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congenital amegakaryocytic thrombocytopenia 1 (CAMT1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital amegakaryocytic thrombocytopenia 1

MONDO:0800452

Also known as:CAMT1amegakaryocytic thrombocytopenia, congenital 1congenital amegakaryocytic thrombocytopenic purpura

Overview

A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

GeneticsAutosomal recessive · MPL (chr 1)

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 very common findings: Low platelet count (thrombocytopenia) and Abnormal hemoglobin; and common findings: Coarse facial features, Short neck, Melanocytic nevus, and Low red blood cell count (anemia) and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Amegakaryocytic thrombocytopenia, Low platelet count (thrombocytopenia), Low blood cell counts (all types) (pancytopenia)

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.

MPL encodes MPL proto-oncogene, thrombopoietin receptor (635 aa). Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Highest expression in Testis (1.5 TPM) and Ovary (0.7 TPM).

Congenital amegakaryocytic thrombocytopenia 1 is caused by mutations in the MPL gene on chromosome 1.

The MPL protein participates in SH2B proteins bind JAK2 and Factors involved in megakaryocyte development and platelet production pathways.

MPL is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, and Kinase categories) with score 9.5.

Diagnosis

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

Biomarker and diagnostic research for congenital amegakaryocytic thrombocytopenia 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 7 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 congenital amegakaryocytic thrombocytopenia 1.

17 publications have been identified in PubMed for congenital amegakaryocytic thrombocytopenia 1. Research spans Case Report / Case Series (64%), Other (7%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Patient case studies	9	64%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604498

Orphanet

European rare disease database

Orphanet:3319

GARD

Genetic and Rare Diseases Info Center

GARD:640

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

congenital amegakaryocytic thrombocytopenia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital amegakaryocytic thrombocytopenia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications