Hughes-Stovin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 228116
OMIM Id:
ICD-10: M35.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Predominantly large-vessel vasculitis
 -Rare circulatory system disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100576) Amaurosis fugax Frequent [Orphanet] 13 / 7739
2
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
3
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
4
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
5
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
6
 (HPO:0002617) Aneurysm Very frequent [Orphanet] 34 / 7739
7
 (HPO:0001695) Cardiac arrest Very frequent [Orphanet] 87 / 7739
8
 (HPO:0100545) Arterial stenosis Occasional [Orphanet] 22 / 7739
9
 (HPO:0012089) Arteritis Very frequent [Orphanet] 40 / 7739
10
 (HPO:0002092) Pulmonary hypertension Very frequent [Orphanet] 109 / 7739
11
 (HPO:0004420) Arterial thrombosis Frequent [Orphanet] 20 / 7739
12
 (HPO:0004936) Venous thrombosis Very frequent [Orphanet] 41 / 7739
13
 (HPO:0010741) Edema of the lower limbs Very frequent [Orphanet] 34 / 7739
14
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
15
 (HPO:0002204) Pulmonary embolism Very frequent [Orphanet] 26 / 7739
16
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
17
 (HPO:0002105) Hemoptysis Very frequent [Orphanet] 30 / 7739
18
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
19
 ([DEL]MedDRA:10011224) Cough Very frequent [Orphanet] 70 / 7739
20
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: