AAT10
MCID: ART134
MIFTS: 23

Aortic Aneurysm, Familial Thoracic 10 (AAT10)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 10

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 10:

Name: Aortic Aneurysm, Familial Thoracic 10 58 76 30 6
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 58 76
Aat10 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
aortic aneurysm, familial thoracic 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 10

UniProtKB/Swiss-Prot : 76 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 scoliosis

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 11.9

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 10

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 10:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 high palate 33 occasional (7.5%) HP:0000218
2 scoliosis 33 occasional (7.5%) HP:0002650
3 myopia 33 occasional (7.5%) HP:0000545
4 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
5 mitral regurgitation 33 occasional (7.5%) HP:0001653
6 disproportionate tall stature 33 occasional (7.5%) HP:0001519
7 dental crowding 33 occasional (7.5%) HP:0000678
8 joint hypermobility 33 occasional (7.5%) HP:0001382
9 dural ectasia 33 occasional (7.5%) HP:0100775
10 abdominal aortic aneurysm 33 occasional (7.5%) HP:0005112
11 coronary artery atherosclerosis 33 occasional (7.5%) HP:0001677
12 aortic arch aneurysm 33 very rare (1%) HP:0005113
13 aortic root aneurysm 33 HP:0002616

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis (in some patients)

Head And Neck Mouth:
high-arched palate (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)

Head And Neck Teeth:
dental crowding (rare)

Growth Height:
tall stature (in some patients)

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

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)

Abdomen External Features:
abdominal hernia (rare)

Clinical features from OMIM:

617168

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 30 LOX

Anatomical Context for Aortic Aneurysm, Familial Thoracic 10

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

42
Smooth Muscle, Skin

Publications for Aortic Aneurysm, Familial Thoracic 10

Articles related to Aortic Aneurysm, Familial Thoracic 10:

# Title Authors Year
1
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. ( 27432961 )
2016
2
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. ( 26838787 )
2016

Variations for Aortic Aneurysm, Familial Thoracic 10

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

76
# 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 Pathogenic/Likely pathogenic rs876657852 GRCh38 Chromosome 5, 122074155: 122074155
2 LOX NM_002317.6(LOX): c.893T> G (p.Met298Arg) single nucleotide variant Pathogenic/Likely pathogenic rs876657852 GRCh37 Chromosome 5, 121409850: 121409850
3 LOX NM_002317.5(LOX): c.839G> T (p.Ser280Ile) single nucleotide variant Pathogenic rs886040965 GRCh38 Chromosome 5, 122075443: 122075443
4 LOX NM_002317.5(LOX): c.839G> T (p.Ser280Ile) single nucleotide variant Pathogenic rs886040965 GRCh37 Chromosome 5, 121411138: 121411138
5 LOX NM_002317.7(LOX): c.125G> A (p.Trp42Ter) single nucleotide variant Likely pathogenic rs886040966 GRCh38 Chromosome 5, 122077861: 122077861
6 LOX NM_002317.7(LOX): c.125G> A (p.Trp42Ter) single nucleotide variant Likely pathogenic rs886040966 GRCh37 Chromosome 5, 121413556: 121413556
7 LOX NM_002317.5(LOX): c.800A> C (p.Gln267Pro) single nucleotide variant Pathogenic rs886040967 GRCh37 Chromosome 5, 121411177: 121411177
8 LOX NM_002317.5(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

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10 dbSNP
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35 ICD10 via Orphanet
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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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