Loeys-Dietz syndrome

Summary

Loeys-Dietz syndrome (MONDO:0018954) is a disease (an umbrella term covering 6 Mondo subtypes) caused by SMAD2 (GenCC Strong), with 14 cohort genes and 10 clinical trials. The dominant Reactome pathway is TGF-beta receptor signaling activates SMADs (7 cohort genes).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Causal gene: SMAD2 (GenCC Strong)
• Umbrella term: 6 Mondo subtypes
• Cohort genes: 14
• ClinVar variants: 282
• Phenotypes (HPO): 38
• Clinical trials: 10

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		52	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

38 HPO clinical features (Orphanet curated; top 38 by frequency):

HPO ID	Term	Frequency
HP:0001643	Patent ductus arteriosus	Very frequent (80-99%)
HP:0001763	Pes planus	Very frequent (80-99%)
HP:0002617	Dilatation	Very frequent (80-99%)
HP:0002647	Aortic dissection	Very frequent (80-99%)
HP:0004942	Aortic aneurysm	Very frequent (80-99%)
HP:0005116	Arterial tortuosity	Very frequent (80-99%)
HP:0005294	Arterial dissection	Very frequent (80-99%)
HP:0100718	Uterine rupture	Very frequent (80-99%)
HP:0000098	Tall stature	Frequent (30-79%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000193	Bifid uvula	Frequent (30-79%)
HP:0000202	Orofacial cleft	Frequent (30-79%)
HP:0000272	Malar flattening	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000347	Micrognathia	Frequent (30-79%)
HP:0000592	Blue sclerae	Frequent (30-79%)
HP:0000964	Eczematoid dermatitis	Frequent (30-79%)
HP:0000987	Atypical scarring of skin	Frequent (30-79%)
HP:0001065	Striae distensae	Frequent (30-79%)
HP:0001166	Arachnodactyly	Frequent (30-79%)
HP:0001363	Craniosynostosis	Frequent (30-79%)
HP:0001382	Joint hypermobility	Frequent (30-79%)
HP:0001762	Talipes equinovarus	Frequent (30-79%)
HP:0002099	Asthma	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0100490	Camptodactyly of finger	Frequent (30-79%)
HP:0001382	Joint hypermobility	Occasional (5-29%)
HP:0000545	Myopia	Occasional (5-29%)
HP:0000767	Pectus excavatum	Occasional (5-29%)
HP:0000768	Pectus carinatum	Occasional (5-29%)
HP:0000963	Thin skin	Occasional (5-29%)
HP:0000978	Bruising susceptibility	Occasional (5-29%)
HP:0001373	Joint dislocation	Occasional (5-29%)
HP:0001653	Mitral regurgitation	Occasional (5-29%)
HP:0001695	Cardiac arrest	Occasional (5-29%)
HP:0001892	Abnormal bleeding	Occasional (5-29%)
HP:0002108	Spontaneous pneumothorax	Occasional (5-29%)
HP:0410151	Eosinophilic infiltration of the esophagus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Loeys-Dietz syndrome
Mondo ID	MONDO:0018954
MeSH	D055947
OMIM	609192
Orphanet	60030
DOID	DOID:0050466
NCIT	C75006
SNOMED CT	446263001
UMLS	C2697932
MedGen	395827
GARD	0010788
NORD	91173
Is cancer (heuristic)	no

Also known as: aortic aneurysm syndrome due to TGF-beta receptors anomalies · aortic aneurysm syndrome, Loeys-Dietz type · Loeys-Dietz syndrome

Data availability: 282 ClinVar variants · 4 GenCC gene-disease records · 8 cell lines.

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › Loeys-Dietz syndrome

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid syndrome

Subtypes (6): Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 2, aneurysm-osteoarthritis syndrome, Loeys-Dietz syndrome 4, Rienhoff syndrome, Loeys-Dietz syndrome 6

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

282 retrieved; paginated sample, class counts are floors:

123 uncertain significance, 57 likely benign, 46 conflicting classifications of pathogenicity, 19 pathogenic/likely pathogenic, 13 likely pathogenic, 12 pathogenic, 9 benign/likely benign, 3 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1740383	NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)	ABCA3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
16457	NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)	FBN1	Pathogenic	criteria provided, multiple submitters, no conflicts
2846439	NM_005901.6(SMAD2):c.961C>T (p.Arg321Ter)	SMAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
155836	NM_005902.4(SMAD3):c.364G>A (p.Val122Met)	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
180524	NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2780301	NM_005902.4(SMAD3):c.770_771del (p.Val257fs)	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
642412	NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter)	SMAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1451388	NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter)	TGFB2	Pathogenic	criteria provided, multiple submitters, no conflicts
180536	NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)	TGFB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
222832	NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)	TGFB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
224872	NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)	TGFB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
381708	NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)	TGFB2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
410268	NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)	TGFB3	Pathogenic	criteria provided, multiple submitters, no conflicts
477651	NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter)	TGFB3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12524	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12525	NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Pathogenic	criteria provided, multiple submitters, no conflicts
12526	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
180539	NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)	TGFBR1	Pathogenic	criteria provided, single submitter
213882	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
213896	NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del)	TGFBR1	Pathogenic	criteria provided, multiple submitters, no conflicts
263773	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	TGFBR1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
492846	NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val)	TGFBR1	Pathogenic	no assertion criteria provided
12511	NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	TGFBR2	Pathogenic	criteria provided, multiple submitters, no conflicts
12512	NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	TGFBR2	Pathogenic	criteria provided, multiple submitters, no conflicts
12519	NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)	TGFBR2	Pathogenic	criteria provided, multiple submitters, no conflicts
165391	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
165398	NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)	TGFBR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1687722	NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)	TGFBR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
177704	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
180541	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 38 · Orphanet: 50 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TGFBR1	Definitive	Autosomal dominant	Loeys-Dietz syndrome 1	11
TGFBR2	Definitive	Autosomal dominant	Loeys-Dietz syndrome 2	6
SMAD2	Strong	Autosomal dominant	Loeys-Dietz syndrome 6	11
TGFB3	Limited	Autosomal recessive	Loeys-Dietz syndrome	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TGFB3	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TGFB3	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TGFB3	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TGFB3	Orphanet:60030	Loeys-Dietz syndrome
TGFB3	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR1	Orphanet:284973	Marfan syndrome type 2
TGFBR1	Orphanet:60030	Loeys-Dietz syndrome
TGFBR1	Orphanet:65748	Multiple self-healing squamous epithelioma
TGFBR1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR2	Orphanet:144	Lynch syndrome
TGFBR2	Orphanet:284973	Marfan syndrome type 2
TGFBR2	Orphanet:60030	Loeys-Dietz syndrome
TGFBR2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFBR2	Orphanet:99977	Squamous cell carcinoma of the esophagus
SMAD2	Orphanet:60030	Loeys-Dietz syndrome
SMAD2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
TGFB2	Orphanet:60030	Loeys-Dietz syndrome
TGFB2	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
COL3A1	Orphanet:231160	Familial cerebral saccular aneurysm
COL3A1	Orphanet:2500	Acrogeria
COL3A1	Orphanet:286	Vascular Ehlers-Danlos syndrome
COL3A1	Orphanet:636941	Vascular Ehlers-Danlos-polymicrogyria syndrome
COL3A1	Orphanet:86	Familial abdominal aortic aneurysm
COL5A1	Orphanet:287	Classical Ehlers-Danlos syndrome
COL5A2	Orphanet:287	Classical Ehlers-Danlos syndrome
ABCA3	Orphanet:2032	Idiopathic pulmonary fibrosis
ABCA3	Orphanet:217563	Neonatal acute respiratory distress syndrome
ABCA3	Orphanet:440402	Interstitial lung disease due to ABCA3 deficiency
ABCA3	Orphanet:685082	Pediatric acute respiratory distress syndrome
FBN1	Orphanet:1885	Isolated ectopia lentis
FBN1	Orphanet:2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
FBN1	Orphanet:2462	Shprintzen-Goldberg syndrome
FBN1	Orphanet:2623	Geleophysic dysplasia
FBN1	Orphanet:2833	Stiff skin syndrome
FBN1	Orphanet:284963	Marfan syndrome type 1
FBN1	Orphanet:284979	Neonatal Marfan syndrome
FBN1	Orphanet:300382	Progeroid and marfanoid aspect-lipodystrophy syndrome
FBN1	Orphanet:3449	Weill-Marchesani syndrome
FBN1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
FBN1	Orphanet:969	Acromicric dysplasia
FBN2	Orphanet:115	Congenital contractural arachnodactyly
SMAD3	Orphanet:284984	Aneurysm-osteoarthritis syndrome
SMAD3	Orphanet:60030	Loeys-Dietz syndrome
SMAD3	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
MYH11	Orphanet:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
MYH11	Orphanet:229	Familial aortic dissection
MYH11	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
MYH11	Orphanet:98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
MYLK	Orphanet:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
MYLK	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection

Cohort genes → proteins

14 cohort genes, 14 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	14

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TGFB3	HGNC:11769	ENSG00000119699	P10600	Transforming growth factor beta-3 proprotein	gencc,clinvar
TGFBR1	HGNC:11772	ENSG00000106799	P36897	TGF-beta receptor type-1	gencc,clinvar
TGFBR2	HGNC:11773	ENSG00000163513	P37173	TGF-beta receptor type-2	gencc,clinvar
SMAD2	HGNC:6768	ENSG00000175387	Q15796	SMAD family member 2	gencc,clinvar
TGFB2	HGNC:11768	ENSG00000092969	P61812	Transforming growth factor beta-2 proprotein	clinvar
COL3A1	HGNC:2201	ENSG00000168542	P02461	Collagen alpha-1(III) chain	clinvar
COL5A1	HGNC:2209	ENSG00000130635	P20908	Collagen alpha-1(V) chain	clinvar
COL5A2	HGNC:2210	ENSG00000204262	P05997	Collagen alpha-2(V) chain	clinvar
ABCA3	HGNC:33	ENSG00000167972	Q99758	Phospholipid-transporting ATPase ABCA3	clinvar
FBN1	HGNC:3603	ENSG00000166147	P35555	Fibrillin-1	clinvar
FBN2	HGNC:3604	ENSG00000138829	P35556	Fibrillin-2	clinvar
SMAD3	HGNC:6769	ENSG00000166949	P84022	SMAD family member 3	clinvar
MYH11	HGNC:7569	ENSG00000133392	P35749	Myosin-11	clinvar
MYLK	HGNC:7590	ENSG00000065534	Q15746	Myosin light chain kinase, smooth muscle	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TGFB3	Transforming growth factor beta-3 proprotein	Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.
TGFBR1	TGF-beta receptor type-1	Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
TGFBR2	TGF-beta receptor type-2	Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
SMAD2	SMAD family member 2	Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases.
TGFB2	Transforming growth factor beta-2 proprotein	Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
COL3A1	Collagen alpha-1(III) chain	Collagen type III occurs in most soft connective tissues along with type I collagen.
COL5A1	Collagen alpha-1(V) chain	Type V collagen is a member of group I collagen (fibrillar forming collagen).
COL5A2	Collagen alpha-2(V) chain	Type V collagen is a member of group I collagen (fibrillar forming collagen).
ABCA3	Phospholipid-transporting ATPase ABCA3	Catalyzes the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pul…
FBN1	Fibrillin-1	Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues.
FBN2	Fibrillin-2	Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles.
SMAD3	SMAD family member 3	Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases.
MYH11	Myosin-11	Muscle contraction.
MYLK	Myosin light chain kinase, smooth muscle	Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC).

Protein-family classification

Druggable: 4 · Difficult: 1 · Unknown: 9 · Druggable fraction: 0.29

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	3	5.9×	0.051
Transporter	1	5.6×	0.331
Other/Unknown	9	1.1×	0.480
Scaffold/PPI	1	1.2×	0.566

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TGFB3	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
TGFBR1	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
TGFBR2	Kinase	yes	2.7.10.2	TGFB_receptor, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
SMAD2	Other/Unknown	no		SMAD_dom, MAD_homology1_Dwarfin-type, SMAD_FHA_dom_sf
TGFB2	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGFb2
COL3A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
COL5A1	Other/Unknown	no		Fib_collagen_C, Laminin_G, Collagen
COL5A2	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen
ABCA3	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC2_TM
FBN1	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
FBN2	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
SMAD3	Other/Unknown	no		SMAD_dom, MAD_homology1_Dwarfin-type, SMAD_FHA_dom_sf
MYH11	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail
MYLK	Kinase	yes	2.7.11.18	Prot_kinase_dom, Ig_sub2, Ig_sub

Expression context

Cohort genes with no expression data: 0.

14 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	14
unknown	0

Top tissues across cohort

Tissue	Cohort genes
saphenous vein	3
cartilage tissue	3
tendon of biceps brachii	3
tibia	2
visceral pleura	2
parietal pleura	2
calcaneal tendon	2
skin of hip	2
periodontal ligament	2
stromal cell of endometrium	2
endocervix	1
gall bladder	1
pericardium	1
male germ cell	1
sperm	1
tendon	1
lower lobe of lung	1
upper lobe of left lung	1
upper lobe of lung	1
decidua	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TGFB3	244	broad	marker	saphenous vein, endocervix, gall bladder
TGFBR1	269	ubiquitous	marker	saphenous vein, tibia, visceral pleura
TGFBR2	289	ubiquitous	marker	pericardium, tibia, parietal pleura
SMAD2	299	ubiquitous	marker	calcaneal tendon, sperm, male germ cell
TGFB2	206	ubiquitous	marker	calcaneal tendon, tendon, cartilage tissue
COL3A1	281	ubiquitous	marker	skin of hip, parietal pleura, visceral pleura
COL5A1	248	ubiquitous	marker	stromal cell of endometrium, periodontal ligament, tendon of biceps brachii
COL5A2	266	ubiquitous	marker	tendon of biceps brachii, periodontal ligament, stromal cell of endometrium
ABCA3	222	ubiquitous	marker	lower lobe of lung, upper lobe of lung, upper lobe of left lung
FBN1	275	ubiquitous	marker	synovial joint, skin of hip, decidua
FBN2	194	ubiquitous	marker	cartilage tissue, placenta, adrenal tissue
SMAD3	288	ubiquitous	marker	tendon of biceps brachii, cartilage tissue, hindlimb stylopod muscle
MYH11	143	broad	marker	right coronary artery, lower esophagus, lower esophagus muscularis layer
MYLK	289	ubiquitous	marker	cauda epididymis, saphenous vein, seminal vesicle

Protein interactions among cohort

Intra-cohort edges: 23.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMAD3	6,440
TGFBR2	5,777
SMAD2	5,751
TGFBR1	4,828
MYH11	3,818
FBN1	3,640
COL3A1	3,629
TGFB3	2,972
MYLK	2,763
COL5A1	2,600

Intra-cohort edges

A	B	Sources
COL3A1	COL5A1	string_interaction
COL3A1	COL5A2	string_interaction
COL3A1	FBN1	string_interaction
COL3A1	FBN2	string_interaction
COL5A1	COL5A2	string_interaction
COL5A1	FBN1	string_interaction
FBN1	FBN2	intact, string_interaction
FBN1	MYLK	string_interaction
FBN1	TGFBR1	string_interaction
FBN1	TGFBR2	string_interaction
FBN2	TGFBR1	string_interaction
FBN2	TGFBR2	string_interaction
MYH11	MYLK	string_interaction
SMAD2	SMAD3	string_interaction
SMAD2	TGFB3	string_interaction
SMAD2	TGFBR1	string_interaction
SMAD2	TGFBR2	string_interaction
SMAD3	TGFB3	string_interaction
SMAD3	TGFBR1	string_interaction
SMAD3	TGFBR2	string_interaction
TGFB3	TGFBR1	intact, string_interaction
TGFB3	TGFBR2	biogrid_interaction, intact, string_interaction
TGFBR1	TGFBR2	string_interaction

Structural data

PDB: 12 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TGFBR1	P36897	44
TGFBR2	P37173	22
SMAD3	P84022	12
TGFB3	P10600	11
TGFB2	P61812	11
COL3A1	P02461	11
FBN1	P35555	11
SMAD2	Q15796	10
MYLK	Q15746	8
ABCA3	Q99758	2
COL5A1	P20908	1
MYH11	P35749	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
COL5A2	P05997	53.15
FBN2	P35556

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 115. Enrichment computed across 14 evidence-associated genes (14 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
TGF-beta receptor signaling activates SMADs	7	163.1×	5e-13	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, FBN1, SMAD3
Loss of Function of TGFBR1 in Cancer	4	652.6×	4e-10	TGFBR1, TGFBR2, SMAD2, SMAD3
Loss of Function of SMAD2/3 in Cancer	4	543.8×	4e-10	TGFBR1, TGFBR2, SMAD2, SMAD3
Signaling by TGF-beta Receptor Complex in Cancer	4	543.8×	4e-10	TGFBR1, TGFBR2, SMAD2, SMAD3
SMAD2/3 Phosphorylation Motif Mutants in Cancer	4	543.8×	4e-10	TGFBR1, TGFBR2, SMAD2, SMAD3
TGFBR1 KD Mutants in Cancer	4	543.8×	4e-10	TGFBR1, TGFBR2, SMAD2, SMAD3
Signaling by TGF-beta Receptor Complex	6	85.9×	6e-10	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, SMAD3
Signaling by TGFB family members	6	49.4×	1e-08	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, SMAD3
ECM proteoglycans	5	53.7×	3e-07	TGFB3, TGFB2, COL3A1, COL5A1, COL5A2
Downregulation of TGF-beta receptor signaling	4	116.5×	3e-07	TGFBR1, TGFBR2, SMAD2, SMAD3
Signaling by TGFBR3	4	105.2×	5e-07	TGFBR1, TGFBR2, TGFB2, SMAD3
Elastic fibre formation	4	96.0×	6e-07	TGFB3, TGFB2, FBN1, FBN2
TGFBR3 regulates TGF-beta signaling	3	305.9×	7e-07	TGFBR1, TGFBR2, TGFB2
Molecules associated with elastic fibres	4	88.2×	7e-07	TGFB3, TGFB2, FBN1, FBN2
Fibronectin matrix formation	3	122.4×	1e-05	COL3A1, COL5A1, COL5A2
Integrin cell surface interactions	4	38.4×	2e-05	COL3A1, COL5A1, COL5A2, FBN1
Loss of Function of SMAD4 in Cancer	2	543.8×	2e-05	SMAD2, SMAD3
SMAD4 MH2 Domain Mutants in Cancer	2	543.8×	2e-05	SMAD2, SMAD3
SMAD2/3 MH2 Domain Mutants in Cancer	2	543.8×	2e-05	SMAD2, SMAD3
Loss of Function of TGFBR2 in Cancer	2	543.8×	2e-05	TGFBR1, TGFBR2
TGFBR2 Kinase Domain Mutants in Cancer	2	543.8×	2e-05	TGFBR1, TGFBR2
Syndecan interactions	3	90.6×	2e-05	COL3A1, COL5A1, COL5A2
Deubiquitination	4	35.5×	2e-05	TGFBR1, TGFBR2, SMAD2, SMAD3
MET activates PTK2 signaling	3	81.6×	3e-05	COL3A1, COL5A1, COL5A2
TGFBR1 LBD Mutants in Cancer	2	407.9×	4e-05	TGFBR1, TGFBR2
Signal Transduction	8	5.8×	7e-05	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, SMAD3, MYH11, MYLK
Collagen chain trimerization	3	55.6×	8e-05	COL3A1, COL5A1, COL5A2
Signaling by PDGF	3	54.4×	8e-05	COL3A1, COL5A1, COL5A2
NCAM1 interactions	3	53.2×	9e-05	COL3A1, COL5A1, COL5A2
Developmental Lineage of Pancreatic Ductal Cells	3	48.9×	1e-04	COL3A1, COL5A1, COL5A2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 14 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
transforming growth factor beta receptor signaling pathway	7	79.5×	4e-10	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, COL3A1, SMAD3
positive regulation of epithelial to mesenchymal transition	6	136.3×	4e-10	TGFB3, TGFBR1, TGFBR2, SMAD2, TGFB2, SMAD3
positive regulation of SMAD protein signal transduction	5	136.8×	2e-08	TGFB3, TGFBR1, TGFBR2, TGFB2, SMAD3
secondary palate development	4	343.9×	3e-08	TGFB3, TGFBR2, SMAD2, TGFB2
activin receptor signaling pathway	4	253.4×	8e-08	TGFBR1, TGFBR2, SMAD2, SMAD3
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	3	902.8×	1e-07	TGFBR1, TGFBR2, TGFB2
collagen fibril organization	5	80.2×	2e-07	TGFBR1, TGFB2, COL3A1, COL5A1, COL5A2
embryonic cranial skeleton morphogenesis	4	166.0×	3e-07	TGFBR1, TGFBR2, SMAD2, SMAD3
heart development	6	33.8×	4e-07	TGFB3, TGFBR1, TGFBR2, TGFB2, COL3A1, FBN1
trophoblast cell migration	3	515.9×	6e-07	TGFBR1, SMAD2, SMAD3
in utero embryonic development	6	30.9×	6e-07	TGFB3, TGFBR1, TGFBR2, SMAD2, COL3A1, SMAD3
response to cholesterol	3	361.1×	2e-06	TGFBR1, TGFBR2, SMAD2
wound healing	4	65.1×	9e-06	TGFBR1, TGFB2, COL3A1, SMAD3
uterine wall breakdown	2	1203.7×	2e-05	TGFB3, TGFB2
negative regulation of endodermal cell differentiation	2	1203.7×	2e-05	COL5A1, COL5A2
SMAD protein signal transduction	3	157.0×	2e-05	TGFBR2, SMAD2, SMAD3
cell-cell junction organization	3	133.8×	3e-05	TGFB3, TGFB2, SMAD3
paraxial mesoderm morphogenesis	2	802.5×	4e-05	SMAD2, SMAD3
regulation of transforming growth factor beta2 production	2	601.9×	6e-05	TGFB2, SMAD3
obsolete sequestering of TGFbeta in extracellular matrix	2	601.9×	6e-05	FBN1, FBN2
eye morphogenesis	2	601.9×	6e-05	COL5A1, COL5A2
aorta smooth muscle tissue morphogenesis	2	601.9×	6e-05	COL3A1, MYLK
skin development	3	95.0×	6e-05	COL3A1, COL5A1, COL5A2
skeletal system development	4	35.9×	6e-05	TGFBR1, TGFB2, COL5A2, FBN1
ventricular septum morphogenesis	3	92.6×	6e-05	TGFBR1, TGFBR2, TGFB2
endocardial cushion fusion	2	481.5×	9e-05	TGFBR2, TGFB2
positive regulation of tight junction disassembly	2	481.5×	9e-05	TGFB3, TGFBR1
epithelial to mesenchymal transition	3	66.9×	1e-04	TGFBR1, TGFBR2, TGFB2
positive regulation of stress fiber assembly	3	66.9×	1e-04	TGFB3, TGFBR1, SMAD3
salivary gland morphogenesis	2	343.9×	2e-04	TGFB3, TGFB2

Therapeutics

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 5 · Undrugged: 9

Druggability breadth: 10 of 14 evidence-associated genes (71%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
TGFBR1	MOMELOTINIB
TGFBR2	PONATINIB
SMAD3	FLUORESCEIN
MYLK	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TGFBR1	28	4
MYLK	28	4
TGFBR2	22	4
SMAD3	2	4
TGFB2	1	2
TGFB3	0	0
SMAD2	0	0
COL3A1	0	0
COL5A1	0	0
COL5A2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1, TGFBR2
NINTEDANIB	4	MYLK, TGFBR1
DASATINIB	4	MYLK, TGFBR1, TGFBR2
CRIZOTINIB	4	TGFBR1
PONATINIB	4	MYLK, TGFBR2
VEMURAFENIB	4	TGFBR2
FEDRATINIB	4	MYLK, TGFBR2
SORAFENIB	4	TGFBR2
TOVORAFENIB	4	MYLK, TGFBR2
PAZOPANIB	4	TGFBR2
FLUORESCEIN	4	SMAD3
AFATINIB	4	MYLK
RUXOLITINIB	4	MYLK
NIFEDIPINE	4	MYLK
BOSUTINIB	4	MYLK
GILTERITINIB	4	MYLK
SUNITINIB	4	MYLK
QUIZARTINIB	4	MYLK
MIDOSTAURIN	4	MYLK
SARACATINIB	3	TGFBR1
CANERTINIB	3	TGFBR1, TGFBR2
TESEVATINIB	3	TGFBR1
CEDIRANIB	3	TGFBR1
LESTAURTINIB	3	MYLK, TGFBR1, TGFBR2
ALVOCIDIB	3	TGFBR2
FASUDIL	3	MYLK
DOVITINIB	3	MYLK
RUBOXISTAURIN	3	MYLK
GALUNISERTIB	2	TGFB2, TGFBR1, TGFBR2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TGFBR1	541	Binding:516, Functional:13, ADMET:12
MYLK	303	Binding:303
TGFBR2	188	Binding:188
SMAD3	24	Binding:18, Functional:6
SMAD2	20	Binding:20
TGFB2	3	Binding:3
TGFB3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TGFBR1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase
TGFBR2	2.7.10.2	non-specific protein-tyrosine kinase
MYLK	2.7.11.18	myosin-light-chain kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TGFBR1	541
TGFBR2	188
MYLK	303

Pharmacogenomics

Cohort genes with a PharmGKB record: 14; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MOMELOTINIB	4	TGFBR1
DABRAFENIB	4	TGFBR1, TGFBR2
NINTEDANIB	4	MYLK, TGFBR1
DASATINIB	4	MYLK, TGFBR1, TGFBR2
CRIZOTINIB	4	TGFBR1
PONATINIB	4	MYLK, TGFBR2
VEMURAFENIB	4	TGFBR2
FEDRATINIB	4	MYLK, TGFBR2
SORAFENIB	4	TGFBR2
TOVORAFENIB	4	MYLK, TGFBR2
PAZOPANIB	4	TGFBR2
FLUORESCEIN	4	SMAD3
AFATINIB	4	MYLK
RUXOLITINIB	4	MYLK
NIFEDIPINE	4	MYLK
BOSUTINIB	4	MYLK
GILTERITINIB	4	MYLK
SUNITINIB	4	MYLK
QUIZARTINIB	4	MYLK
MIDOSTAURIN	4	MYLK
SARACATINIB	3	TGFBR1
CANERTINIB	3	TGFBR1, TGFBR2
TESEVATINIB	3	TGFBR1
CEDIRANIB	3	TGFBR1
LESTAURTINIB	3	MYLK, TGFBR1, TGFBR2
ALVOCIDIB	3	TGFBR2
FASUDIL	3	MYLK
DOVITINIB	3	MYLK
RUBOXISTAURIN	3	MYLK
GALUNISERTIB	2	TGFB2, TGFBR1, TGFBR2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	TGFBR1, TGFBR2, SMAD3, MYLK
B	Phased (≥1) drug, not yet approved	1	TGFB2
C	Druggable family + PDB, no drug	1	ABCA3
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	8	TGFB3, SMAD2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11

Undrugged target profiles

9 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TGFB3	1	TGFBR1, TGFBR2
SMAD2	20	TGFBR1
COL3A1	0	—
COL5A1	0	—
COL5A2	0	—
ABCA3	0	—
FBN1	0	—
FBN2	0	—
MYH11	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	10

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02050113	Not specified	RECRUITING	Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
NCT02504853	Not specified	RECRUITING	Natural History and Genetics of Food Allergy and Related Conditions
NCT03440697	Not specified	ACTIVE_NOT_RECRUITING	Pathogenetic Basis of Aortopathy and Aortic Valve Disease
NCT05389865	Not specified	ACTIVE_NOT_RECRUITING	Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes
NCT06546137	Not specified	RECRUITING	National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry
NCT01322165	Not specified	COMPLETED	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
NCT02213484	Not specified	COMPLETED	Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
NCT05472519	Not specified	COMPLETED	Immunopathology of Loeys-Dietz Syndrome
NCT05980104	Not specified	COMPLETED	Single-Session Empowered Relief Class for Marfan Syndrome and Related Conditions
NCT07360704	Not specified	COMPLETED	Genotypes and Craniofacial Phenotypes in Orthodontic Patients With Marfan and Loeys-Dietz Syndromes