Details of Disease

General Information of Disease (ID: DISSHDA5)

Disease Name	Primary progressive multiple sclerosis
Synonyms	primary-progressive MS; PPMS
Disease Class	8A40: Multiple sclerosis
Definition	A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.
Disease Hierarchy	DIS9JZ35: Chronic progressive multiple sclerosis DISSHDA5: Primary progressive multiple sclerosis
ICD Code	ICD-11 ICD-11: 8A40.1 ICD-9 ICD-9: 340 Expand ICD-11 '8A40.1 Expand ICD-9 340
Disease Identifiers	MONDO ID MONDO_0000451 MESH ID D020528 UMLS CUI C0751964 MedGen ID 155968 SNOMED CT ID 428700003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Fingolimod	DM5JVAN	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Laquinimod	DM3IWS8	Phase 3	Small molecular drug	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASIC1	TTRJYB6	Strong	Biomarker	[3]
CSF1R	TT7MRDV	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM6	DEUWCVD	Strong	Altered Expression	[5]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OMG	OTXA5C6L	moderate	Genetic Variation	[6]
PLP1	OT8CM9CX	Definitive	Genetic Variation	[7]
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References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2407).
2	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
3	Targeting ASIC1 in primary progressive multiple sclerosis: evidence of neuroprotection with amiloride.Brain. 2013 Jan;136(Pt 1):106-15. doi: 10.1093/brain/aws325.
4	Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.Eur J Neurol. 2015 Feb;22(2):328-333. doi: 10.1111/ene.12572. Epub 2014 Oct 13.
5	Transglutaminase-6 is an autoantigen in progressive multiple sclerosis and is upregulated in reactive astrocytes.Mult Scler. 2017 Nov;23(13):1707-1715. doi: 10.1177/1352458516684022. Epub 2016 Dec 22.
6	Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis.J Neurol Neurosurg Psychiatry. 2000 May;68(5):643-6. doi: 10.1136/jnnp.68.5.643.
7	Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.Ann Neurol. 2005 Sep;58(3):470-3. doi: 10.1002/ana.20601.