|
MCID: ART001
MIFTS: 53
|
Arterial Tortuosity Syndrome
Categories:
Genetic diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
|
|
|
|
MalaCards integrated aliases for Arterial Tortuosity Syndrome:
Characteristics:Orphanet epidemiological data:59
arterial tortuosity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth increased risk of early death HPO:32
arterial tortuosity syndrome:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Skin diseases
ICD10:
34
Orphanet: 59
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
|
|
NIH Rare Diseases
:
53
Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include:
Joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures)
Soft and stretchable skin
Long, slender fingers and toes (arachnodactyly)
Curvature of the spine (scoliosis)
Sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
Protrusion of organs through gaps in muscles (hernias)
Elongation of the intestines or pouches called diverticula in the intestinal walls
People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). Arterial tortuosity syndrome is caused by alterations (mutations) in the SLC2A10 gene and is inherited in an autosomal recessive fashion. Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best management of the disorder.
MalaCards based summary : Arterial Tortuosity Syndrome, also known as arterial tortuosity, is related to loeys-dietz syndrome and aneurysm. An important gene associated with Arterial Tortuosity Syndrome is SLC2A10 (Solute Carrier Family 2 Member 10), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, heart and eye, and related phenotypes are macrocephaly and malar flattening Disease Ontology : 12 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. Genetics Home Reference : 25 Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. UniProtKB/Swiss-Prot : 75 Arterial tortuosity syndrome: An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. Wikipedia : 76 Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by... more...
Description from OMIM:
208050
GeneReviews:
NBK253404
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:208050Human phenotypes related to Arterial Tortuosity Syndrome:59 32 (show top 50) (show all 86)
MGI Mouse Phenotypes related to Arterial Tortuosity Syndrome:46
|
Interventional clinical trials:
|
MalaCards organs/tissues related to Arterial Tortuosity Syndrome:41
Skin,
Heart,
Eye,
Bone
|
Articles related to Arterial Tortuosity Syndrome:(show top 50) (show all 56)
|
Genes related to Arterial Tortuosity Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Arterial Tortuosity Syndrome:75
ClinVar genetic disease variations for Arterial Tortuosity Syndrome:6
|
|
Search
GEO
for disease gene expression data for Arterial Tortuosity Syndrome.
|
Pathways related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
|
Cellular components related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Arterial Tortuosity Syndrome according to GeneCards Suite gene sharing:
|
|