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orthostatic hypotension 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orthostatic hypotension 2

MONDO:0020751

Overview

GeneticsAutosomal recessive · CYB561 (chr 17)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Orthostatic hypotension, Low red blood cell count (anemia), Hypoglycemia, and Decreased glomerular filtration rate.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Low red blood cell count (anemia)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CYB561 encodes cytochrome b561 (251 aa). Transmembrane reductase that probably uses ascorbate as an electron donor to reduce Fe(3+) into Fe(2+) and could play a role in iron transport. Highest expression in Pituitary (101.0 TPM) and Minor Salivary Gland (74.7 TPM).

Orthostatic hypotension 2 is associated with mutations in the CYB561 gene on chromosome 17.

CYB561 is classified as a druggable target with score 10.4.

Diagnosis

Genetic testing for CYB561 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for orthostatic hypotension 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for orthostatic hypotension 2.

203 publications have been identified in PubMed for orthostatic hypotension 2. Kisho has analyzed 85 by research type. Research spans Review / Meta-Analysis (40%), Epidemiology / Natural History (39%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Research summaries	34	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618182

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

orthostatic hypotension 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

orthostatic hypotension 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications