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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRendu-Osler-Weber disease, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Rendu-Osler-Weber disease comprising 3 guideline-curated genes and altogether 9 curated genes according to the clinical signs

Number of genes
8 Accredited laboratory test
Examined sequence length
12,5 kb (Core-/Core-canditate-Genes)
24,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia) is a rare disorder that affects blood vessels throughout the body, causes vascular dysplasia and leads to a tendency to bleed. The prognosis varies depending on the severity of the symptoms, but is generally good. Muco-cutaneous telangiectasias and arteriovenous malformations occur as well as lesions in the nasopharynx, central nervous system, lungs, liver, spleen and in the urinary and gastrointestinal tracts, conjunctiva, trunk etc. 50% of patients have nose bleeds by their tenth birthday, >80% by the age of 21. Practically all of them develop recurrent epistaxis and later (muco-)cutaneous telangiectasias. Cerebral arteriovenous malformations are almost always congenital. Hereditary hemorrhagic telangiectasia is inherited autosomal dominantly with considerable intrafamilial variability and age-related penetrance with more manifestations in older age. The diagnostic yield is over 75%. An inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1351/


  • Alias: Hereditary haemorrhagic telangiectasia
  • Alias: Hereditäre hämorragische Teleangiektasie
  • Alias: Morbus Osler
  • Alias: Osler-Weber-Rendu Disease
  • Alias: Rendu-Osler disease
  • Allelic: Basal cell carcinoma, somatic (RASA1)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Lymphatic malformation 7 (EPHB4)
  • Allelic: Myhre syndrome (SMAD4)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Pulmonary arterial hypertension (ACVRL1)
  • Allelic: Pulmonary hypertension, familial primary, 1, with/-out HHT (BMPR2)
  • Allelic: Pulmonary hypertension, primary, fenfluramine-/dexfenfluramine-associated (BMPR2)
  • Ataxia-telangiectasia (ATM)
  • Capillary malformation-arteriovenous malformation 1 (RASA1)
  • Capillary malformation-arteriovenous malformation 2 (EPHB4)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Pulmonary venoocclusive disease 1 (BMPR2)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
  • von Willebrand disease, types 1, 2A, 2B, 2M, 2N, 3
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined