CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 114065
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:0001659) Aortic regurgitation 36 / 7739
2
(HPO:0001650) Aortic valve stenosis 49 / 7739
3
(HPO:0004759) Nodular calcific aortic valve disease 1 / 7739
4
(HPO:0010702) Increased antibody level in blood 29 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Extensive aortic medial necrosis with secondary calcification of elastic tissue without evidence of previous inflammation or other destructive or reparative processes 1 / 7739
7
(OMIM) Increased T4/T8 lymphocyte ratio 1 / 7739
8
(OMIM) Lambda-chain gammopathy 1 / 7739
9
(OMIM) Increased levels of globulins 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tentolouris et al. (1993) described 2 sisters, aged 53 and 61 years, and the 31-year-old son of the youngest sister who had linear calcification of the ascending aorta and severe calcific mixed (stenotic and regurgitant) aortic valve disease ...