Human Phenotype Ontology

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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

Grandparent Node:
Abnormal systemic blood pressure (HP:0030972)

Parent Node:
Abnormal autonomic nervous system physiology (HP:0012332)

Parent Node:
Hypotension (HP:0002615)

..Starting node
..Orthostatic hypotension (HP:0001278)

Term ID:

1278

Name:

Orthostatic hypotension

Synonym:

Decrease in blood pressure upon standing up; Postural hypotension

Definition:

A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.

Comments:

Reference:

HP:0001278

Genes and Diseases:

Child Nodes:

........

Orthostatic hypotension due to autonomic dysfunction (HP:0004926)

........

Postural hypotension with compensatory tachycardia (HP:0005307)

Sister Nodes:

Low-to-normal blood pressure (HP:0002632)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001278	HP:0001278	Orthostatic hypotension	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0001278	HP:0001278	Orthostatic hypotension	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0001278	HP:0001278	Orthostatic hypotension	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0001278	HP:0001278	Orthostatic hypotension	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0001278	HP:0001278	Orthostatic hypotension	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0001278	HP:0001278	Orthostatic hypotension	0	CHRNA3 CL E G H	1136	1957	OMIM:191800	URINARY BLADDER, ATONY OF		4
HP:0001278	HP:0001278	Orthostatic hypotension	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	373
HP:0001278	HP:0001278	Orthostatic hypotension	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	660
HP:0001278	HP:0001278	Orthostatic hypotension	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare	325
HP:0001278	HP:0001278	Orthostatic hypotension	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001278	HP:0001278	Orthostatic hypotension	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0001278	HP:0001278	Orthostatic hypotension	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0001278	HP:0001278	Orthostatic hypotension	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0001278	HP:0001278	Orthostatic hypotension	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0001278	HP:0001278	Orthostatic hypotension	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.	73
HP:0001278	HP:0001278	Orthostatic hypotension	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040281 - Very frequent	80
HP:0001278	HP:0001278	Orthostatic hypotension	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0001278	HP:0001278	Orthostatic hypotension	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001278	HP:0001278	Orthostatic hypotension	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001278	HP:0001278	Orthostatic hypotension	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent	133
HP:0001278	HP:0001278	Orthostatic hypotension	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0001278	HP:0001278	Orthostatic hypotension	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001278	HP:0001278	Orthostatic hypotension	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form	HP:0040283 - Occasional	86
HP:0001278	HP:0001278	Orthostatic hypotension	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0001278	HP:0001278	Orthostatic hypotension	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	HP:0040283 - Occasional	24
HP:0001278	HP:0001278	Orthostatic hypotension	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0001278	HP:0001278	Orthostatic hypotension	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0001278	HP:0001278	Orthostatic hypotension	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001278	HP:0001278	Orthostatic hypotension	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0001278	HP:0001278	Orthostatic hypotension	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0001278	HP:0001278	Orthostatic hypotension	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0001278	HP:0001278	Orthostatic hypotension	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0001278	HP:0001278	Orthostatic hypotension	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0001278	HP:0001278	Orthostatic hypotension	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0001278	HP:0001278	Orthostatic hypotension	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0001278	HP:0001278	Orthostatic hypotension	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001278	HP:0001278	Orthostatic hypotension	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0001278	HP:0001278	Orthostatic hypotension	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0001278	HP:0001278	Orthostatic hypotension	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001278	HP:0001278	Orthostatic hypotension	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0001278	HP:0001278	Orthostatic hypotension	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency		40
HP:0001278	HP:0001278	Orthostatic hypotension	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0001278	HP:0001278	Orthostatic hypotension	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0001278	HP:0001278	Orthostatic hypotension	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0001278	HP:0001278	Orthostatic hypotension	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001278	HP:0001278	Orthostatic hypotension	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0001278	HP:0001278	Orthostatic hypotension	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0001278	HP:0001278	Orthostatic hypotension	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0001278	HP:0001278	Orthostatic hypotension	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	253
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional	53
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0001278	HP:0005307	Postural hypotension with compensatory tachycardia	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare	81
HP:0001278	HP:0005307	Postural hypotension with compensatory tachycardia	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent	40
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0001278	HP:0004926	Orthostatic hypotension due to autonomic dysfunction	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37

Genes (41) :AAAS ARSA ATP7A CAV1 CHCHD2 CHRNA3 COL1A1 COL5A1 COL5A2 COQ2 CYB561 CYP11B2 DBH DNAJC13 EIF4G1 ELP1 GBA1 GBE1 GIGYF2 GMPPA GSN HEXB IL12A IL12RB1 IRF5 LEP LEPR LMNB1 LRRK2 MMEL1 NTRK1 POU2AF1 PSAP SIM1 SNCA SPG11 SPIB TNFSF15 TNPO3 TTR VPS35

Diseases (33) :OMIM:231550 ORPHA:309271 OMIM:304150 OMIM:606721 OMIM:616710 OMIM:191800 ORPHA:287 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:618182 ORPHA:556030 OMIM:610600 ORPHA:230 OMIM:223360 ORPHA:411602 ORPHA:1764 OMIM:223900 OMIM:263570 OMIM:615510 ORPHA:85448 OMIM:268800 ORPHA:186 ORPHA:66628 ORPHA:179494 ORPHA:99027 OMIM:169500 ORPHA:642 OMIM:256800 ORPHA:369873 OMIM:605543 ORPHA:2822 OMIM:105210

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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