and Meta-analysis of Randomized Controlled Trials. ⁶²	Zhao N...Lu W	35337844	2022
13	Recent advances in riboflavin transporter RFVT and its genetic disease. ⁶²	Jin C...Yonezawa A	34662687	2022
14	Isolated bulbar palsy and dysphagia in children with respiratory symptoms. ⁶²	Zimmels S...Ismayilova N	34601721	2022
15	Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report. ⁶²	Arshiany H...Mohammadian F	36425948	2022
16	[A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant]. ⁶²	Beppu S...Mochizuki H	35228463	2022
17	Affection of Respiratory Muscles in ALS and SMA. ⁶²	Hermann W...Hermann A	35268254	2022
18	[Oral hygiene in patients with motor neuron disease: a cross-sectional survey]. ⁶²	Makizodila BAM...Volgenant CMC	35133737	2022
19	Impact of Thickened Liquids on Laryngeal Movement Velocity in Patients with Dysphagia. ⁶²	Nakao Y...Domen K	33709290	2022
20	[A Case of Bilateral Medial Medullary Infarction With Heart Appearance Sign]. ⁶²	Ohta H...Yamamoto J	36464311	2022
21	Clinical Profile and Outcome in Children with Post Diphtheritic Paralysis in a Tertiary Care Hospital in Southern India. ⁶²	Gowda VK...Shivappa SK	35497109	2022
22	Segmental alterations of the corpus callosum in motor neuron disease: A DTI and texture analysis in 575 patients. ⁶²	Munch M...Kassubek J	35653913	2022
23	Acute Bulbar Palsy-Plus Variant of Guillain-Barré Syndrome in a 3-Year-Old Girl. ⁶²	Dukkipati SS...Koh S	35936111	2022
24	Clinical predictors and electrodiagnostic characteristics in patients with Guillain-Barré syndrome with respiratory failure: a retrospective, matched case-control study. ⁶²	Charoentanyarak K...Saengsuwan J	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	Murphy ER...Lever TE	35844238	2022
26	Case Report: Guillain-Barré Syndrome Characterized by Severe Headache Associated With Metabotropic Glutamate Receptor 5 Antibody. ⁶²	Yan W...Wang C	35386694	2022
27	Current state of research on acupuncture for the treatment of amyotrophic lateral sclerosis: A scoping review. ⁶²	Peng S...Zhu W	36408510	2022
28	Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects. ⁶²	Yu Y...Wu K	36340727	2022
29	Severe dysautonomia in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus (PERM): A case report. ⁶²	Mizutani Y...Watanabe H	34801829	2022
30	Disseminated Strongyloidiasis Misdiagnosed as Guillain-Barré Syndrome: The Value of High-Throughput Genetic Sequencing of Pathogenic Microorganisms in Parasitic Infections. ⁶²	Song P...Su L	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	Zhao S...Wang Y	36186484	2022
32	The Resting-State Brain Network Functional Connectivity Changes in Patients With Acute Thyrotoxic Myopathy Based on Independent Component Analysis. ⁶²	Li Y...Zhou J	35399921	2022
33	BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene. ⁶²	Liu Z...Lu X	34737166	2021
34	Facial onset sensory and motor neuropathy in a pain clinic outpatient: a case report. ⁶²	Hanawa H...Hamaguchi S	34949222	2021
35	Rare Case of Central Pontine Myelinolysis: Etiological Dilemma. ⁶²	Maturu MVS...Dalai S	34956766	2021
36	An Unusual Cause of Bulbar Palsy in the Emergency Department. ⁶²	Ezhilkugan G...Gunaseelan R	34521547	2021
37	Disease duration of progression is helpful in identifying isolated bulbar palsy of amyotrophic lateral sclerosis. ⁶²	Zhang H...Fan D	34686150	2021
38	Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome in a Patient of COVID-19 Infection. ⁶²	Randhawa J...Toor P	34548992	2021
39	Brain MRI in a Case of Recurrent Unexplained Vomiting and Bulbar Palsy: "Area Postrema Syndrome". ⁶²	Dash SK	34747859	2021
40	Infant botulism: an underestimated threat. ⁶²	Antonucci L...Antonucci R	33966588	2021
41	Prevalence of multimorbidity and its impact on survival in people with motor neuron disease. ⁶²	Glasmacher SA...CARE-MND Consortium	34036680	2021
42	A Rare Case Report of Guillain-Barré Syndrome Presenting as Unilateral Facial Palsy with Isolated Acute Bulbar Palsy. ⁶²	Al-Mendalawi MD	36160624	2021
43	Bulbar Palsy as the Initial Manifestation of Multiple Myeloma: A Case Report. ⁶²	Li S...Wang S	33478800	2021
44	Clinical Profile and Predictors of Mechanical Ventilation in Guillain-Barre Syndrome in North Indian Children. ⁶²	Tiwari I...Kumar R	33331796	2021
45	Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis. ⁶²	Cheong EN...Park HJ	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	Li W...Zheng D	33125541	2021
47	Neurological Manifestations of COVID-19 Associated Multi-system Inflammatory Syndrome in Children: A Systematic Review and Meta-analysis. ⁶²	Nepal G...Adhikari I	33934126	2021
48	Isolated bulbar palsy after SARS-CoV-2 infection. ⁶²	Todisco M...Cosentino G	33609467	2021
49	Basilar invagination: A mimicker of bulbar-onset amyotrophic lateral sclerosis. ⁶²	Tan JSH...Hiew FL	33553704	2021
50	Ultrasound, electromyography, and balloon guidance for injecting botulinum toxin for cricopharyngeal achalasia: A case report. ⁶²	Chen JM...Wang ZY	33725963	2021

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Genes for Progressive Bulbar Palsy

Genes related to Progressive Bulbar Palsy (0 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SLC52A3	Solute Carrier Family 52 Member 3	Protein Coding	8.28	DISEASES inferred ¹⁴
2	SLC52A2	Solute Carrier Family 52 Member 2	Protein Coding	7.56	DISEASES inferred ¹⁴
3	SLC52A1	Solute Carrier Family 52 Member 1	Protein Coding	7.2	DISEASES inferred ¹⁴
4	C9orf72	C9orf72-SMCR8 Complex Subunit	Protein Coding	6.44	DISEASES inferred ¹⁴
5	ETFDH	Electron Transfer Flavoprotein Dehydrogenase	Protein Coding	6.09	DISEASES inferred ¹⁴
6	SOD1	Superoxide Dismutase 1	Protein Coding	5.99	DISEASES inferred ¹⁴
7	VAPB	VAMP Associated Protein B And C	Protein Coding	5.87	DISEASES inferred ¹⁴
8	SLC25A32	Solute Carrier Family 25 Member 32	Protein Coding	5.82	DISEASES inferred ¹⁴
9	ETFB	Electron Transfer Flavoprotein Subunit Beta	Protein Coding	5.75	DISEASES inferred ¹⁴
10	FUS	FUS RNA Binding Protein	Protein Coding	5.66	DISEASES inferred ¹⁴
11	FLAD1	Flavin Adenine Dinucleotide Synthetase 1	Protein Coding	5.63	DISEASES inferred ¹⁴
12	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	5.36	DISEASES inferred ¹⁴
13	UBQLN2	Ubiquilin 2	Protein Coding	5.36	DISEASES inferred ¹⁴
14	ACAD9	Acyl-CoA Dehydrogenase Family Member 9	Protein Coding	5.29	DISEASES inferred ¹⁴
15	UNC13A	Unc-13 Homolog A	Protein Coding	5.28	DISEASES inferred ¹⁴
16	ETFA	Electron Transfer Flavoprotein Subunit Alpha	Protein Coding	5.24	DISEASES inferred ¹⁴
17	SETX	Senataxin	Protein Coding	5.2	DISEASES inferred ¹⁴
18	NEFH	Neurofilament Heavy Chain	Protein Coding	5.16	DISEASES inferred ¹⁴

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Variations for Progressive Bulbar Palsy

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Expression for Progressive Bulbar Palsy

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

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Pathways for Progressive Bulbar Palsy

Pathways related to Progressive Bulbar Palsy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.31	VAPB SLC52A3 SLC52A2 SLC52A1 SLC25A32 FLAD1
2	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways Biotin metabolism, including IMDs ⁷⁴ Biotin transport and metabolism ⁶⁶ Coenzyme A biosynthesis ⁶⁶ Defective BTD causes biotidinase deficiency ⁶⁶ Defective HLCS causes multiple carboxylase deficiency ⁶⁶ Defects in biotin (Btn) metabolism ⁶⁶ Metabolism of cofactors ⁶⁶ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ⁶¹ Molybdenum cofactor biosynthesis ⁶⁶ Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation ⁶⁶ thiamin salvage III ⁶¹ Ubiquinol biosynthesis ⁶⁶ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.32	SLC52A3 SLC52A2 SLC52A1 SLC25A32 FLAD1
3	Amyotrophic lateral sclerosis (ALS) ⁷⁴	10.69	SOD1 NEFH ALS2
4	Riboflavin and CoQ disorders ⁷⁴	10.14	SLC52A2 SLC52A1 FLAD1 ETFDH ETFA

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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

Sources for Progressive Bulbar Palsy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PRG007 MIFTS: 38	Progressive Bulbar Palsy Categories: Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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