Arterial tortuosity syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ARTERIAL TORTUOSITY
ATS
Number of Symptoms 90
OrphanetNr: 3342
OMIM Id: 208050
ICD-10: I73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 80 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Rare disease with thoracic aortic aneurysm and aortic dissection
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000978) Bruising susceptibility 123 / 7739
2
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
3
 (HPO:0000563) Keratoconus rare [HPO:skoehler] 25 / 7739
4
 (HPO:0100692) Increased corneal curvature Occasional [Orphanet] 13 / 7739
5
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
6
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
7
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
8
 (HPO:0001977) Abnormal thrombosis 11 / 7739
9
 (HPO:0001714) Ventricular hypertrophy 20 / 7739
10
 (HPO:0001659) Aortic regurgitation 36 / 7739
11
 (HPO:0001650) Aortic valve stenosis 49 / 7739
12
 (HPO:0001637) Abnormality of the myocardium Occasional [Orphanet] 76 / 7739
13
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
14
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
15
 (MedDRA:10003143) Arterial aneurysm NOS 4 / 7739
16
 (HPO:0100545) Arterial stenosis Very frequent [Orphanet] 22 / 7739
17
 (HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
18
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
19
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
20
 (HPO:0001635) Congestive heart failure Very frequent [Orphanet] 232 / 7739
21
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
22
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] rare [HPO:skoehler] 990 / 7739
23
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
 (HPO:0010547) Muscle flaccidity 466 / 7739
25
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
26
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
27
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
28
 (HPO:0001166) Arachnodactyly 62 / 7739
29
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
30
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
31
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
32
 (HPO:0000347) Micrognathia 426 / 7739
33
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
34
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
35
 (HPO:0000768) Pectus carinatum 136 / 7739
36
 (HPO:0000767) Pectus excavatum 244 / 7739
37
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
38
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
39
 (HPO:0001388) Joint laxity 117 / 7739
40
 (HPO:0002036) Hiatus hernia 24 / 7739
41
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
42
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
43
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
44
 (HPO:0001537) Umbilical hernia 206 / 7739
45
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
46
 (HPO:0000023) Inguinal hernia 181 / 7739
47
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
48
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
49
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
50
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
51
 (HPO:0000218) High palate 356 / 7739
52
 (HPO:0000343) Long philtrum 262 / 7739
53
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
54
 (HPO:0000444) Convex nasal ridge 87 / 7739
55
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
56
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
57
 (HPO:0000951) Abnormality of the skin Frequent [Orphanet] 147 / 7739
58
 (HPO:0000973) Cutis laxa 43 / 7739
59
 (HPO:0001027) Soft, doughy skin 3 / 7739
60
 (HPO:0007495) Prematurely aged appearance Occasional [Orphanet] 44 / 7739
61
 (HPO:0000974) Hyperextensible skin Frequent [Orphanet] 59 / 7739
62
 (HPO:0001582) Redundant skin Occasional [Orphanet] 51 / 7739
63
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
64
 (HPO:0100585) Telangiectasia of the skin Very frequent [Orphanet] 66 / 7739
65
 (HPO:0007421) Telangiectases of the cheeks 2 / 7739
66
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
67
 (HPO:0002616) Aortic root dilatation Very frequent [Orphanet] 27 / 7739
68
 (HPO:0002647) Aortic dissection Frequent [Orphanet] 14 / 7739
69
 (HPO:0006687) Aortic tortuosity 1 / 7739
70
 (HPO:0005344) Abnormality of the carotid arteries Very frequent [Orphanet] 6 / 7739
71
 (HPO:0005116) Arterial tortuosity 4 / 7739
72
 (HPO:0004955) Generalized arterial tortuosity 7 / 7739
73
 (HPO:0002617) Aneurysm Very frequent [Orphanet] 34 / 7739
74
 (HPO:0001371) Flexion contracture 220 / 7739
75
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
76
 (HPO:0003577) Congenital onset 133 / 7739
77
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
78
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
79
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
80
 (MedDRA:10013538) Diverticulitis 2 / 7739
81
 (OMIM) Archnodactyly 1 / 7739
82
 (OMIM) Arterial vessels show disruption of the elastic fibers of the tunica media 1 / 7739
83
 (OMIM) Arterial vessels show fragmentation of the internal elastic membrane 1 / 7739
84
 (OMIM) Bowel necrosis due to thrombosis 1 / 7739
85
 (OMIM) Elongated arteries (large and medium-sized arteries including aorta) 1 / 7739
86
 (OMIM) Gastric hernia 1 / 7739
87
 (OMIM) Hyperextensibility of the skin 1 / 7739
88
 (OMIM) Increased risk of thrombosis 1 / 7739
89
 (OMIM) No increased bruisability 1 / 7739
90
 (OMIM) Sliding hernia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM From Ankara, Turkey, Ertugrel (1967) described a 10-year-old girl with generalized tortuosity and elongation of all major arteries including the aorta. Telangiectases of the cheeks, high palate, aortic regurgitation and histologic fragmentation of the internal elastic membrane of ...
Molecular genetics OMIM Coucke et al. (2006) narrowed the arterial tortuosity syndrome candidate region on chromosome 20q13.1 to a 1.2-Mb region containing 7 genes. Mutations in 1 of these genes, SLC2A10 (606145), were identified in 6 ATS families. Deficiency of the ...