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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Neurologic Manifestations (D009461)
Parent Node: Primary Dysautonomias (D054969)
..Starting node ..Orthostatic Intolerance (D054971)
Child Nodes:
........Hypotension, Orthostatic (D007024) 2
........Irritable heart (C531763)
........Post-Exercise Hypotension (D057774)
........Postural Orthostatic Tachycardia Syndrome (D054972)
........Syncope, Vasovagal (D019462) 1
Sister Nodes:
..Acute cholinergic dysautonomia (C535672)
..Dysautonomia like disorder (C535728)
..Dysautonomia, Familial (D004402) 1
..Multiple System Atrophy (D019578) 21
..Orthostatic Intolerance (D054971) 8
..Pure Autonomic Failure (D054970)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8356

Name:

Orthostatic Intolerance

Definition:

Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)

Alternative IDs:

OMIM:604715

ParentIDs:

MESH:D009461|MESH:D054969

TreeNumbers:

C10.177.575.600 |C23.888.592.610

Synonyms:

Intolerance, Orthostatic |IRRITABLE HEART |MITRAL VALVE PROLAPSE SYNDROME |NEUROCIRCULATORY ASTHENIA |SOLDIERS HEART

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: D054971
MeSH: D054971
OMIM: 604715;

Genes: SLC6A2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0012173	Orthostatic tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001172504.1(SLC6A2):c.1369G>C (p.Ala457Pro)	6530	SLC6A2	Pathogenic	121918126	RCV000015043;	N	MedGen:C0026267,OMIM:604715	16	55731917	55731917	NM_001172504.1:c.1369G>C	NP_001165975.1:p.Ala457Pro	NC_000016.9:g.55731917G>C	OMIM Allelic Variant:163970.0001	C0026267 604715 Orthostatic intolerance