MCID: CLC061
MIFTS: 10

Calcific Aortic Disease with Immunologic Abnormalities, Familial

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Calcific Aortic Disease with Immunologic Abnormalities, Familial

MalaCards integrated aliases for Calcific Aortic Disease with Immunologic Abnormalities, Familial:

Name: Calcific Aortic Disease with Immunologic Abnormalities, Familial 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
calcific aortic disease with immunologic abnormalities, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 114065
MedGen 42 C1861974

Summaries for Calcific Aortic Disease with Immunologic Abnormalities, Familial

MalaCards based summary : Calcific Aortic Disease with Immunologic Abnormalities, Familial Related phenotypes are aortic valve stenosis and aortic valve calcification

More information from OMIM: 114065

Related Diseases for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Symptoms & Phenotypes for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Human phenotypes related to Calcific Aortic Disease with Immunologic Abnormalities, Familial:

32
# Description HPO Frequency HPO Source Accession
1 aortic valve stenosis 32 HP:0001650
2 aortic valve calcification 32 HP:0004380
3 increased antibody level in blood 32 HP:0010702
4 aortic regurgitation 32 HP:0001659

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
aortic regurgitation
aortic stenosis
nodular calcific aortic valve disease

Lab:
extensive aortic medial necrosis with secondary calcification of elastic tissue without evidence of previous inflammation or other destructive or reparative processes

Immunology:
increased levels of globulins
lambda-chain gammopathy
increased t4/t8 lymphocyte ratio

Clinical features from OMIM:

114065

Drugs & Therapeutics for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Search Clinical Trials , NIH Clinical Center for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Genetic Tests for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Anatomical Context for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Publications for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Articles related to Calcific Aortic Disease with Immunologic Abnormalities, Familial:

# Title Authors PMID Year
1
Familial calcification of aorta and calcific aortic valve disease associated with immunologic abnormalities. 8
8213448 1993
2
Ascending aortic calcification and calcific aortic stenosis in a young woman. 8
3706119 1986
3
Morphological findings in idiopathic calcification of the ascending aorta and aortic valve affecting a young woman. 8
468121 1979
4
Idiopathic aortitis with calcification of ascending aorta, and aortic and mitral valves. 8
1275992 1976
5
Idiopathic calcification of the ascending aorta and aortic valve in two young women. 8
4274182 1974

Variations for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Expression for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Search GEO for disease gene expression data for Calcific Aortic Disease with Immunologic Abnormalities, Familial.

Pathways for Calcific Aortic Disease with Immunologic Abnormalities, Familial

GO Terms for Calcific Aortic Disease with Immunologic Abnormalities, Familial

Sources for Calcific Aortic Disease with Immunologic Abnormalities, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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