Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:7481
Name:Multiple System Atrophy
Definition:A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Alternative IDs:
ParentIDs:MESH:D001480|MESH:D009069|MESH:D019636|MESH:D054969
TreeNumbers:C10.177.575.550 |C10.228.140.079.612 |C10.228.662.550 |C10.574.625
Synonyms:Atrophies, Multisystem |Atrophies, Multisystemic |Atrophy, Multiple System |Atrophy, Multisystem |Atrophy, Multisystemic |Multiple System Atrophies |Multiple System Atrophy Syndrome |Multisystem Atrophies |Multisystem Atrophy |Multisystemic Atrophies |Multisystemi
Slim Mappings:Nervous system disease
Reference: MedGen: D019578
MeSH: D019578
OMIM: 146500;

Genes: COQ2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0002459obsolete Dysautonomia
4 HP:0003581Adult onset
5 HP:0000970Anhidrosis
6 HP:0001251Ataxia
7 HP:0003487Babinski sign
8 HP:0002067Bradykinesia
9 HP:0100543Cognitive impairmentHP:0040283
10 HP:0001260Dysarthria
11 HP:0000640Gaze-evoked nystagmus
12 HP:0001347Hyperreflexia
13 HP:0000966Hypohidrosis
14 HP:0000802Impotence
15 HP:0001089Iris atrophy
16 HP:0002180Neurodegeneration
17 HP:0002542Olivopontocerebellar atrophy
18 HP:0001278Orthostatic hypotension
19 HP:0001300Parkinsonism
20 HP:0003812Phenotypic variability
21 HP:0002172Postural instability
22 HP:0003676Progressive
23 HP:0000508Ptosis
24 HP:0002063Rigidity
25 HP:0003202Skeletal muscle atrophy
26 HP:0003745Sporadic
27 HP:0001337Tremor
28 HP:0000020Urinary incontinence
29 HP:0000012Urinary urgency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_015697.7(COQ2):c.1160G>A (p.Arg387Gln)27235COQ2risk factor763562410RCV000054431; NMedGen:C0037019,OMIM:146500,SNOMED CT:1657600448418545884185458NM_015697.7:c.1160G>ANP_056512.5:p.Arg387GlnNC_000004.11:g.84185458C>TOMIM Allelic Variant:609825.0009C0037019 146500 Shy-Drager syndrome
NM_015697.7(COQ2):c.1159C>T (p.Arg387Ter)27235COQ2risk factor751185256RCV000054430; NMedGen:C0037019,OMIM:146500,SNOMED CT:1657600448418545984185459NM_015697.7:c.1159C>TNP_056512.5:p.Arg387TerNC_000004.11:g.84185459G>AOMIM Allelic Variant:609825.0008C0037019 146500 Shy-Drager syndrome
NM_015697.7(COQ2):c.1028T>C (p.Val343Ala)27235COQ2risk factor397514727RCV000054429; NMedGen:C0037019,OMIM:146500,SNOMED CT:1657600448418881284188812NM_015697.7:c.1028T>CNP_056512.5:p.Val343AlaNC_000004.11:g.84188812A>GOMIM Allelic Variant:609825.0007C0037019 146500 Shy-Drager syndrome
NM_015697.7(COQ2):c.382A>G (p.Met128Val)27235COQ2risk factor778094136RCV000054428; NMedGen:C0037019,OMIM:146500,SNOMED CT:1657600448420568684205686NM_015697.7:c.382A>GNP_056512.5:p.Met128ValNC_000004.11:g.84205686T>COMIM Allelic Variant:609825.0006C0037019 146500 Shy-Drager syndrome