TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED
Number of Symptoms 46
OrphanetNr:
OMIM Id: 600376
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[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:0000434) Nasal mucosa telangiectasia 3 / 7739
3
(HPO:0004406) Spontaneous, recurrent epistaxis 7 / 7739
4
(HPO:0002707) Palate telangiectasia 4 / 7739
5
(HPO:0000227) Tongue telangiectasia 3 / 7739
6
(HPO:0000524) Conjunctival telangiectasia 17 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0002076) Migraine 41 / 7739
9
(HPO:0001217) Clubbing 39 / 7739
10
(HPO:0100760) Clubbing of toes 24 / 7739
11
(HPO:0002584) Intestinal bleeding 16 / 7739
12
(HPO:0000471) Gastrointestinal angiodysplasia 3 / 7739
13
(HPO:0002629) Gastrointestinal arteriovenous malformation 2 / 7739
14
(HPO:0002249) Melena 11 / 7739
15
(HPO:0002248) Hematemesis 12 / 7739
16
(HPO:0002573) Hematochezia 18 / 7739
17
(HPO:0006574) Hepatic arteriovenous malformation 5 / 7739
18
(HPO:0002604) Gastrointestinal telangiectasia 2 / 7739
19
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
20
(HPO:0001394) Cirrhosis 102 / 7739
21
(HPO:0006107) Fingerpad telangiectases 3 / 7739
22
(HPO:0001232) Nail bed telangiectasia 3 / 7739
23
(HPO:0000961) Cyanosis 60 / 7739
24
(HPO:0001009) Telangiectasia 46 / 7739
25
(HPO:0001342) Cerebral hemorrhage 24 / 7739
26
(HPO:0001297) Stroke 44 / 7739
27
(HPO:0002408) Cerebral arteriovenous malformation 7 / 7739
28
(HPO:0002140) Ischemic stroke 70 / 7739
29
(HPO:0002170) Intracranial hemorrhage 40 / 7739
30
(HPO:0002390) Spinal arteriovenous malformation 4 / 7739
31
(HPO:0001694) Right-to-left shunt 5 / 7739
32
(HPO:0000822) Hypertension 224 / 7739
33
(HPO:0002138) Subarachnoid hemorrhage 9 / 7739
34
(HPO:0002092) Pulmonary hypertension 109 / 7739
35
(HPO:0100026) Arteriovenous malformation 38 / 7739
36
(HPO:0006548) Pulmonary arteriovenous malformation 5 / 7739
37
(HPO:0002326) Transient ischemic attack 13 / 7739
38
(HPO:0001901) Polycythemia 16 / 7739
39
(HPO:0001903) Anemia 289 / 7739
40
(HPO:0002094) Dyspnea 132 / 7739
41
(MedDRA:10061636) Angiodysplasia 2 / 7739
42
(OMIM) Tongue telangiectases 3 / 7739
43
(OMIM) A subset of patients develop pulmonary arterial hypertension 1 / 7739
44
(OMIM) Nasal mucosa telangiectases 3 / 7739
45
(MedDRA:10006105) Brain abscess 2 / 7739
46
(OMIM) Choriocapillaris atrophy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McDonald et al. (2000) reported clinical features of a large kindred in which 38 members had HHT2 confirmed by genetic analysis (see 601284.0004 and Berg et al., 1997). Visceral findings of HHT2 included pulmonary arteriovenous malformations (PAVMs) (6%), ...
Genotype-Phenotype Correlations OMIM Among 14 kindreds with HHT1 and 12 with HHT2 confirmed by genetic analysis, Bayrak-Toydemir et al. (2006) found that HHT2 was associated with later onset and more hepatic involvement than HHT1.

Among 18 German adults with ...

Molecular genetics OMIM In 3 families with HHT2, Johnson et al. (1996) identified mutations in the ALK1 gene (601284.0001-601284.0003). The finding suggested a critical role for ALK1 in the control of blood vessel development or repair.

Kjeldsen et al. ...

Population genetics OMIM In a large-scale French epidemiologic study, Bideau et al. (1989) found an average prevalence of HHT to be 1 in 8,345, which was more than 10 times higher than expected at that time. The distribution of the disease ...