Details of Disease

General Information of Disease (ID: DIS4SNUB)

• Disease Name: Progressive bulbar palsy
• Synonyms: progressive bulbar atrophy; bulbar palsy, progressive, of childhood; Fazio-Londe disease
• Definition: 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.
• Disease Hierarchy:
  DISQDCAW: Riboflavin transporter deficiency
  DISH9EST: Palsy
  DISCGSED: Cranial nerve palsy
  DIS6ZC3X: Brain disease
  DIS4SNUB: Progressive bulbar palsy
• Disease Identifiers:
  MONDO ID: MONDO_0008890
  UMLS CUI: C0030442
  MedGen ID: 18290
  SNOMED CT ID: 54304004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC52A3	DTBVQIO	Moderate	Autosomal recessive	[1]
SLC52A3	DTBVQIO	Strong	Biomarker	[2]
SLC35A1	DTVZIRG	Definitive	Biomarker	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IGFALS	OTTWCZYM	moderate	Genetic Variation	[4]
SLC52A3	OT1FHFMK	Moderate	Autosomal recessive	[1]
GAL3ST1	OTSFFZRD	Definitive	Biomarker	[3]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.
• [3] The same cortico-efferent tract involvement in progressive bulbar palsy and in 'classical' ALS: A tract of interest-based MRI study.Neuroimage Clin. 2019;24:101979. doi: 10.1016/j.nicl.2019.101979. Epub 2019 Aug 9.
• [4] Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):302-304. doi: 10.1080/21678421.2017.1280509. Epub 2017 Jan 31.