STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615934
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001387) Joint stiffness rare [HPO:skoehler] 322 / 7739
2
 (HPO:0002829) Arthralgia rare [HPO:skoehler] 79 / 7739
3
 (HPO:0001508) Failure to thrive 454 / 7739
4
 (HPO:0001510) Growth delay 295 / 7739
5
 (HPO:0008404) Nail dystrophy 89 / 7739
6
 (HPO:0010783) Erythema 138 / 7739
7
 (HPO:0200039) Pustule 20 / 7739
8
 (HPO:0000965) Cutis marmorata 46 / 7739
9
 (HPO:0001009) Telangiectasia 46 / 7739
10
 (HPO:0001894) Thrombocytosis 16 / 7739
11
 (HPO:0001903) Anemia 289 / 7739
12
 (HPO:0010702) Increased antibody level in blood 29 / 7739
13
 (HPO:0001882) Leukopenia 51 / 7739
14
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
15
 (HPO:0001945) Fever 218 / 7739
16
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
17
 (HPO:0006530) Interstitial pulmonary disease 26 / 7739
18
 (HPO:0002729) Follicular hyperplasia 5 / 7739
19
 (HPO:0100614) Myositis rare [HPO:skoehler] 21 / 7739
20
 (HPO:0003326) Myalgia rare [HPO:skoehler] 143 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: