Loeys-Dietz syndrome

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.



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Narrow down the case reports



Total: 114 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 19551629
 A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.
Onrat ST, Emmiler M, Sivaci Y, Soylemez Z, Ozgoz A, Imirzalioglu N.
Genet Mol Res. 2009;8(2):426-34.
Epicanthus Micrognathia
c|SUB|C|677|T;RS#:1801133 c|SUB|G|-455|A
Aorta Connective Tissue Diseases Homo sapiens Male Phenotype Young Adult
2
(57.0%)		 22734312
 Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
Kilic E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroglu K.
Turk J Pediatr. 2012;54(2):198-202.
Retrognathia Arachnodactyly
TGFBR2
p|SUB|R|528|C;RS#:104893810 p|SUB|R|537|P
Aneurysm Aorta Females Homo sapiens Loeys-Dietz Syndrome Mutation Pathological Dilatation Protein-Serine-Threonine Kinases Torsion Abnormality Transforming Growth Factor beta Receptors Vascular Diseases
3
(52.6%)		 20681224
 A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K.
Genet Couns. 2010;21(2):225-32.
Retrognathia Hallux valgus
TGFBR1 TGFBR2
Aorta Child, Preschool Congenital Hand Deformities Craniosynostosis Homo sapiens Loeys-Dietz Syndrome Male Missense Mutation Pathological Dilatation Protein-Serine-Threonine Kinases Transforming Growth Factor beta Receptors
4
(50.0%)		 27476563
 [Two Surgical Cases of Loeys-Dietz Syndrome in Childhood].
Sugawara M, Oguma F, Hirahara H.
Kyobu Geka. 2016;69(9):750-4.
Retrognathia Talipes equinovarus
TGFBR2
Aorta Aortic Aneurysm Aortic Valve Insufficiency Child Child, Preschool Females Homo sapiens Infant Loeys-Dietz Syndrome Male X-Ray Computed Tomography
5
(42.7%)		 21225386
 Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy.
Kuisle AM, Gauguet S, Karlin LI, Dauber A, McCann ME.
Can J Anaesth. 2011;58(4):392-5.
Retrognathia
Adrenoleukodystrophy Child Homo sapiens Loeys-Dietz Syndrome Male Postoperative Complications Spondylolisthesis
6
(41.7%)		 18978651
 Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.
Ades LC.
Clin Dysmorphol. 2008;17(4):243-8.
Open mouth Dolichocephaly
TGFBR1 TGFBR2
Adult Aortic Aneurysm Child Child, Preschool Craniofacial Abnormalities Face Females Follow-Up Studies Homo sapiens Male Maxillofacial Development Mutation Protein-Serine-Threonine Kinases Receptor, Transforming Growth Factor-beta Type I Syndrome Transforming Growth Factor beta Receptors
7
(40.1%)		 25163805
(4236574)
 Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
Ritelli M, Chiarelli N, Dordoni C, Quinzani S, Venturini M, Maroldi R, Calzavara-Pinton P, Colombi M.
BMC Med Genet. 2014;15:91.
High palate Scoliosis
SMAD3 TGFB1 TGFB2 TGFBR1 TGFBR2
c|SUB|G|839-1|A p|FS|G|280|D|41 rs1553292105 rs376159002
Adult Codon, Nonsense Females Haploinsufficiency Homo sapiens Loeys-Dietz Syndrome Middle Aged Point Mutation RNA Splicing Vascular Diseases
8
(37.5%)		 24440784
 Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.
Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D.
Gene. 2014;538(1):69-73.
Retinal degeneration Arachnodactyly Scoliosis
FBN1 TGFB1 TGFB2
Chromosome Breakage Females Gene Deletion Homo sapiens Loeys-Dietz Syndrome
8
(37.5%)		 19875893
 A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.
Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur Ch, Badziag N, Matuszewska K, Matyas G, Latos-Bielenska A.
J Appl Genet. 2009;50(4):405-10.
Hypertelorism Arachnodactyly Scoliosis
TGFBR2
c|SUB|C|1582|T;RS#:104893810 p|SUB|R|528|C;RS#:104893810
Base Sequence Child, Preschool Craniofacial Abnormalities DNA Females Heterozygote Homo sapiens Loeys-Dietz Syndrome Missense Mutation Phenotype Protein-Serine-Threonine Kinases Receptor, Transforming Growth Factor-beta Type I Transforming Growth Factor beta Receptors
10
(37.1%)		 24194458
 Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
Chung BH, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D.
Am J Med Genet A. 2014;164A(2):461-6.
Hypertelorism Brachydactyly Absent distal phalanges
FBN1 TGFBR2
Congenital Hand Deformities Cultured Cells DNA Mutational Analysis Dermis Fibrillins Fibroblasts Homo sapiens Infant, Newborn Loeys-Dietz Syndrome Male Microfilament Proteins Phenotype Protein-Serine-Threonine Kinases Transforming Growth Factor beta Receptors
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0001643 Patent ductus arteriosus Very frequent (99-80%)
HP:0001763 Pes planus Very frequent (99-80%)
HP:0002617 Dilatation Very frequent (99-80%)
HP:0002647 Aortic dissection Very frequent (99-80%)
HP:0004942 Aortic aneurysm Very frequent (99-80%)
HP:0005116 Arterial tortuosity Very frequent (99-80%)
HP:0005294 Arterial dissection Very frequent (99-80%)
HP:0100718 Uterine rupture Very frequent (99-80%)
HP:0000098 Tall stature Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000592 Blue sclerae Frequent (79-30%)
HP:0000987 Atypical scarring of skin Frequent (79-30%)
HP:0001065 Striae distensae Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000768 Pectus carinatum Occasional (29-5%)
HP:0000963 Thin skin Occasional (29-5%)
HP:0000978 Bruising susceptibility Occasional (29-5%)
HP:0001373 Joint dislocation Occasional (29-5%)
HP:0001695 Cardiac arrest Occasional (29-5%)
HP:0001892 Abnormal bleeding Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 42

HPO ID Term # of case reports
HP:0004942 Aortic aneurysm 16
HP:0002647 Aortic dissection 11
HP:0005116 Arterial tortuosity 9
HP:0000316 Hypertelorism 8
HP:0012727 Thoracic aortic aneurysm 5
HP:0002616 Aortic root aneurysm 3
HP:0002617 Dilatation 3
HP:0002650 Scoliosis 3
HP:0000767 Pectus excavatum 2
HP:0002138 Subarachnoid hemorrhage 2
HP:0100718 Uterine rupture 2
HP:0000541 Retinal detachment 1
HP:0000545 Myopia 1
HP:0001083 Ectopia lentis 1
HP:0001166 Arachnodactyly 1
HP:0001249 Intellectual disability 1
HP:0001298 Encephalopathy 1
HP:0001647 Bicuspid aortic valve 1
HP:0001659 Aortic regurgitation 1
HP:0002105 Hemoptysis 1
HP:0002385 Paraparesis 1
HP:0002583 Colitis 1
HP:0002870 Obstructive sleep apnea 1
HP:0002958 Immune dysregulation 1
HP:0003388 Easy fatigability 1
HP:0004933 Ascending aortic dissection 1
HP:0004937 Pulmonary artery aneurysm 1
HP:0004947 Arteriovenous fistula 1
HP:0004955 Generalized arterial tortuosity 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0005113 Aortic arch aneurysm 1
HP:0005294 Arterial dissection 1
HP:0006702 Coronary artery dissection 1
HP:0008443 Spinal deformities 1
HP:0011611 Interrupted aortic arch 1
HP:0011951 Aspiration pneumonia 1
HP:0025615 Abscess 1
HP:0030731 Carcinoma 1
HP:0030882 Coronary artery aneurysm 1
HP:0031625 Pseudoaneurysm 1
HP:0100279 Ulcerative colitis 1
HP:0100584 Endocarditis 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
TGFBR1 transforming growth factor beta receptor 1 7046
TGFBR2 transforming growth factor beta receptor 2 7048