STORM SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 185069
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:0000535) Sparse and thin eyebrow 76 / 7739
2
 (HPO:0000518) Cataract 454 / 7739
3
 (HPO:0005195) Polyarticular arthropathy 1 / 7739
4
 (HPO:0200129) Calcific mitral stenosis 2 / 7739
5
 (HPO:0006694) Early progressive calcific cardiac valvular disease 1 / 7739
6
 (HPO:0004380) Aortic valve calcification 5 / 7739
7
 (HPO:0002630) Fat malabsorption 11 / 7739
8
 (HPO:0007495) Prematurely aged appearance 44 / 7739
9
 (HPO:0007605) Excessive wrinkling of palmar skin 2 / 7739
10
 (HPO:0001650) Aortic valve stenosis 49 / 7739
11
 (HPO:0004764) Myxomatous mitral valve degeneration 2 / 7739
12
 (HPO:0001634) Mitral valve prolapse 69 / 7739
13
 (OMIM) Calcific aortic stenosis 1 / 7739
14
 (OMIM) Intestinal fat malabsorption 1 / 7739
15
 (OMIM) No scleroderma-type changes 1 / 7739
16
 (OMIM) Taut skin over hands and face 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Thinning and graying of scalp hair in adolescence 1 / 7739
19
 (OMIM) Loss of eyebrows and eyelashes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: