Parkes-Weber syndrome (capillary malformation – arteriovenous malformation) [2 genes]

Parkes-Weber syndrome consists of the association of multiple cutaneous capillary malformations (typically in the face, extremities, or trunk) with malformations and high-flow arteriovenous micro- or macro-fistulas (mainly in the face and brain) together with skeletal or soft tissue hypertrophy of the affected or adjacent territory. Complications such as abnormal bleeding or heart failure may be associated with this entity.

The incidence in the population is unknown (ORPHA:90307)

The capillary malformation – arteriovenous malformation phenotype is related to the two genes contemplated in this service, RASA1 and EPHB4. Simultaneous exome analysis from a blood sample is the best strategy to find the genetic cause in patients.

The benefits derived from a genetic diagnosis are aimed at closing the diagnosis and family genetic counseling.

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Parkes-Weber syndrome (capillary malformation - arteriovenous malformation)

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314151

Updated (dd/mm/yy): 01/12/2025

Parkes-Weber syndrome (capillary malformation – arteriovenous malformation): View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all high-evidence genes related to capillary malformation – arteriovenous malformation.

  • RASA1
  • EPHB4

 

Priority Genes: Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Capillary malformation – arteriovenous malformation