Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

myopathy, lactic acidosis, and sideroblastic anemia 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Sideroblastic anemia, Muscle weakness, Cytochrome C oxidase-negative muscle fibers, and Ragged-red muscle fibers and others; and common findings: Low muscle tone (hypotonia), Scapular winging, Pigmentary retinopathy, and Generalized hypotonia and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	8	Low muscle tone (hypotonia), Generalized hypotonia, Gowers sign
Lab test results	4	Increased circulating lactate concentration, Decreased activity of mitochondrial complex I, Elevated ferritin (iron storage marker) (increased circulating ferritin concentration)
Blood and immune system	3	Sideroblastic anemia, Small red blood cells (microcytic anemia), Pale red blood cells (hypochromic anemia)
Brain and nerves	3	Depressed nasal ridge, Intellectual disability, Exercise intolerance
Growth and development	2	Failure to thrive, Growth delay
Bones and joints	2	Excessive inward curvature of the lower spine (hyperlordosis), Joint hypermobility
Head and neck	2	High palate, Microcephaly
Eyes	1	Pigmentary retinopathy
Lungs and breathing	1	Restrictive ventilatory defect
Arms and legs	1	Generalized limb muscle atrophy
Hormones	1	Delayed puberty

Kisho

myopathy, lactic acidosis, and sideroblastic anemia 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

myopathy, lactic acidosis, and sideroblastic anemia 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team