TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER

General Information (adopted from Orphanet):

Synonyms, Signs: OSLER-RENDU-WEBER DISEASE
ORW DISEASE TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, INCLUDED
HHT1, INCLUDED
HHT
Number of Symptoms 39
OrphanetNr:
OMIM Id: 187300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000214) Lip telangiectasia 6 / 7739
2
(HPO:0004406) Spontaneous, recurrent epistaxis 7 / 7739
3
(HPO:0002707) Palate telangiectasia 4 / 7739
4
(HPO:0000524) Conjunctival telangiectasia 17 / 7739
5
(HPO:0002076) Migraine 41 / 7739
6
(HPO:0001250) Seizures 1245 / 7739
7
(HPO:0001217) Clubbing 39 / 7739
8
(HPO:0006574) Hepatic arteriovenous malformation 5 / 7739
9
(HPO:0001394) Cirrhosis 102 / 7739
10
(HPO:0002584) Intestinal bleeding 16 / 7739
11
(HPO:0002249) Melena 11 / 7739
12
(HPO:0002573) Hematochezia 18 / 7739
13
(HPO:0002248) Hematemesis 12 / 7739
14
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
15
(HPO:0000961) Cyanosis 60 / 7739
16
(HPO:0006107) Fingerpad telangiectases 3 / 7739
17
(HPO:0001009) Telangiectasia 46 / 7739
18
(HPO:0001232) Nail bed telangiectasia 3 / 7739
19
(HPO:0002138) Subarachnoid hemorrhage 9 / 7739
20
(HPO:0002390) Spinal arteriovenous malformation 4 / 7739
21
(HPO:0002408) Cerebral arteriovenous malformation 7 / 7739
22
(HPO:0002140) Ischemic stroke 70 / 7739
23
(HPO:0002642) Arteriovenous fistulas of celiac and mesenteric vessels 3 / 7739
24
(HPO:0001722) High-output congestive heart failure 4 / 7739
25
(HPO:0001342) Cerebral hemorrhage 24 / 7739
26
(HPO:0006548) Pulmonary arteriovenous malformation 5 / 7739
27
(HPO:0100026) Arteriovenous malformation 38 / 7739
28
(HPO:0002326) Transient ischemic attack 13 / 7739
29
(HPO:0001694) Right-to-left shunt 5 / 7739
30
(HPO:0001903) Anemia 289 / 7739
31
(HPO:0001901) Polycythemia 16 / 7739
32
(HPO:0002094) Dyspnea 132 / 7739
33
(OMIM) Tongue telangiectases 3 / 7739
34
(MedDRA:10061636) Angiodysplasia 2 / 7739
35
(OMIM) Venous varicosities 1 / 7739
36
(OMIM) Nasal mucosa telangiectases 3 / 7739
37
(OMIM) Paradoxical cerebral emboli 1 / 7739
38
(MedDRA:10003143) Arterial aneurysm NOS 4 / 7739
39
(MedDRA:10006105) Brain abscess 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, ...
Clinical Description OMIM HHT is highly penetrant; Plauchu et al. (1989) in a series of 384 patients found at least 1 manifestation in 97%, while Porteous et al. (1992) found complete penetrance by 40 years of age in a series of ...
Genotype-Phenotype Correlations OMIM Berg et al. (2003) performed a questionnaire-based study to delineate phenotypic differences between HHT1 and HHT2, which are caused by mutation in the ENG gene and ALK1 (601284) gene, respectively. The questionnaires were completed by 83 patients with ...
Molecular genetics OMIM McAllister et al. (1994) examined endoglin (ENG; 131195), a transforming growth factor-beta (TGF-beta) binding protein, as a candidate gene for HHT because of its chromosomal location, expression pattern, and function. They identified mutations in the ENG gene in ...
Population genetics OMIM In a study of 18 families, Tuente (1964) estimated the frequency of the condition to be 1 or 2 in 100,000. The mutation rate was estimated to be 2 x 10(-6) to 3 x 10(-6).

Porteous ...