Loeys-Dietz Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Skin diseases Immune diseases

See all MalaCards categories (disease lists)

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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.

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Related Diseases for Loeys-Dietz Syndrome 6

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5	Loeys-Dietz Syndrome 6

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 6

Human phenotypes related to Loeys-Dietz Syndrome 6:

³⁰ (show all 20)

#	Description	HPO 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)

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Drugs & Therapeutics for Loeys-Dietz Syndrome 6

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

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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

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Anatomical Context for Loeys-Dietz Syndrome 6

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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	Cannaerts E...Loeys B	29967133	2019
2	Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. ⁵⁷ ⁵	Granadillo JL...Shinawi M	30157302	2018
3	Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms. ⁵⁷ ⁵	Zhang W...Zhou W	28283438	2017
4	SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. ⁵⁷ ⁵	Micha D...van Dijk FS	26247899	2015
5	Cleft Palate and Aortic Dilatation as Clues for Loeys-Dietz Syndrome. ⁶²	Zaza P...Maffei G	36138598	2022
6	Aortic dilation in pediatric patients. ⁶²	Zarate YA...Collins RT	26070999	2015
7	Valve-sparing aortic root reconstruction in children, teenagers, and young adults. ⁶²	Tweddell JS...Mitchell ME	22748646	2012

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Genes for Loeys-Dietz Syndrome 6

Genes related to Loeys-Dietz Syndrome 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SMAD2	SMAD Family Member 2	Protein Coding	1333.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	26247899 28283438 29967133 (more) 30157302

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Variations for Loeys-Dietz Syndrome 6

ClinVar genetic disease variations for Loeys-Dietz Syndrome 6:

⁵

#	Gene	Name	Type	Significance	ClinVarId	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

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Expression for Loeys-Dietz Syndrome 6

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

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Pathways for Loeys-Dietz Syndrome 6

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GO Terms for Loeys-Dietz Syndrome 6

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Sources for Loeys-Dietz Syndrome 6

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

Loeys-Dietz Syndrome 6 (LDS6)

Aliases & Classifications for Loeys-Dietz Syndrome 6

MalaCards integrated aliases for Loeys-Dietz Syndrome 6:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 6

Related Diseases for Loeys-Dietz Syndrome 6

Diseases in the Loeys-Dietz Syndrome family:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 6

Human phenotypes related to Loeys-Dietz Syndrome 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Loeys-Dietz Syndrome 6

Genetic Tests for Loeys-Dietz Syndrome 6

Genetic tests related to Loeys-Dietz Syndrome 6:

Anatomical Context for Loeys-Dietz Syndrome 6

Publications for Loeys-Dietz Syndrome 6

Articles related to Loeys-Dietz Syndrome 6:

Genes for Loeys-Dietz Syndrome 6

Genes related to Loeys-Dietz Syndrome 6 (1 elite genes):

Variations for Loeys-Dietz Syndrome 6

ClinVar genetic disease variations for Loeys-Dietz Syndrome 6:

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

Expression for Loeys-Dietz Syndrome 6

Pathways for Loeys-Dietz Syndrome 6

GO Terms for Loeys-Dietz Syndrome 6

Sources for Loeys-Dietz Syndrome 6