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congenital amegakaryocytic thrombocytopenia

MeSH: C535982ORPHA: 33191 Treatment Available

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34

Available Treatments (1)

DrugFormStatusCountriesLead Time
ruxolitinib
Orphan
Oral tablet, 5mg, 10mg, 15mg, 20mg, 25mg; Topical cream 1.5%FDA Approved117d

Clinical Presentation

Signs and symptoms associated with congenital amegakaryocytic thrombocytopenia, sourced from HPO and Orphanet clinical annotations.

Coarse facial featuresShort neckMelanocytic nevusAbnormal cardiac septum morphologyThrombocytopeniaAnemiaScoliosisAbnormal form of the vertebral bodiesShort statureDecreased skull ossificationAbnormal hemoglobin

Classification & Codes

MeSH Code

C535982

Orphanet Code

ORPHA:3319
congenital amegakaryocytic thrombocytopenia
MeSHC535982
OrphanetORPHA:3319
Treatments1 drug(s)
Symptoms on record11 signs
Statuspublished

Treatment Summary

ruxolitinib· Orphan
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO