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inherited thrombocytopenia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited thrombocytopenia

MONDO:0100241

Also known as:hereditary thrombocytopenia

Overview

An instance of thrombocytopenia that is inherited.

OnsetCONGENITAL

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.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

Individuals with ANKRD26-related thrombocytopenia usually present with lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Incidental presentation following routine complete blood count is not uncommon. Some individuals are identified after developing a myeloid neoplasm such as acute myeloid leukemia or myelodysplastic syndrome. Bleeding history. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

ANKRD26-related thrombocytopenia is a nonsyndromic congenital thrombocytopenia disorder lacking pathognomonic features and thus requiring molecular confirmation of a heterozygous ANKRD26 pathogenic variant to establish a diagnosis. Formal diagnostic criteria have not been published.

Suggestive Findings

ANKRD26-related thrombocytopenia should be suspected in individuals with the following:

Source: GeneReviews — "ANKRD26-Related Thrombocytopenia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for inherited thrombocytopenia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ANKRD26-related thrombocytopenia, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Surveillance for early detection of myeloid neoplasms is indicated in all individuals with ANKRD26-related thrombocytopenia. Guidelines have not been published on the type of testing or frequency of surveillance. A complete blood count on an annual basis with bone marrow examination if abnormalities are noted is commonly recommended.

Source: GeneReviews — "ANKRD26-Related Thrombocytopenia"

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 inherited thrombocytopenia.

47 publications have been identified in PubMed for inherited thrombocytopenia. Research spans Basic Science / Preclinical (36%), Case Report / Case Series (19%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Laboratory research	17	36%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→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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GeneReviews

Differential Diagnosis

Due to the clinical and genetic heterogeneity and low incidence of inherited platelet disorders, the diagnosis is challenging, and sometimes inherited platelet disorders are misdiagnosed as idiopathic thrombocytopenic purpura (immune thrombocytopenia; ITP). Complex diagnostic algorithms have been proposed . Table 2. Disorders to Consider in the Differential Diagnosis of ANKRD26-Related Thrombocytopenia

Disorder	Gene(s)	MOI	Clinical Features
RUNX1	AD	Nonsyndromic thrombocytopenia w/normal platelet size predisposition to myeloid neoplasms	FPD/AML:; Can have normal platelet counts; More bleeding due to platelet storage pool disorder (dense granule deficiency) ETV6-related thrombocytopenia (thrombocytopenia-5, ETV6-RT)
ETV6	AD	Nonsyndromic thrombocytopenia w/normal platelet size predisposition to myeloid neoplasms	ETV6-RT:; Can have red cell macrocytosis neutropenia; Predisposes to lymphoid malignancy CYCS-related thrombocytopenia (thrombocytopenia-4, CYCS-RT; OMIM 616216)
CYCS	AD	Nonsyndromic thrombocytopenia w/normal platelet size	CYCS-RT: Does not predispose to neoplasms
Immune thrombocytopenia (ITP)	NA	NA	Thrombocytopenia w/normal (or mildly elevated) platelet size, minimal bleeding unless thrombocytopenia is severe

Source: GeneReviews — "ANKRD26-Related Thrombocytopenia"

Kisho

inherited thrombocytopenia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

inherited thrombocytopenia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications