MCID: CLC061
MIFTS: 9

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
calcific aortic disease with immunologic abnormalities, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 114065
MedGen 43 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 aortic valve stenosis 33 HP:0001650
2 aortic valve calcification 33 HP:0004380
3 increased antibody level in blood 33 HP:0010702
4 aortic regurgitation 33 HP:0001659

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
aortic regurgitation
nodular calcific aortic valve disease
aortic stenosis

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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