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dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Digestive system	5	Enlarged liver (hepatomegaly), Cholelithiasis, Liver inflammation (hepatitis)
Blood and immune system	4	Hemoglobinuria, Increased mean corpuscular hemoglobin concentration, Increased immature red blood cells (reticulocytosis)
Lab test results	2	Elevated ferritin (iron storage marker) (increased circulating ferritin concentration), Increased mean corpuscular hemoglobin concentration
Eyes	1	Conjunctival icterus

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 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema.

155 publications have been identified in PubMed for dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	46	33%
Laboratory research	30	22%
Disease patterns and progression	29	21%
Research summaries	18	13%
Clinical study results	6	4%
Testing and diagnosis research	5	4%
New treatment approaches	4	3%

Recent Publications

Chirakalwasan N (2026). [PMID: 42161452](https://pubmed.ncbi.nlm.nih.gov/42161452/). *Sleep Med Clin*. [Review / Meta-Analysis]
Yang W (2026). [PMID: 42090278](https://pubmed.ncbi.nlm.nih.gov/42090278/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Nii M (2026). [PMID: 42252201](https://pubmed.ncbi.nlm.nih.gov/42252201/). *Circ J*. [Basic Science / Preclinical]
Kanjee Z (2026). [PMID: 42134749](https://pubmed.ncbi.nlm.nih.gov/42134749/). *Mayo Clin Proc*. [Review / Meta-Analysis]
Liu T (2026). [PMID: 42245174](https://pubmed.ncbi.nlm.nih.gov/42245174/). *Front Pediatr*. [Case Report / Case Series]
Zhang M (2026). [PMID: 41453668](https://pubmed.ncbi.nlm.nih.gov/41453668/). *Journal of affective disorders*. [Basic Science / Preclinical]
Beardmore-Gray A (2026). [PMID: 42161381](https://pubmed.ncbi.nlm.nih.gov/42161381/). *Cochrane Database Syst Rev*. [Review / Meta-Analysis]
Vives-Corrons JL (2026). [PMID: 41596371](https://pubmed.ncbi.nlm.nih.gov/41596371/). *Int J Mol Sci*. [Review / Meta-Analysis]
Rezaei R (2026). [PMID: 41645043](https://pubmed.ncbi.nlm.nih.gov/41645043/). *DNA and cell biology*. [Case Report / Case Series]
Hochstetler A (2026). [PMID: 41736153](https://pubmed.ncbi.nlm.nih.gov/41736153/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]

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dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team