LDS6
MCID: LYS031
MIFTS: 24

Loeys-Dietz Syndrome 6 (LDS6)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Loeys-Dietz Syndrome 6

MalaCards integrated aliases for Loeys-Dietz Syndrome 6:

Name: Loeys-Dietz Syndrome 6 57 73 28 5
Lds6 57 73
Loeys-Dietz Syndrome, Type 6 38

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Loeys-Dietz Syndrome 6

OMIM®: 57 Loeys-Dietz syndrome-6 (LDS6) is characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings. Most patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported (Granadillo et al., 2018; Cannaerts et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of LDS, see LDS1 (609192). (619656) (Updated 08-Dec-2022)

MalaCards based summary: Loeys-Dietz Syndrome 6, is also known as lds6. An important gene associated with Loeys-Dietz Syndrome 6 is SMAD2 (SMAD Family Member 2). Related phenotypes are scoliosis and high palate

UniProtKB/Swiss-Prot: 73 A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Most LDS6 patients have thoracic aortic aneurysm involving the ascending aorta and/or aortic root, but cerebral and iliac arteries can be affected, and abdominal aortic aneurysm has been observed. Arterial tortuosity involving cerebral vessels, the aorta, and/or iliac arteries has also been reported. LDS6 inheritance is autosomal dominant.

Related Diseases for Loeys-Dietz Syndrome 6

Symptoms & Phenotypes for Loeys-Dietz Syndrome 6

Human phenotypes related to Loeys-Dietz Syndrome 6:

30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Very rare (1%) HP:0002650
2 high palate 30 Very rare (1%) HP:0000218
3 pes planus 30 Very rare (1%) HP:0001763
4 arthralgia 30 Very rare (1%) HP:0002829
5 striae distensae 30 Very rare (1%) HP:0001065
6 arachnodactyly 30 Very rare (1%) HP:0001166
7 disproportionate tall stature 30 Very rare (1%) HP:0001519
8 chronic fatigue 30 Very rare (1%) HP:0012432
9 long face 30 Very rare (1%) HP:0000276
10 varicose veins 30 Very rare (1%) HP:0002619
11 hip osteoarthritis 30 Very rare (1%) HP:0008843
12 dilatation of the cerebral artery 30 Very rare (1%) HP:0004944
13 carotid artery dilatation 30 Very rare (1%) HP:0012163
14 intervertebral disc degeneration 30 Very rare (1%) HP:0008419
15 ventricular hypertrophy 30 Very rare (1%) HP:0001714
16 carotid artery dissection 30 Very rare (1%) HP:0012158
17 thoracic aortic aneurysm 30 Very rare (1%) HP:0012727
18 knee osteoarthritis 30 Very rare (1%) HP:0005086
19 abdominal aortic aneurysm 30 Very rare (1%) HP:0005112
20 vertebral artery aneurysm 30 Very rare (1%) HP:0034179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
intervertebral disc degeneration

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Skeletal Limbs:
genu valgum
long arm span
positive wrist and thumb sign

Skeletal:
joint hypermobility
osteoarthritis

Head And Neck Head:
dolichocephaly

Skin Nails Hair Skin:
varicose veins
easy bruising
striae

Head And Neck Mouth:
broad uvula
high-arched palate

Chest Diaphragm:
diaphragmatic hernia

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Respiratory Lung:
spontaneous pneumothorax (rare)

Muscle Soft Tissue:
inguinal hernia
abdominal wall hernia

Skeletal Feet:
pes planus
long toes

Head And Neck Face:
retrognathia
midface hypoplasia

Neurologic Central Nervous System:
dural ectasia
migraine
transient ischemic attack (uncommon)

Skeletal Skull:
dolichocephaly

Growth Height:
tall stature

Abdomen Gastrointestinal:
hiatal hernia
diverticulosis

Cardiovascular Heart:
bicuspid aortic valve (rare)
aortic valve prolapse or insufficiency
mitral valve prolapse or insufficiency
tricuspid valve prolapse or insufficiency
pulmonary valve prolapse or insufficiency

Cardiovascular Vascular:
abdominal aortic aneurysm (uncommon)
thoracic aortic aneurysm (primarily aortic root and/or ascending aorta)
tortuosity of aorta
arterial tortuosity (cerebral, carotid, iliac arteries)
arterial aneurysm (cerebral, carotid, coronary, iliac arteries)
more
Skeletal Hands:
long slender fingers

Clinical features from OMIM®:

619656 (Updated 08-Dec-2022)

Drugs & Therapeutics for Loeys-Dietz Syndrome 6

Search Clinical Trials, NIH Clinical Center for Loeys-Dietz Syndrome 6

Genetic Tests for Loeys-Dietz Syndrome 6

Genetic tests related to Loeys-Dietz Syndrome 6:

# Genetic test Affiliating Genes
1 Loeys-Dietz Syndrome 6 28 SMAD2

Anatomical Context for Loeys-Dietz Syndrome 6

Publications for Loeys-Dietz Syndrome 6

Articles related to Loeys-Dietz Syndrome 6:

# Title Authors PMID Year
1
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. 57 5
29967133 2019
2
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. 57 5
30157302 2018
3
Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms. 57 5
28283438 2017
4
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. 57 5
26247899 2015
5
Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome. 62
36138598 2022
6
Aortic dilation in pediatric patients. 62
26070999 2015
7
Valve-sparing aortic root reconstruction in children, teenagers, and young adults. 62
22748646 2012

Variations for Loeys-Dietz Syndrome 6

ClinVar genetic disease variations for Loeys-Dietz Syndrome 6:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD2 NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) SNV Pathogenic
1327530 GRCh37: 18:45368256-45368256
GRCh38: 18:47841885-47841885
2 SMAD2 NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) SNV Pathogenic
1327531 GRCh37: 18:45368233-45368233
GRCh38: 18:47841862-47841862
3 SMAD2 NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) SNV Pathogenic
1327533 GRCh37: 18:45371828-45371828
GRCh38: 18:47845457-47845457
4 SMAD2 NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) SNV Pathogenic
1327534 GRCh37: 18:45375010-45375010
GRCh38: 18:47848639-47848639
5 SMAD2 NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) DUP Pathogenic
1327537 GRCh37: 18:45394736-45394737
GRCh38: 18:47868365-47868366
6 SMAD2 NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) SNV Pathogenic
1327538 GRCh37: 18:45372087-45372087
GRCh38: 18:47845716-47845716
7 SMAD2 NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) SNV Likely Pathogenic
1685446 GRCh37: 18:45374935-45374935
GRCh38: 18:47848564-47848564
8 SMAD2 NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg) SNV Likely Pathogenic
1722766 GRCh37: 18:45372110-45372110
GRCh38: 18:47845739-47845739
9 SMAD2 NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) SNV Uncertain Significance
1521943 GRCh37: 18:45368218-45368218
GRCh38: 18:47841847-47841847

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 6:

73
# Symbol AA change Variation ID SNP ID
1 SMAD2 p.Gly457Arg VAR_086582

Expression for Loeys-Dietz Syndrome 6

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 6.

Pathways for Loeys-Dietz Syndrome 6

GO Terms for Loeys-Dietz Syndrome 6

Sources for Loeys-Dietz Syndrome 6

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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