MCID: ART134
MIFTS: 22

Aortic Aneurysm, Familial Thoracic 10

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 10

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 10:

Name: Aortic Aneurysm, Familial Thoracic 10 57 75 29 6
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 57 75
Aat10 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
aortic aneurysm, familial thoracic 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 10

UniProtKB/Swiss-Prot : 75 Aortic aneurysm, familial thoracic 10: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 10, also known as aortic aneurysm, thoracic, with or without aortic dissection, is related to aortic aneurysm, familial thoracic 9. An important gene associated with Aortic Aneurysm, Familial Thoracic 10 is LOX (Lysyl Oxidase). Affiliated tissues include smooth muscle and skin, and related phenotypes are high palate and myopia

Description from OMIM: 617168

Related Diseases for Aortic Aneurysm, Familial Thoracic 10

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4 Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11

Diseases related to Aortic Aneurysm, Familial Thoracic 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 9 11.7

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 10

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis (in some patients)

Head And Neck Mouth:
high-arched palate (in some patients)

Head And Neck Teeth:
dental crowding (rare)

Cardiovascular Vascular:
aneurysm of ascending aorta
aortic root aneurysm
fusiform aneurysm involving aortic root and ascending aorta
dissection and/or rupture of aortic aneurysm (in some patients)
aortic arch aneurysm (rare)
more
Skeletal Limbs:
joint hypermobility (in some patients)
dolichostenomelia (rare)

Head And Neck Eyes:
myopia (rare)

Growth Height:
tall stature (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)

Skin Nails Hair Skin:
skin striae (in some patients)

Cardiovascular Heart:
bicuspid aortic valve (in some patients)
mitral regurgitation (rare)
coronary artery disease (rare)

Neurologic Central Nervous System:
dural ectasia (in some patients)

Abdomen External Features:
abdominal hernia (rare)


Clinical features from OMIM:

617168

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 10:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 myopia 32 occasional (7.5%) HP:0000545
3 dental crowding 32 occasional (7.5%) HP:0000678
4 joint hypermobility 32 occasional (7.5%) HP:0001382
5 disproportionate tall stature 32 occasional (7.5%) HP:0001519
6 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
7 mitral regurgitation 32 occasional (7.5%) HP:0001653
8 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677
9 scoliosis 32 occasional (7.5%) HP:0002650
10 abdominal aortic aneurysm 32 occasional (7.5%) HP:0005112
11 dural ectasia 32 occasional (7.5%) HP:0100775

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 10

Search Clinical Trials , NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 10

Genetic Tests for Aortic Aneurysm, Familial Thoracic 10

Genetic tests related to Aortic Aneurysm, Familial Thoracic 10:

# Genetic test Affiliating Genes
1 Aortic Aneurysm, Familial Thoracic 10 29 LOX

Anatomical Context for Aortic Aneurysm, Familial Thoracic 10

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 10:

41
Smooth Muscle, Skin

Publications for Aortic Aneurysm, Familial Thoracic 10

Variations for Aortic Aneurysm, Familial Thoracic 10

UniProtKB/Swiss-Prot genetic disease variations for Aortic Aneurysm, Familial Thoracic 10:

75
# Symbol AA change Variation ID SNP ID
1 LOX p.Gln267Pro VAR_077537 rs886040967
2 LOX p.Ser280Ile VAR_077538 rs886040965
3 LOX p.Met298Arg VAR_077539 rs876657852
4 LOX p.Ser348Arg VAR_077540

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LOX NM_002317.6(LOX): c.893T> G (p.Met298Arg) single nucleotide variant Likely pathogenic rs876657852 GRCh38 Chromosome 5, 122074155: 122074155
2 LOX NM_002317.6(LOX): c.893T> G (p.Met298Arg) single nucleotide variant Likely pathogenic rs876657852 GRCh37 Chromosome 5, 121409850: 121409850
3 LOX NM_002317.6(LOX): c.839G> T (p.Ser280Ile) single nucleotide variant Pathogenic rs886040965 GRCh38 Chromosome 5, 122075443: 122075443
4 LOX NM_002317.6(LOX): c.839G> T (p.Ser280Ile) single nucleotide variant Pathogenic rs886040965 GRCh37 Chromosome 5, 121411138: 121411138
5 LOX NM_002317.6(LOX): c.125G> A (p.Trp42Ter) single nucleotide variant Pathogenic rs886040966 GRCh38 Chromosome 5, 122077861: 122077861
6 LOX NM_002317.6(LOX): c.125G> A (p.Trp42Ter) single nucleotide variant Pathogenic rs886040966 GRCh37 Chromosome 5, 121413556: 121413556
7 LOX NM_002317.6(LOX): c.800A> C (p.Gln267Pro) single nucleotide variant Pathogenic rs886040967 GRCh37 Chromosome 5, 121411177: 121411177
8 LOX NM_002317.6(LOX): c.800A> C (p.Gln267Pro) single nucleotide variant Pathogenic rs886040967 GRCh38 Chromosome 5, 122075482: 122075482

Expression for Aortic Aneurysm, Familial Thoracic 10

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 10.

Pathways for Aortic Aneurysm, Familial Thoracic 10

GO Terms for Aortic Aneurysm, Familial Thoracic 10

Sources for Aortic Aneurysm, Familial Thoracic 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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