ORTHYP2
MCID: ORT012
MIFTS: 20

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 57 72 29 6
Orthyp2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
orthostatic hypotension 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618182
OMIM Phenotypic Series 57 PS223360
MeSH 44 D007024

Summaries for Orthostatic Hypotension 2

UniProtKB/Swiss-Prot : 72 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, is also known as orthyp2. An important gene associated with Orthostatic Hypotension 2 is CYB561 (Cytochrome B561). Related phenotypes are hypoglycemia and orthostatic hypotension

OMIM® : 57 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) (Updated 05-Apr-2021)

Related Diseases for Orthostatic Hypotension 2

Diseases in the Primary Orthostatic Hypotension family:

Orthostatic Hypotension 1 Orthostatic Hypotension 2

Symptoms & Phenotypes for Orthostatic Hypotension 2

Human phenotypes related to Orthostatic Hypotension 2:

31
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 31 HP:0001943
2 orthostatic hypotension 31 HP:0001278
3 decreased glomerular filtration rate 31 HP:0012213

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orthostatic Hypotension 2

Search Clinical Trials , NIH Clinical Center for Orthostatic Hypotension 2

Genetic Tests for Orthostatic Hypotension 2

Genetic tests related to Orthostatic Hypotension 2:

# Genetic test Affiliating Genes
1 Orthostatic Hypotension 2 29 CYB561

Anatomical Context for Orthostatic Hypotension 2

Publications for Orthostatic Hypotension 2

Articles related to Orthostatic Hypotension 2:

# Title Authors PMID Year
1
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. 57
29343526 2018
2
Quetiapine for Bipolar Depressive Episode in Obsessive-Compulsive Disorder Patients Maintained on Selective Serotonin Reuptake Inhibitor Treatment. 61
33811191 2021
3
Fewer subsequent relapses and lower levels of IL-17 in Takayasu arteritis developed after the age of 40 years. 61
27964745 2016
4
Risk assessment of patient falls while taking medications ordered in a teaching hospital. 61
26222175 2015
5
Switch-over from tolcapone to entacapone in severe Parkinson's disease patients. 61
11455177 2001
6
Cardiac and plasma catecholamine responses to exercise in patients with type 2 diabetes: prognostic implications for cardiac-cerebrovascular events. 61
10910370 2000
7
Prospective evaluation of unexplained syncope, dizziness, and falls among community-dwelling elderly adults. 61
9823747 1998
8
Circulatory response evoked by a 3 s bout of dynamic leg exercise in humans. 61
8842017 1996
9
Phase I clinical trial using escalating single-dose infusion of chimeric anti-CD20 monoclonal antibody (IDEC-C2B8) in patients with recurrent B-cell lymphoma. 61
7522629 1994
10
Adrenergic supersensitivity in parkinsonians with orthostatic hypotension. 61
1964123 1990

Variations for Orthostatic Hypotension 2

ClinVar genetic disease variations for Orthostatic Hypotension 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYB561 NM_001915.4(CYB561):c.262G>A (p.Gly88Arg) SNV Pathogenic 590763 rs772361572 GRCh37: 17:61513454-61513454
GRCh38: 17:63436093-63436093
2 CYB561 NM_001915.4(CYB561):c.131G>A (p.Trp44Ter) SNV Pathogenic 590764 rs1437737028 GRCh37: 17:61514778-61514778
GRCh38: 17:63437417-63437417

UniProtKB/Swiss-Prot genetic disease variations for Orthostatic Hypotension 2:

72
# Symbol AA change Variation ID SNP ID
1 CYB561 p.Gly88Arg VAR_081731 rs772361572

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....