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thrombocytopenia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 2

MONDO:0008555

Also known as:thrombocytopenia type 2THC2thrombocytopenia autosomal dominant 2

Overview

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.

GeneticsAutosomal dominant · ANKRD26 (chr 10)

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: Increased megakaryocyte colony forming unit count, Bruising susceptibility, and Low platelet count (thrombocytopenia). 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Abnormal platelet volume, Low platelet count (thrombocytopenia), Abnormal platelet shape

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.

ANKRD26 encodes ankyrin repeat domain 26 (1,710 aa). Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior Highest expression in Cells EBV-transformed lymphocytes (8.5 TPM) and Pituitary (8.3 TPM).

Thrombocytopenia 2 is caused by mutations in the ANKRD26 gene on chromosome 10.

ANKRD26 is classified as a druggable target with score 0.0.

GeneReviews

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 thrombocytopenia 2. 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 thrombocytopenia 2.

25 publications have been identified in PubMed for thrombocytopenia 2. Research spans Epidemiology / Natural History (32%), Clinical Trial Publication (24%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	8	32%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 7:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:188000

GARD

Genetic and Rare Diseases Info Center

GARD:5191

Questions for Your Care Team

→Should I pursue genetic testing for ANKRD26, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

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

thrombocytopenia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

thrombocytopenia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Prevention of Secondary Complications

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications