MCID: MLT076
MIFTS: 9

Multiple System Atrophy with Orthostatic Hypotension

Categories: Neuronal diseases

Aliases & Classifications for Multiple System Atrophy with Orthostatic Hypotension

MalaCards integrated aliases for Multiple System Atrophy with Orthostatic Hypotension:

Name: Multiple System Atrophy with Orthostatic Hypotension 53
Multiple System Atrophy with Orthostatic Hypotension 6

Classifications:



Summaries for Multiple System Atrophy with Orthostatic Hypotension

NINDS : 53 Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s.  Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements.  The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.

MalaCards based summary : Multiple System Atrophy with Orthostatic Hypotension, also known as multiple system atrophy with orthostatic hypotension, is related to pure autonomic failure. An important gene associated with Multiple System Atrophy with Orthostatic Hypotension is COQ2 (Coenzyme Q2, Polyprenyltransferase). Affiliated tissues include spinal cord.

Related Diseases for Multiple System Atrophy with Orthostatic Hypotension

Diseases related to Multiple System Atrophy with Orthostatic Hypotension via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 11.4

Symptoms & Phenotypes for Multiple System Atrophy with Orthostatic Hypotension

Drugs & Therapeutics for Multiple System Atrophy with Orthostatic Hypotension

Search Clinical Trials , NIH Clinical Center for Multiple System Atrophy with Orthostatic Hypotension

Genetic Tests for Multiple System Atrophy with Orthostatic Hypotension

Anatomical Context for Multiple System Atrophy with Orthostatic Hypotension

MalaCards organs/tissues related to Multiple System Atrophy with Orthostatic Hypotension:

40
Spinal Cord

Publications for Multiple System Atrophy with Orthostatic Hypotension

Articles related to Multiple System Atrophy with Orthostatic Hypotension:

# Title Authors PMID Year
1
Mutant COQ2 in multiple-system atrophy. 6
24988567 2014
2
Mutant COQ2 in multiple-system atrophy. 6
24988568 2014
3
Mutant COQ2 in multiple-system atrophy. 6
24988569 2014
4
Multiplex families with multiple system atrophy. 6
17420317 2007
5
Functional neuroimaging of sympathetic innervation of the heart. 61
15240374 2004

Variations for Multiple System Atrophy with Orthostatic Hypotension

ClinVar genetic disease variations for Multiple System Atrophy with Orthostatic Hypotension:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2):c.1028T>C (p.Val343Ala) SNV risk factor 60537 rs397514727 4:84188812-84188812 4:83267659-83267659
2 COQ2 NM_015697.8(COQ2):c.382A>G (p.Met128Val) SNV risk factor 60536 rs778094136 4:84205686-84205686 4:83284533-83284533
3 COQ2 NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter) SNV risk factor 60538 rs751185256 4:84185459-84185459 4:83264306-83264306
4 COQ2 NM_015697.8(COQ2):c.1160G>A (p.Arg387Gln) SNV risk factor 60539 rs763562410 4:84185458-84185458 4:83264305-83264305
5 MAPT NM_001123066.3(MAPT):c.664C>A (p.Arg222Ser) SNV Uncertain significance 638372 rs150983093 17:44060834-44060834 17:45983468-45983468

Expression for Multiple System Atrophy with Orthostatic Hypotension

Search GEO for disease gene expression data for Multiple System Atrophy with Orthostatic Hypotension.

Pathways for Multiple System Atrophy with Orthostatic Hypotension

GO Terms for Multiple System Atrophy with Orthostatic Hypotension

Sources for Multiple System Atrophy with Orthostatic Hypotension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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