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erythroleukemia, familial, susceptibility to - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythroleukemia, familial, susceptibility to

MONDO:0007573

Also known as:hereditary acute erythroid leukaemiahereditary acute erythroid leukemiaDi Guglielmo disease, familial

Overview

An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Refractory anemia with ringed sideroblasts. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Low red blood cell count (anemia), Refractory anemia with ringed sideroblasts, Low platelet count (thrombocytopenia)

Prognosis

Phenotype severity distribution: 1 always present feature.

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 erythroleukemia, familial, susceptibility to.

1 publication has been identified in PubMed for erythroleukemia, familial, susceptibility to. Research spans Epidemiology / Natural History (100%).

Recent Publications

Zerella JR (2024). [PMID: 38991192](https://pubmed.ncbi.nlm.nih.gov/38991192/). *Blood*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:133180

Questions for Your Care Team

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erythroleukemia, familial, susceptibility to

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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