ORPHA:3342
Arterial tortuosity syndrome
Synonyms: ATS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arterial tortuosity syndrome | ATS |
| fr | Syndrome de tortuosité artérielle | ATS · Syndrome de flexuosité artérielle |
| de | Arterial-Tortuosity-Syndrom | ATS · Arterien, geschlängelte |
| es | Síndrome de tortuosidad arterial | = en |
| it | Sindrome da tortuosità delle arterie | = en |
| nl | Arteriële tortuositeitsyndroom | = en |
| pt | Síndrome de tortuosidade arterial | = en |
| pl | Zespół krętości tętnic | = en |
| cs | Syndrom arteriální tortuozity | = en |
| uk | Синдром звивистості артерій | = en |
| zh | 动脉迂曲综合征 | = en |
| tr | Arteriyel kıvrılma sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208050 | E | validated | |
| ICD-10 | Q27.8 | NTBT | attributed | validated |
| ICD-11 | LD28.Y | NTBT | index | validated |
| MONDO | 0008818 | E | validated | |
| MeSH | C565942 | E | validated | |
| UMLS | C1859726 | E | validated | |
| GARD | 774 | E | validated | |
| MedDRA | 10080250 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:209Cutis laxa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A10 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13444 | ENSG00000197496 | 606145 | 20q13.12 | solute carrier family 2 member 10 | 16550171[PMID]_17935213[PMID]_20547159[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 102 cases | Worldwide | Case(s) | Validated | 29323665[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29323665[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
61 annotations · validated 2017-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005344 | Abnormality of the carotid arteries | |
| HP:0004942 | Aortic aneurysm | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0100545 | Arterial stenosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0002617 | Dilatation | |
| HP:0100585 | Telangiectasia of the skin | |
| Frequent (79-30%) | ||
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0002647 | Aortic dissection | |
| HP:0001363 | Craniosynostosis | |
| HP:0012378 | Fatigue | |
| HP:0100541 | Femoral hernia | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0009099 | Median cleft palate | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | |
| HP:0000581 | Blepharophimosis | |
| HP:0001695 | Cardiac arrest | |
| HP:0006543 | Cardiorespiratory arrest | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002094 | Dyspnea | |
| HP:0100633 | Esophagitis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001263 | Global developmental delay | |
| HP:0002036 | Hiatus hernia | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0000822 | Hypertension | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000563 | Keratoconus | |
| HP:0001119 | Keratoglobus | |
| HP:0011302 | Long palm | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0001658 | Myocardial infarction | |
| HP:0012819 | Myocarditis | |
| HP:0000545 | Myopia | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001582 | Redundant skin | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0001838 | Rocker bottom foot | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 16550171[PMID]_17935213[PMID]_20547159[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3342
- This record as JSON: /data/d/3342.json