MCID: PRG007
MIFTS: 34

Progressive Bulbar Palsy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Bulbar Palsy

MalaCards integrated aliases for Progressive Bulbar Palsy:

Name: Progressive Bulbar Palsy 12 52 15 17
Bulbar Palsy, Progressive 43 71
Progressive Bulbar Atrophy 52

Classifications:



External Ids:

Disease Ontology 12 DOID:681
ICD9CM 34 335.22
MeSH 43 D010244
NCIt 49 C85026
SNOMED-CT 67 54304004
ICD10 32 G12.22
UMLS 71 C0030442

Summaries for Progressive Bulbar Palsy

NIH Rare Diseases : 52 Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.

MalaCards based summary : Progressive Bulbar Palsy, also known as bulbar palsy, progressive, is related to riboflavin transporter deficiency neuronopathy and brown-vialetto-van laere syndrome. An important gene associated with Progressive Bulbar Palsy is SLC52A3 (Solute Carrier Family 52 Member 3). The drugs Ursodeoxycholic acid and Tauroursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and cortex, and related phenotype is muscle.

Wikipedia : 74 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 72)
# Related Disease Score Top Affiliating Genes
1 riboflavin transporter deficiency neuronopathy 33.3 SLC52A3 SLC52A2
2 brown-vialetto-van laere syndrome 33.3 SLC52A3 SLC52A2 C9orf72
3 brown-vialetto-van laere syndrome 1 33.0 SLC52A3 SLC52A2
4 motor neuron disease 30.1 VAPB TARDBP SOD1 SLC52A3 SLC52A2 FUS
5 lateral sclerosis 28.2 VAPB TARDBP SOD1 FUS C9orf72 ALS2
6 amyotrophic lateral sclerosis 1 27.2 VAPB TARDBP TAF15 SOD1 KIFAP3 FUS
7 fazio-londe disease 12.4
8 madras motor neuron disease 10.4 SLC52A3 SLC52A2
9 chronic apical periodontitis 10.3 SLC52A3 SLC52A2
10 cranial nerve palsy 10.2 SLC52A3 SLC52A2
11 dysphagia 10.2
12 associative agnosia 10.2 TARDBP C9orf72
13 charcot-marie-tooth disease, axonal, type 2cc 10.1 SOD1 C9orf72
14 semantic dementia 10.1 TARDBP C9orf72
15 agraphia 10.1 TARDBP C9orf72
16 dysgraphia 10.1 TARDBP C9orf72
17 prosopagnosia 10.1 TARDBP C9orf72
18 writing disorder 10.1 TARDBP C9orf72
19 myasthenia gravis 9.9
20 branchiootic syndrome 1 9.9
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
22 respiratory failure 9.9
23 syphilis 9.9
24 neuromyelitis optica 9.9
25 neuromyelitis optica spectrum disorder 9.9
26 spasticity 9.9
27 extraosseous chondrosarcoma 9.9 TAF15 FUS
28 nominal aphasia 9.9 TARDBP FUS C9orf72
29 aphasia 9.9 TARDBP FUS C9orf72
30 primary lateral sclerosis, adult, 1 9.9 SOD1 ALS2
31 perry syndrome 9.9 TARDBP FUS C9orf72
32 amyotrophic lateral sclerosis 20 9.9 C9orf72 ALS2
33 movement disease 9.8 TARDBP FUS C9orf72
34 mutism 9.8 TARDBP C9orf72
35 amyotrophic lateral sclerosis 17 9.8 VAPB ALS2
36 amyotrophic lateral sclerosis type 15 9.7 VAPB C9orf72 ALS2
37 spastic paraplegia 64, autosomal recessive 9.7 FUS ALS2
38 speech and communication disorders 9.7 TARDBP FUS C9orf72
39 frontotemporal dementia 9.7 TARDBP SOD1 FUS C9orf72
40 dementia 9.7 TARDBP SOD1 FUS C9orf72
41 amyotrophic lateral sclerosis type 5 9.7 VAPB SOD1 ALS2
42 muscular atrophy 9.7 VAPB TARDBP FUS C9orf72
43 spinal and bulbar muscular atrophy, x-linked 1 9.7 TARDBP SOD1 FUS C9orf72
44 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.7 TARDBP SOD1 FUS C9orf72
45 supranuclear palsy, progressive, 1 9.7 TARDBP SOD1 FUS C9orf72
46 dementia, lewy body 9.7 TARDBP SOD1 FUS C9orf72
47 pick disease of brain 9.7 TARDBP SOD1 FUS C9orf72
48 pontocerebellar hypoplasia, type 2e 9.6 SOD1 ALS2
49 liposarcoma 9.6 TARDBP TAF15 FUS
50 autosomal dominant cerebellar ataxia 9.6 TARDBP SOD1 FUS C9orf72

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

MGI Mouse Phenotypes related to Progressive Bulbar Palsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ALS2 KIFAP3 LMNB1 SOD1 TARDBP VAPB

Drugs & Therapeutics for Progressive Bulbar Palsy

Drugs for Progressive Bulbar Palsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
2
Tauroursodeoxycholic acid Experimental, Investigational Phase 2 14605-22-2 12443252
3
Taurochenodeoxycholic acid Experimental Phase 2 516-35-8 387316
4 Gastrointestinal Agents Phase 2
5 Neuroprotective Agents Phase 2
6 Cholagogues and Choleretics Phase 2
7 Anti-Infective Agents Phase 2
8 Antiviral Agents Phase 2
9 Antioxidants Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind Multicenter Pilot Study vs. Placebo for the Evaluation of Efficacy and Tolerability of Tauroursodeoxycholic Acid Administered by Oral Route as Add on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis Completed NCT00877604 Phase 2 tauroursodeoxycholic acid (TUDCA);Placebo
2 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting 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

MalaCards organs/tissues related to Progressive Bulbar Palsy:

40
Brain, Tongue, Cortex, Spinal Cord, Bone, Thyroid, Testes

Publications for Progressive Bulbar Palsy

Articles related to Progressive Bulbar Palsy:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology. 61
30846210 2019
2
[A case of neuromyelitis optica spectrum disorders, with slowly progressive bulbar palsy, mimicking a motor neuron disease]. 61
30814445 2019
3
The same cortico-efferent tract involvement in progressive bulbar palsy and in 'classical' ALS: A tract of interest-based MRI study. 61
31421506 2019
4
Neuro-Behçet's masquerading as progressive bulbar palsy: a case report and literature review. 61
30937175 2019
5
Fazio-Londe syndrome in siblings from India with different phenotypes. 61
29501408 2018
6
Motor neuron disease mortality rates in New Zealand 1992-2013. 61
29382218 2018
7
[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review]. 61
30154300 2018
8
What is in the Literature? 61
29189555 2017
9
Clinical Features of Isolated Bulbar Palsy of Amyotrophic Lateral Sclerosis in Chinese Population. 61
28748847 2017
10
Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease. 61
28264096 2017
11
Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden. 61
28140676 2017
12
Injury of the arcuate fasciculus in a patient with progressive bulbar palsy. 61
28197203 2016
13
Corticosteroid-resistant bulbar neurosarcoidosis responsive to intravenous immunoglobulin. 61
25935926 2015
14
Accelerated neuronal differentiation toward motor neuron lineage from human embryonic stem cell line (H9). 61
25036750 2015
15
The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics. 61
26227992 2015
16
GSTP1 Polymorphisms and their Association with Glutathione Transferase and Peroxidase Activities in Patients with Motor Neuron Disease. 61
26295823 2015
17
Fazio Londe syndrome: A treatable disorder. 61
25745320 2015
18
Recent advances in bulbar syndromes: genetic causes and disease mechanisms. 61
25159929 2014
19
Epidemiological characteristics of motor neuron disease in Chinese patients. 61
24689740 2014
20
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. 61
24206674 2014
21
[A case of myasthenia gravis presenting solely with bulbar palsy unassociated with easy fatigability]. 61
23524604 2013
22
Lockhart Clarke's contribution to the description of amyotrophic lateral sclerosis. 61
20576696 2010
23
The clinical course of progressive bulbar palsy. 61
20132084 2010
24
[Phenotypes in ALS--clinical features and pathology]. 61
17969341 2007
25
[A study of bulbar, upper extremity, and lower extremity motor function preservation at the time that respiratory symptoms appear in ALS]. 61
17511283 2007
26
Comparison of the growth hormone, IGF-1 and insulin in cerebrospinal fluid and serum between patients with motor neuron disease and healthy controls. 61
17116217 2006
27
[Differential diagnosis and atypical subsets of amyotrophic lateral sclerosis]. 61
17128093 2006
28
[Clinical characteristics of amyotrophic lateral sclerosis subsets]. 61
17128087 2006
29
Masseter spasticity successfully treated with neuroablations of the bilateral mandibular nerves for a patient with progressive bulbar palsy. 61
16116026 2005
30
Clinical and epidemiological features of motor neuron disease in south-western Greece. 61
15644070 2005
31
[Sleep-related breathing disturbances in motor neuron disease]. 61
16281372 2005
32
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 61
15372378 2004
33
Subacute bulbar palsy as the initial sign of follicular thyroid cancer. 61
15575255 2004
34
Infantile progressive bulbar palsy with deafness. 61
12427524 2002
35
[Progressive bulbar palsy (Fazio-Londe disease): case report]. 61
12364956 2002
36
Progressive bulbar palsy: a case report diagnosed by lingual symptoms. 61
12110044 2002
37
Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. 61
11310628 2001
38
Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. 61
11949733 2001
39
Rapidly progressive polymyositis with elevated antiacetylcholine receptor antibody activity. 61
11197802 2000
40
Immunocytochemical and ultrastructural study of the motor cortex in patients with lower motor neuron disease. 61
10686412 2000
41
Histiocytic lesion mimicking intrinsic brainstem neoplasm. Case report. 61
10584853 1999
42
Motor neuron disease: usefulness of transcranial magnetic stimulation in improving the diagnosis. 61
10400213 1999
43
Diagnostic challenges in ALS. 61
10560634 1999
44
Subcortical frontal lesions on MRI in patients with motor neurone disease. 61
9638670 1998
45
[A 49-year-old man with progressive bulbar palsy and respiratory failure]. 61
9493205 1998
46
Frequency of motor neuron diseases in a Mexico City referral center. 61
9528303 1997
47
Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. 61
9365366 1997
48
Motor neurone disease in the tropics: findings from Sudan. 61
9145578 1997
49
Pharmacologic treatment of emotional lability. 61
8937793 1996
50
Delayed radiation-induced bulbar palsy. 61
8649557 1996

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 nuclear membrane GO:0031965 8.8 SLC52A3 LMNB1 C9orf72

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

# Name GO ID Score Top Affiliating Genes
1 mRNA stabilization GO:0048255 9.26 TAF15 FUS
2 riboflavin metabolic process GO:0006771 9.16 SLC52A3 SLC52A2
3 riboflavin transport GO:0032218 8.96 SLC52A3 SLC52A2
4 gene expression GO:0010467 8.8 TARDBP TAF15 FUS

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

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.26 C9orf72 ALS2
2 sequence-specific double-stranded DNA binding GO:1990837 9.16 TARDBP LMNB1
3 mRNA 3'-UTR binding GO:0003730 9.13 TARDBP TAF15 FUS
4 riboflavin transmembrane transporter activity GO:0032217 8.62 SLC52A3 SLC52A2

Sources for Progressive Bulbar Palsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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