Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHypotension (D007022)
Parent Node:
expandOrthostatic Intolerance (D054971)
..Starting node
..expandHypotension, Orthostatic (D007024)

       Child Nodes:
........expandIdiopathic orthostatic hypotension (C544351)
........expandOrthostatic Hypotensive Disorder, Streeten Type (C564174)



 Sister Nodes: 
..expandHypotension, Orthostatic (D007024) Child2
..expandIrritable heart (C531763)
..expandPost-Exercise Hypotension (D057774)
..expandPostural Orthostatic Tachycardia Syndrome (D054972)
..expandSyncope, Vasovagal (D019462) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5630
Name:Hypotension, Orthostatic
Definition:A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE.
Alternative IDs:
ParentIDs:MESH:D007022|MESH:D054971
TreeNumbers:C10.177.575.600.450 |C14.907.514.482
Synonyms:Hypotension, Postural |Orthostatic Hypotension |Postural Hypotension
Slim Mappings:Cardiovascular disease|Nervous system disease
Reference: MedGen: D007024
MeSH: D007024
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