ORTHYP2
MCID: ORT012
MIFTS: 32

Orthostatic Hypotension 2 (ORTHYP2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Orthostatic Hypotension 2

MalaCards integrated aliases for Orthostatic Hypotension 2:

Name: Orthostatic Hypotension 2 58 76 6
Orthyp2 58 76
Hypotension, Orthostatic 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
early death may occur
two unrelated families have been reported (last curated november 2018)


Classifications:



External Ids:

OMIM 58 618182
MeSH 45 D007024

Summaries for Orthostatic Hypotension 2

UniProtKB/Swiss-Prot : 76 Orthostatic hypotension 2: An autosomal recessive disorder characterized by severe orthostatic hypotension apparent from infancy or early childhood, low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. Some patients may also have renal dysfunction and reduced life expectancy. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope.

MalaCards based summary : Orthostatic Hypotension 2, also known as orthyp2, is related to pure autonomic failure and orthostatic intolerance. An important gene associated with Orthostatic Hypotension 2 is CYB561 (Cytochrome B561). The drugs Naltrexone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and heart.

OMIM : 58 Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency. For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (223360). (618182)

Related Diseases for Orthostatic Hypotension 2

Diseases in the Primary Orthostatic Hypotension family:

Orthostatic Hypotension 1 Orthostatic Hypotension 2

Diseases related to Orthostatic Hypotension 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 12.3
2 orthostatic intolerance 10.9
3 postural orthostatic tachycardia syndrome 10.4
4 intracranial hypotension 10.1
5 spontaneous intracranial hypotension 10.1
6 aging 9.9
7 dementia 9.9
8 chronic fatigue syndrome 9.9
9 rere-related disorders 9.9
10 syncope 9.9
11 headache 9.9

Graphical network of the top 20 diseases related to Orthostatic Hypotension 2:



Diseases related to Orthostatic Hypotension 2

Symptoms & Phenotypes for Orthostatic Hypotension 2

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
impaired renal function
decreased gfr

Neurologic Central Nervous System:
dizziness on standing due to low blood pressure
fainting on standing due to low blood pressure

Hematology:
anemia secondary to renal dysfunction

Cardiovascular Vascular:
orthostatic hypotension, severe
lack of compensatory tachycardia

Metabolic Features:
hypoglycemia, episodic (1 family)

Laboratory Abnormalities:
decreased or absent plasma levels of norepinephrine and epinephrine
normal dopamine beta-hydroxylase activity

Clinical features from OMIM:

618182

Drugs & Therapeutics for Orthostatic Hypotension 2

Drugs for Orthostatic Hypotension 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 364)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
2
Ethanol Approved Phase 4 64-17-5 702
3
Midodrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 133163-28-7, 42794-76-3 4195
4
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
5
Droxidopa Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 23651-95-8 443940
6
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
7
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 1 58-93-5 3639
8
Losartan Approved Phase 4,Phase 1 114798-26-4 3961
9
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
10
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1 59-92-7 6047
11
Mirabegron Approved Phase 4,Phase 2 223673-61-8 9865528
12
Irbesartan Approved, Investigational Phase 4,Phase 3 138402-11-6 3749
13
Acetaminophen Approved Phase 4 103-90-2 1983
14
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
15
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
16
Norepinephrine Approved Phase 4,Phase 1,Phase 2 51-41-2 439260
17
Moxonidine Approved, Investigational Phase 4 75438-57-2 4810
18
Prednisone Approved, Vet_approved Phase 4,Not Applicable 53-03-2 5865
19
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
20
Celecoxib Approved, Investigational Phase 4,Phase 1 169590-42-5 2662
21
Methylphenidate Approved, Investigational Phase 4,Phase 1 113-45-1 4158
22
Tamsulosin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 106133-20-4 129211
23
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
24
Morphine Approved, Investigational Phase 4 57-27-2 5288826
25
Silodosin Approved Phase 4,Phase 3 160970-54-7
26
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-70-2 271
27 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Narcotics Phase 4,Phase 3,Not Applicable
29 Narcotic Antagonists Phase 4
30 Angiotensin Receptor Antagonists Phase 4,Phase 3,Phase 1
31 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Sympathomimetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Vasoconstrictor Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
39 diuretics Phase 4,Phase 3,Phase 2,Phase 1
40 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1,Not Applicable
41 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Natriuretic Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
44 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Antiparkinson Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
47 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
50 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 226)
# Name Status NCT ID Phase Drugs
1 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
2 A Randomized Trial of Angiotensin Receptor bLocker,Fimasartan, in Aortic Stenosis (ALFA Trial) Unknown status NCT01589380 Phase 4 Fimasartan;Placebo
3 Tilt-Table Study of the Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01518946 Phase 4 Midodrine HCl;Placebo
4 A Study for Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
5 Study to Assess the Benefit of Midodrine in the Treatment of Patients With Neurogenic Orthostatic Hypotension Completed NCT00555880 Phase 4 Midodrine hydrochloride;Placebo
6 Clinical Efficacy of Midodrine in Symptomatic Orthostatic Hypotension Completed NCT01515865 Phase 4 Midodrine HCl;Placebo
7 Treatment and Prognosis of Neurogenic Orthostatic Hypotension : A Prospective Randomized Study Completed NCT02308124 Phase 4 Midodrine;Pyridostigmine Bromide;Midodrine + pyridostigmine
8 Comparision of Blood Pressure Variability Between Amlodipine and Losartan Completed NCT01964079 Phase 4 Amlodipine;Losartan
9 Duodenal Levodopa Infusion, Quality of Life and Autonomic Nervous System in Parkinson's Disease Completed NCT00914134 Phase 4 Levodopa infusion
10 Mirabegron in Parkinson Disease and Impaired Cognition Completed NCT02536976 Phase 4 mirabegron;Placebo
11 AMISH : Aprovel for Management of Isolated Systolic Hypertension Completed NCT00264212 Phase 4 irbesartan and irbesartan-hydrochlorothiazide
12 Adjuvant Analgesic Effects of Low Dose Tramadol/Acetaminophen Combination After Open Gynaecological Surgery Completed NCT00942565 Phase 4 tramadol/acetaminophen;acetaminophen
13 Study To Investigate The Hemodynamic Effects Of Single Dose Vardenafil In Subjects Receiving Maraviroc Completed NCT00853840 Phase 4 Maraviroc;Vardenafil;Maraviroc;Placebo
14 Stop Atherosclerosis in Native Diabetics Study Completed NCT00147251 Phase 4 FDA approved drugs to treat blood pressure and cholesterol
15 A Study Comparing the Efficacy and Safety of Duloxetine and Placebo for the Treatment of Depression in Elderly Patients Completed NCT00406848 Phase 4 duloxetine hydrochloride;placebo
16 Moxonidine for Prevention of Post-ablation AFib Recurrences Completed NCT01791699 Phase 4 Moxonidine;Placebo
17 Short-term Prednisone to Treat STA Study(SPTSS) Completed NCT01837433 Phase 4 Prednisone 1 week;Prednisone 6 weeks
18 Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
19 Dawn Simulation and Postural Hypotension Recruiting NCT02632318 Phase 4
20 Efficacy and Safety of Midodrine and Atomoxetine for Neurogenic OH Recruiting NCT03350659 Phase 4 Midodrine;Atomoxetine
21 Brain Perfusion & Oxygenation in Parkinson's Disease With NOH Recruiting NCT03229174 Phase 4 Droxidopa;Placebo
22 Dose Response to the Norepinephrine Precursor Droxidopa in Hypotensive Individuals With Spinal Cord Injury Recruiting NCT03602014 Phase 4 Northera
23 TQL-block for Laparoscopic Hemicolectomy Recruiting NCT03570541 Phase 4 Ropivacaine;Acetaminophen;Morphine;Saline
24 A Phase IV Study in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
25 The Effect of Methylphenidate on Non-motor Symptoms and Postural Control in Parkinson's Disease. Terminated NCT01244269 Phase 4 Methylphenidate;Methylphenidate;Placebo 10;Placebo 20
26 Silodosin Versus Tamsulosin for Treatment of Ureteral Stones Terminated NCT02369744 Phase 4 Silodosin;Tamsulosin
27 Efficacy of L-threo DOPS on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With MSA Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
28 Efficacy of Midodrine for the Prevention of Orthostatic Hypotension During Early Mobilization After Fast-track Hip Arthroplasty Completed NCT01707953 Phase 3 Midodrine;Placebo
29 Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00738062 Phase 3 Droxidopa;Placebo
30 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
31 A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa Completed NCT00782340 Phase 3 Placebo;Droxidopa
32 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) Completed NCT01132326 Phase 3 Droxidopa
33 Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) Completed NCT00633880 Phase 3 Placebo;Droxidopa
34 Evaluating the Effectiveness of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy Completed NCT01522235 Phase 2, Phase 3 Double blinded IVIg
35 Effect of Methylprednisolone on Orthostatic Intolerance and Heart Rate Variability in Hip-arthroplasty Patients Completed NCT02445898 Phase 2, Phase 3 Methylprednisolone;Isotonic Sodium Chloride
36 Exhaled Levels of Nitric Oxide Completed NCT00753948 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
37 Efficacy and Safety of Primovist in Chinese Patients Completed NCT00526188 Phase 3 Gadoxetic Acid Disodium (Primovist, BAY86-4873)
38 A Study of BMS-512148 (Dapagliflozin) in Patients With Type 2 Diabetes With Inadequately Controlled Hypertension on an ACEI or ARB and an Additional Antihypertensive Medication Completed NCT01195662 Phase 3 Dapagliflozin;Placebo matching Dapagliflozin
39 Deambulatory Epidural During the Labour Completed NCT02264834 Phase 3 Levobupivacaine 0.1% + Sufentanil 0.2µg/ml;Levobupivacaine 0.07% + Sufentanil 0.3µg/ml
40 Prevention of Low Blood Pressure in Persons With Tetraplegia Completed NCT00237770 Phase 2, Phase 3 N-Nitro L-arginine-methylester (L-NAME)
41 Long Term Study of Valsartan and Amlodipine in Patients With Essential Hypertension (Extension to Study CVAA489A1301) Completed NCT00446524 Phase 3 Valsartan + Amlodipine besilate
42 LEPU Renal Denervation System for Resistant Hypertension Completed NCT02536326 Phase 3
43 A Phase III Study of BMS-512148 (Dapagliflozin) in Patients With Type 2 Diabetes Who Are Not Well Controlled on Metformin Alone Completed NCT00528879 Phase 3 Dapagliflozin;Placebo;Metformin
44 Stop Vasodepressor Drugs in Reflex Syncope Completed NCT02137278 Phase 3 Vasoactive drug therapies
45 Safety and Tolerability of Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT01727713 Phase 3 Aripiprazole
46 Xenazine in Late Dyskinetic Syndrome With Neuroleptics Completed NCT01543321 Phase 3 Tetrabenazine;Placebo
47 Caffeine as a Therapy for Parkinson's Disease Completed NCT01738178 Phase 3 Caffeine;Placebo
48 Clinical Effect Durability of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03829657 Phase 3 TD-9855;Placebo
49 Clinical Effect of TD-9855 for Treating snOH in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 TD-9855;Placebo
50 Treatment of Post-SCI Hypotension Recruiting NCT02919917 Phase 2, Phase 3 Midodrine Hydrochloride;Midodrine Hydrochloride

Search NIH Clinical Center for Orthostatic Hypotension 2

Cochrane evidence based reviews: hypotension, orthostatic

Genetic Tests for Orthostatic Hypotension 2

Anatomical Context for Orthostatic Hypotension 2

MalaCards organs/tissues related to Orthostatic Hypotension 2:

42
Spinal Cord, Brain, Heart, Kidney, Liver, Eye, Prostate

Publications for Orthostatic Hypotension 2

Articles related to Orthostatic Hypotension 2:

# Title Authors Year
1
Surgical "Fat Patch" Improves Secondary Intracranial Hypotension Orthostatic Headache Associated with Lumbosacral Dural Ectasia. ( 28866058 )
2017
2
Orthostatic hypotension, orthostatic intolerance and frailty: The Irish Longitudinal Study on Aging-TILDA. ( 25687529 )
2015
3
The roles of orthostatic hypotension, orthostatic tachycardia, and subnormal erythrocyte volume in the pathogenesis of the chronic fatigue syndrome. ( 10910366 )
2000

Variations for Orthostatic Hypotension 2

ClinVar genetic disease variations for Orthostatic Hypotension 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYB561 NM_001915.3(CYB561): c.262G> A (p.Gly88Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 61513454: 61513454
2 CYB561 NM_001915.3(CYB561): c.262G> A (p.Gly88Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 63436093: 63436093
3 CYB561 NM_001915.3(CYB561): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 61514778: 61514778
4 CYB561 NM_001915.3(CYB561): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 63437417: 63437417

Expression for Orthostatic Hypotension 2

Search GEO for disease gene expression data for Orthostatic Hypotension 2.

Pathways for Orthostatic Hypotension 2

GO Terms for Orthostatic Hypotension 2

Sources for Orthostatic Hypotension 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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