Acroosteolysis-keloid-like lesions-premature aging syndrome: genes and variants
Acroosteolysis-keloid-like lesions-premature aging syndrome is linked to 1 analyzed protein (PDGFRB). 6 DNA variants are known to cause it; 114 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 Acroosteolysis-keloid-like lesions-premature aging syndrome
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.
6 disease-causing and 114 uncertain variants in PDGFRB are linked to Acroosteolysis-keloid-like lesions-premature aging syndrome.
Where Acroosteolysis-keloid-like lesions-premature aging syndrome variants cluster
- PDGFRB Cytoplasmic (positions 554–1106): 6 of 6 disease-causing changes, 2.0× more than its size predicts.
Known disease-causing variants in Acroosteolysis-keloid-like lesions-premature aging syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PDGFRB R561C | 561 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB W566R | 566 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB N666H | 666 | Protein kinase | Disease-causing (★★) |
| PDGFRB P560L | 560 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB A828E | 828 | Protein kinase | Disease-causing (★) |
| PDGFRB V665A | 665 | Protein kinase | Disease-causing |
Same protein, different disease
- Infantile myofibromatosis is also caused by PDGFRB variants; they fall partly in the same places as the Acroosteolysis-keloid-like lesions-premature aging syndrome variants (8 disease-causing).
- Myofibromatosis, infantile, 2 is also caused by PDGFRB variants; they fall partly in the same places as the Acroosteolysis-keloid-like lesions-premature aging syndrome variants (4 disease-causing).
Diseases related to Acroosteolysis-keloid-like lesions-premature aging syndrome
- 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
- 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
- Myeloproliferative disorder, chronic, with eosinophilia, also linked to PDGFRB
Frequently asked questions
Which genes are linked to Acroosteolysis-keloid-like lesions-premature aging syndrome?
In CATVariant, Acroosteolysis-keloid-like lesions-premature aging syndrome is linked to 1 analyzed protein: PDGFRB (Platelet-derived growth factor receptor beta).
How many genetic variants are linked to Acroosteolysis-keloid-like lesions-premature aging syndrome?
181 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 114 are of uncertain significance or have conflicting reports.
Which uncertain variants in Acroosteolysis-keloid-like lesions-premature aging syndrome 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.
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