TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4

General Information (adopted from Orphanet):

Synonyms, Signs: HHT4
Number of Symptoms 27
OrphanetNr:
OMIM Id: 610655
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:0000434) Nasal mucosa telangiectasia 3 / 7739
2
 (HPO:0000214) Lip telangiectasia 6 / 7739
3
 (HPO:0000227) Tongue telangiectasia 3 / 7739
4
 (HPO:0002707) Palate telangiectasia 4 / 7739
5
 (HPO:0004406) Spontaneous, recurrent epistaxis 7 / 7739
6
 (HPO:0000524) Conjunctival telangiectasia 17 / 7739
7
 (HPO:0002076) Migraine 41 / 7739
8
 (HPO:0001009) Telangiectasia 46 / 7739
9
 (HPO:0000961) Cyanosis 60 / 7739
10
 (HPO:0006548) Pulmonary arteriovenous malformation 5 / 7739
11
 (HPO:0001722) High-output congestive heart failure 4 / 7739
12
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
13
 (HPO:0100858) Celiac artery aneurysm 2 / 7739
14
 (HPO:0002390) Spinal arteriovenous malformation 4 / 7739
15
 (HPO:0001694) Right-to-left shunt 5 / 7739
16
 (HPO:0002138) Subarachnoid hemorrhage 9 / 7739
17
 (HPO:0002408) Cerebral arteriovenous malformation 7 / 7739
18
 (HPO:0002626) Venous varicosities of celiac and mesenteric vessels 2 / 7739
19
 (HPO:0002642) Arteriovenous fistulas of celiac and mesenteric vessels 3 / 7739
20
 (HPO:0002326) Transient ischemic attack 13 / 7739
21
 (HPO:0011934) Mesenteric artery aneurysm 2 / 7739
22
 (HPO:0002140) Ischemic stroke 70 / 7739
23
 (HPO:0002094) Dyspnea 132 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (OMIM) Nasal mucosa telangiectases 3 / 7739
26
 (OMIM) Tongue telangiectases 3 / 7739
27
 (OMIM) Arterial aneurysm of celiac and mesenteric vessels 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bayrak-Toydemir et al. (2006) reported a family in which 8 members were definitely affected with HHT, and 4 were considered 'suspicious' for HHT. Inheritance was autosomal dominant. The proband was a 27-year-old woman with symptomatic hypoxia with clubbing ...