Loeys-dietz Syndrome 1; Lds1
Description
The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014).
Clinical Features
Top most frequent phenotypes and symptoms related to Loeys-dietz Syndrome 1; Lds1
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Micrognathia
- Cleft palate
- Ptosis
- High palate
- Myopia
- Downslanted palpebral fissures
And another 75 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Loeys-dietz Syndrome 1; Lds1 Is also known as aat5, aortic aneurysm, familial thoracic 5, loeys-dietz aortic aneurysm syndrome, furlong syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Loeys-dietz Syndrome 1; Lds1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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NGS Aortic Dysfunction or Dilation and Related Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
Genes
100 % |
NGS Connective Tissue Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Loeys-Dietz syndrome type 1A.
By Center for Human Genetics, Inc (United States).
TGFBR1
Specificity
100 %
Genes
100 % |
Thoracic Aortic Aneurysms and Aortic Dissections (TGFBR1/2).
By Center for Human Genetics, Inc (United States).
TGFBR1, TGFBR2
Specificity
50 %
Genes
100 % |
Loeys-Dietz Syndrome (TGFßR1, TGFßR2, SMAD3, and TGFß2).
By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, SMAD3
Specificity
25 %
Genes
100 % |
Familial Aortic Aneurysms.
By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
13 %
Genes
100 % |
Connective Tissue Disorders 22-gene panel.
By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
5 %
Genes
100 % |
Loeys-Dietz Syndrome.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
TGFBR1, TGFBR2
Specificity
50 %
Genes
100 % |
You can get up to 171 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19 LEBER CONGENITAL AMAUROSIS 11; LCA11 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH