AAT10
MCID: ART134
MIFTS: 26

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 57 72 29 6
Aortic Aneurysm, Thoracic, with or Without Aortic Dissection 57 72
Aat10 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
aortic aneurysm, familial thoracic 10:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aortic Aneurysm, Familial Thoracic 10

UniProtKB/Swiss-Prot : 72 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 and aortic aneurysm. An important gene associated with Aortic Aneurysm, Familial Thoracic 10 is LOX (Lysyl Oxidase). Affiliated tissues include smooth muscle, and related phenotypes are scoliosis and high palate

More information from OMIM: 617168 PS607086

Related Diseases for Aortic Aneurysm, Familial Thoracic 10

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 10

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 10:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 high palate 31 occasional (7.5%) HP:0000218
3 myopia 31 occasional (7.5%) HP:0000545
4 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
5 mitral regurgitation 31 occasional (7.5%) HP:0001653
6 disproportionate tall stature 31 occasional (7.5%) HP:0001519
7 dental crowding 31 occasional (7.5%) HP:0000678
8 joint hypermobility 31 occasional (7.5%) HP:0001382
9 dural ectasia 31 occasional (7.5%) HP:0100775
10 coronary artery atherosclerosis 31 occasional (7.5%) HP:0001677
11 abdominal aortic aneurysm 31 occasional (7.5%) HP:0005112
12 pectus excavatum 31 very rare (1%) HP:0000767
13 aortic arch aneurysm 31 very rare (1%) HP:0005113
14 aortic root aneurysm 31 HP:0002616

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
aortic root aneurysm
aneurysm of ascending aorta
fusiform aneurysm involving aortic root and ascending aorta
dissection and/or rupture of aortic aneurysm (in some patients)
aortic arch aneurysm (rare)
more
Growth Height:
tall stature (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (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)

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)

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 (Updated 20-May-2021)

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:

40
Smooth Muscle

Publications for Aortic Aneurysm, Familial Thoracic 10

Articles related to Aortic Aneurysm, Familial Thoracic 10:

# Title Authors PMID Year
1
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 57 6
27432961 2016
2
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 57 6
26838787 2016
3
Impacts of climatic warming on cropping system borders of China and potential adaptation strategies for regional agriculture development. 61
33039884 2021
4
Influence of climate change and mechanized harvesting on maize (Zea mays L.) planting and northern limits in northeast China. 61
33336788 2020
5
A comparison of two time intervals for the ausculated acceleration test. 61
11370697 2001
6
Developing microsatellites when they are rare: trinucleotide repeat loci in the northern mockingbird Mimus polyglottos. 61
9394466 1997

Variations for Aortic Aneurysm, Familial Thoracic 10

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOX , SRFBP1 NM_002317.7(LOX):c.839G>T (p.Ser280Ile) SNV Pathogenic 267291 rs886040965 GRCh37: 5:121411138-121411138
GRCh38: 5:122075443-122075443
2 LOX , SRFBP1 NM_002317.7(LOX):c.893T>G (p.Met298Arg) SNV Pathogenic 228806 rs876657852 GRCh37: 5:121409850-121409850
GRCh38: 5:122074155-122074155
3 LOX NM_002317.7(LOX):c.125G>A (p.Trp42Ter) SNV Pathogenic 267292 rs886040966 GRCh37: 5:121413556-121413556
GRCh38: 5:122077861-122077861
4 LOX , SRFBP1 NM_002317.7(LOX):c.800A>C (p.Gln267Pro) SNV Pathogenic 267293 rs886040967 GRCh37: 5:121411177-121411177
GRCh38: 5:122075482-122075482
5 LOX , SRFBP1 NM_002317.7(LOX):c.1009C>T (p.Arg337Ter) SNV Likely pathogenic 974875 GRCh37: 5:121409734-121409734
GRCh38: 5:122074039-122074039
6 LOX NM_002317.7(LOX):c.132G>C (p.Gln44His) SNV Uncertain significance 992529 GRCh37: 5:121413549-121413549
GRCh38: 5:122077854-122077854
7 LOX , SRFBP1 NM_002317.7(LOX):c.878+12G>T SNV Uncertain significance 931970 GRCh37: 5:121411087-121411087
GRCh38: 5:122075392-122075392
8 LOX NM_002317.7(LOX):c.476C>A (p.Pro159Gln) SNV Benign 445585 rs41407546 GRCh37: 5:121413205-121413205
GRCh38: 5:122077510-122077510
9 LOX NM_002317.7(LOX):c.204C>T (p.Arg68=) SNV Benign 785135 rs201057539 GRCh37: 5:121413477-121413477
GRCh38: 5:122077782-122077782
10 LOX NM_002317.7(LOX):c.545C>G (p.Pro182Arg) SNV not provided 973085 GRCh37: 5:121413136-121413136
GRCh38: 5:122077441-122077441

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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