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myeloproliferative disease, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myeloproliferative disease, autosomal recessive

MONDO:0009695

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 articles)

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: Reduced leukocyte alkaline phosphatase and Myeloproliferative disorder.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Reduced leukocyte alkaline phosphatase
Brain and nerves

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 myeloproliferative disease, autosomal recessive.

3 publications have been identified in PubMed for myeloproliferative disease, autosomal recessive. Research spans Other (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Zhu R (2026). [PMID: 41312619](https://pubmed.ncbi.nlm.nih.gov/41312619/). *Mov Disord*. [Other]
Alesufi A (2026). [PMID: 42152419](https://pubmed.ncbi.nlm.nih.gov/42152419/). *Medicine (Baltimore)*. [Epidemiology / Natural History]
Niemeyer CM (2024). [PMID: 38618667](https://pubmed.ncbi.nlm.nih.gov/38618667/). *Haematologica*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:254700

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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myeloproliferative disease, autosomal recessive

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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