Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome: genes and variants
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome is linked to 1 analyzed protein (PDGFRB). 4 DNA variants are known to cause it; 95 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 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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.
4 disease-causing and 95 uncertain variants in PDGFRB are linked to Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome.
Known disease-causing variants in Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PDGFRB P584R | 584 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB P560L | 560 | Cytoplasmic | Disease-causing (★★) |
| PDGFRB A342V | 342 | Ig-like C2-type 4 | Disease-causing (★) |
| PDGFRB A828E | 828 | Protein kinase | Disease-causing (★) |
Same protein, different disease
- Infantile myofibromatosis is also caused by PDGFRB variants; they fall mostly in different places as the Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 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 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome variants (6 disease-causing).
- Myofibromatosis, infantile, 2 is also caused by PDGFRB variants; they fall mostly in different places as the Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome variants (4 disease-causing).
Diseases related to Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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
- Acroosteolysis-keloid-like lesions-premature aging syndrome, also linked to PDGFRB
- Renal cell carcinoma, 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 Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome?
In CATVariant, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome is linked to 1 analyzed protein: PDGFRB (Platelet-derived growth factor receptor beta).
How many genetic variants are linked to Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome?
154 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 95 are of uncertain significance or have conflicting reports.
Which uncertain variants in Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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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