Myeloproliferative disorder, chronic, with eosinophilia: genes and variants
Myeloproliferative disorder, chronic, with eosinophilia is linked to 1 analyzed protein (PDGFRB). 2 DNA variants are known to cause it; 5 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Myeloproliferative disorder, chronic, with eosinophilia
PDGFRB: Platelet-derived growth factor receptor beta
Its signaling supports pericytes, vascular smooth-muscle cells, and other mesenchymal lineages during growth and tissue repair. Oncogenic fusions drive myeloid neoplasms, while germline activating or loss-of-function variants can cause developmental and vascular disorders.
2 disease-causing and 5 uncertain variants in PDGFRB are linked to Myeloproliferative disorder, chronic, with eosinophilia.
Known disease-causing variants in Myeloproliferative disorder, chronic, with eosinophilia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PDGFRB P584R | 584 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB N666S | 666 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- Infantile myofibromatosis is also caused by PDGFRB variants; they fall mostly in different places as the Myeloproliferative disorder, chronic, with eosinophilia variants (8 disease-causing).
- Acroosteolysis-keloid-like lesions-premature aging syndrome is also caused by PDGFRB variants; they fall mostly in different places as the Myeloproliferative disorder, chronic, with eosinophilia variants (6 disease-causing).
- Myofibromatosis, infantile, 2 is also caused by PDGFRB variants; they fall mostly in different places as the Myeloproliferative disorder, chronic, with eosinophilia variants (4 disease-causing).
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome is also caused by PDGFRB variants; they fall mostly in different places as the Myeloproliferative disorder, chronic, with eosinophilia variants (4 disease-causing).
Diseases related to Myeloproliferative disorder, chronic, with eosinophilia
- Gastrointestinal stromal tumor, also linked to PDGFRB
- Acute myeloid leukemia, also linked to PDGFRB
- Colorectal cancer, also linked to PDGFRB
- Non-small cell lung carcinoma, also linked to PDGFRB
- Myofibromatosis, infantile, 2, also linked to PDGFRB
- Idiopathic pulmonary fibrosis, also linked to PDGFRB
- Infantile myofibromatosis, also linked to PDGFRB
- Hepatocellular carcinoma, also linked to PDGFRB
- Acroosteolysis-keloid-like lesions-premature aging syndrome, also linked to PDGFRB
- Renal cell carcinoma, also linked to PDGFRB
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, also linked to PDGFRB
- Basal ganglia calcification, idiopathic, 4, also linked to PDGFRB
Frequently asked questions
Which genes are linked to Myeloproliferative disorder, chronic, with eosinophilia?
In CATVariant, Myeloproliferative disorder, chronic, with eosinophilia is linked to 1 analyzed protein: PDGFRB (Platelet-derived growth factor receptor beta).
How many genetic variants are linked to Myeloproliferative disorder, chronic, with eosinophilia?
8 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myeloproliferative disorder, chronic, with eosinophilia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center