Telangiectasia, hereditary hemorrhagic, type 1
- Synonyms
- ENG-Related Hereditary Hemorrhagic Telangiectasia; Osler Weber Rendu syndrome type 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Jamie McDonald
- David A Stevenson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Polycythemia
Polycythemia
- MedGen UID: 18552
- Concept ID: C0032461
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
- MedGen UID: 816045
- Concept ID: C3809715
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Tongue telangiectasia
Tongue telangiectasia
- MedGen UID: 871382
- Concept ID: C4025878
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Tongue telangiectasia
- Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubbing
- Abnormality of the cardiovascular system
- Arteriovenous fistulas of celiac and mesenteric vessels
Arteriovenous fistulas of celiac and mesenteric vessels
- MedGen UID: 387886
- Concept ID: C1857693
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Cerebral arteriovenous malformation
Cerebral arteriovenous malformation
- MedGen UID: 214590
- Concept ID: C0917804
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Cerebral hemorrhage
Cerebral hemorrhage
- MedGen UID: 423648
- Concept ID: C2937358
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Dilatation of celiac artery
Dilatation of celiac artery
- MedGen UID: 1393390
- Concept ID: C4477059
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Dilatation of mesenteric artery
Dilatation of mesenteric artery
- MedGen UID: 1381896
- Concept ID: C4476552
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Gastrointestinal angiodysplasia
Gastrointestinal angiodysplasia
- MedGen UID: 163130
- Concept ID: C0854242
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Gastrointestinal arteriovenous malformation
Gastrointestinal arteriovenous malformation
- MedGen UID: 148166
- Concept ID: C0744321
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Hepatic arteriovenous malformation
Hepatic arteriovenous malformation
- MedGen UID: 101044
- Concept ID: C0520557
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- High-output congestive heart failure
High-output congestive heart failure
- MedGen UID: 196646
- Concept ID: C0742747
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arterial hypertension
Pulmonary arterial hypertension
- MedGen UID: 425404
- Concept ID: C2973725
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation
- MedGen UID: 341826
- Concept ID: C1857690
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Pulmonary hemorrhage
Pulmonary hemorrhage
- MedGen UID: 57732
- Concept ID: C0151701
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Right-to-left shunt
Right-to-left shunt
- MedGen UID: 98446
- Concept ID: C0428871
- Finding: Finding
Abnormality of the cardiovascular system
- Spinal arteriovenous malformation
Spinal arteriovenous malformation
- MedGen UID: 83876
- Concept ID: C0348023
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Transient ischemic attack
Transient ischemic attack
- MedGen UID: 853
- Concept ID: C0007787
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Venous varicosities of celiac and mesenteric vessels
Venous varicosities of celiac and mesenteric vessels
- MedGen UID: 341828
- Concept ID: C1857692
- Finding: Finding
Abnormality of the cardiovascular system
- Arteriovenous fistulas of celiac and mesenteric vessels
- Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastrointestinal hemorrhage
Gastrointestinal hemorrhage
- MedGen UID: 8971
- Concept ID: C0017181
- Finding: Pathologic Function
Abnormality of the digestive system
- Hematemesis
Hematemesis
- MedGen UID: 6770
- Concept ID: C0018926
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hematochezia
Hematochezia
- MedGen UID: 5481
- Concept ID: C0018932
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Melena
Melena
- MedGen UID: 7523
- Concept ID: C0025222
- Finding: Pathologic Function
Abnormality of the digestive system
- Cirrhosis of liver
- Abnormality of the immune system
- Brain abscess
Brain abscess
- MedGen UID: 2335
- Concept ID: C0006105
- Finding: Disease or Syndrome
Abnormality of the immune system
- Brain abscess
- Abnormality of the integument
- Conjunctival telangiectasia
Conjunctival telangiectasia
- MedGen UID: 66780
- Concept ID: C0239105
- Finding: Disease or Syndrome
Abnormality of the integument
- Cyanosis
Cyanosis
- MedGen UID: 1189
- Concept ID: C0010520
- Finding: Sign or Symptom
Abnormality of the integument
- Fingerpad telangiectases
Fingerpad telangiectases
- MedGen UID: 396091
- Concept ID: C1861248
- Finding: Finding
Abnormality of the integument
- Gastrointestinal telangiectasia
Gastrointestinal telangiectasia
- MedGen UID: 451085
- Concept ID: C1619711
- Finding: Disease or Syndrome
Abnormality of the integument
- Lip telangiectasia
Lip telangiectasia
- MedGen UID: 347522
- Concept ID: C1857697
- Finding: Finding
Abnormality of the integument
- Nail bed telangiectasia
Nail bed telangiectasia
- MedGen UID: 373904
- Concept ID: C1838167
- Finding: Finding
Abnormality of the integument
- Nasal mucosa telangiectasia
Nasal mucosa telangiectasia
- MedGen UID: 871359
- Concept ID: C4025853
- Finding: Finding
Abnormality of the integument
- Palate telangiectasia
Palate telangiectasia
- MedGen UID: 387887
- Concept ID: C1857699
- Finding: Finding
Abnormality of the integument
- Telangiectasia
Telangiectasia
- MedGen UID: 21088
- Concept ID: C0039446
- Finding: Finding
Abnormality of the integument
- Telangiectasia of the skin
Telangiectasia of the skin
- MedGen UID: 867629
- Concept ID: C4022018
- Finding: Finding
Abnormality of the integument
- Conjunctival telangiectasia
- Abnormality of the nervous system
- Ischemic stroke
Ischemic stroke
- MedGen UID: 215292
- Concept ID: C0948008
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Subarachnoid hemorrhage
Subarachnoid hemorrhage
- MedGen UID: 11625
- Concept ID: C0038525
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Ischemic stroke
- Abnormality of the respiratory system
- Dyspnea
Dyspnea
- MedGen UID: 3938
- Concept ID: C0013404
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Exertional dyspnea
Exertional dyspnea
- MedGen UID: 68549
- Concept ID: C0231807
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Hemoptysis
Hemoptysis
- MedGen UID: 5502
- Concept ID: C0019079
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Hemothorax
Hemothorax
- MedGen UID: 5510
- Concept ID: C0019123
- Finding: Pathologic Function
Abnormality of the respiratory system
- Hypoxemia
Hypoxemia
- MedGen UID: 152145
- Concept ID: C0700292
- Finding: Finding
Abnormality of the respiratory system
- Reduced FEV1/FVC ratio
Reduced FEV1/FVC ratio
- MedGen UID: 898646
- Concept ID: C4280729
- Finding: Finding
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Dyspnea
- Constitutional symptom
- Chest pain
Chest pain
- MedGen UID: 2992
- Concept ID: C0008031
- Finding: Sign or Symptom
Constitutional symptom
- Chest pain
- Shovlin et al., 2000Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.