MCID: CYS023
MIFTS: 7

Cystic Medial Necrosis of Aorta

Categories: Rare diseases

Aliases & Classifications for Cystic Medial Necrosis of Aorta

MalaCards integrated aliases for Cystic Medial Necrosis of Aorta:

Name: Cystic Medial Necrosis of Aorta 54
Erdheim Cystic Medial Necrosis of Aorta 54
Erdheim Disease 54

Classifications:



Summaries for Cystic Medial Necrosis of Aorta

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 229Disease definitionFamilial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cystic Medial Necrosis of Aorta, also known as erdheim cystic medial necrosis of aorta, is related to aortic aneurysm, familial thoracic 1 and langerhans cell histiocytosis. Affiliated tissues include brain.

Related Diseases for Cystic Medial Necrosis of Aorta

Diseases related to Cystic Medial Necrosis of Aorta via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 1 11.6
2 langerhans cell histiocytosis 9.8
3 histiocytosis 9.8

Symptoms & Phenotypes for Cystic Medial Necrosis of Aorta

Drugs & Therapeutics for Cystic Medial Necrosis of Aorta

Search Clinical Trials , NIH Clinical Center for Cystic Medial Necrosis of Aorta

Genetic Tests for Cystic Medial Necrosis of Aorta

Anatomical Context for Cystic Medial Necrosis of Aorta

MalaCards organs/tissues related to Cystic Medial Necrosis of Aorta:

42
Brain

Publications for Cystic Medial Necrosis of Aorta

Articles related to Cystic Medial Necrosis of Aorta:

# Title Authors Year
1
Brain stem infiltration by mixed Langerhans cell histiocytosis and Chester-Erdheim disease: more than just an isolated case? ( 10398577 )
1999

Variations for Cystic Medial Necrosis of Aorta

Expression for Cystic Medial Necrosis of Aorta

Search GEO for disease gene expression data for Cystic Medial Necrosis of Aorta.

Pathways for Cystic Medial Necrosis of Aorta

GO Terms for Cystic Medial Necrosis of Aorta

Sources for Cystic Medial Necrosis of Aorta

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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