MCID: PRG007
MIFTS: 30

Progressive Bulbar Palsy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Progressive Bulbar Palsy

MalaCards integrated aliases for Progressive Bulbar Palsy:

Name: Progressive Bulbar Palsy 12 53 15
Bulbar Palsy, Progressive 44 73
Progressive Bulbar Atrophy 53

Classifications:



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Disease Ontology 12 DOID:681
ICD10 33 G12.22
ICD9CM 35 335.22
MeSH 44 D010244
NCIt 50 C85026
SNOMED-CT 68 230547002 54304004
UMLS 73 C0030442

Summaries for Progressive Bulbar Palsy

NIH Rare Diseases : 53 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 fazio-londe disease and motor neuron disease. An important gene associated with Progressive Bulbar Palsy is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include brain, tongue and spinal cord, and related phenotype is Increased cell death HMECs cells.

Wikipedia : 76 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

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



Diseases related to Progressive Bulbar Palsy

Symptoms & Phenotypes for Progressive Bulbar Palsy

GenomeRNAi Phenotypes related to Progressive Bulbar Palsy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.92 GSTP1 MUSK TF TNFRSF10A

Drugs & Therapeutics for Progressive Bulbar Palsy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
2 Amyotrophic Lateral Sclerosis (ALS) Tissue Donation Program Completed NCT00716131
3 Transplantation of Autologous Peripheral Blood Mononuclear Cells for Amyotrophic Lateral Sclerosis Completed NCT03085706 Not Applicable

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:

41
Brain, Tongue, Spinal Cord, Cortex, Bone

Publications for Progressive Bulbar Palsy

Articles related to Progressive Bulbar Palsy:

(show all 16)
# Title Authors Year
1
Injury of the arcuate fasciculus in a patient with progressive bulbar palsy. ( 28197203 )
2016
2
The clinical course of progressive bulbar palsy. ( 20132084 )
2010
3
Masseter spasticity successfully treated with neuroablations of the bilateral mandibular nerves for a patient with progressive bulbar palsy. ( 16116026 )
2005
4
Progressive bulbar palsy: a case report diagnosed by lingual symptoms. ( 12110044 )
2002
5
Infantile progressive bulbar palsy with deafness. ( 12427524 )
2002
6
Accidental barium aspiration in a case of progressive bulbar palsy. ( 8772987 )
1995
7
The first description of idiopathic progressive bulbar palsy. ( 8270924 )
1993
8
Progressive bulbar palsy: a case report of a type of motor neuron disease presenting with oral symptoms. ( 2304745 )
1990
9
Prevention of self-inflicted trauma: dental intervention to prevent chronic lip chewing by a patient with a diagnosis of progressive bulbar palsy. ( 2978766 )
1988
10
Progressive bulbar palsy and gammopathy. ( 3658181 )
1987
11
Juvenile progressive bulbar palsy. Clinical and electrodiagnostic findings. ( 6847440 )
1983
12
Progressive bulbar palsy of childhood in siblings. ( 7425580 )
1980
13
Juvenile type of slowly progressive bulbar palsy: report of a case. ( 5105511 )
1971
14
Progressive bulbar palsy. ( 5349654 )
1969
15
Injection of silicone lateral to a vocal cord in a patient with progressive bulbar palsy. ( 6070024 )
1967
16
Progressive bulbar palsy due to syphilis. ( 13030990 )
1953

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 integral component of plasma membrane GO:0005887 9.02 HLA-A MUSK SLC52A2 SLC52A3 TNFRSF10A

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

# Name GO ID Score Top Affiliating Genes
1 riboflavin metabolic process GO:0006771 8.96 SLC52A2 SLC52A3
2 riboflavin transport GO:0032218 8.62 SLC52A2 SLC52A3

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

# Name GO ID Score Top Affiliating Genes
1 riboflavin transmembrane transporter activity GO:0032217 8.62 SLC52A2 SLC52A3

Sources for Progressive Bulbar Palsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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