ORPHA:60030
Loeys-Dietz syndrome
Synonyms: Aortic aneurysm syndrome due to TGF-beta receptors anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Loeys-Dietz syndrome | Aortic aneurysm syndrome due to TGF-beta receptors anomalies |
| fr | Syndrome de Loeys-Dietz | |
| de | Loeys-Dietz-Syndrom | Aortenaneurysma-Syndrom durch TGFbeta-Rezeptor-Anomalien |
| es | Síndrome de Loeys-Dietz | Síndrome de aneurisma aórtico por anomalías en los receptores del TGF-beta |
| it | Sindrome di Loeys-Dietz | Sindrome dell'aneurisma aortico da anomalie dei recettori TGF-beta |
| nl | Syndroom van Loeys-Dietz | Syndroom van aneurysma van aorta door anomalieën van TGF-bèta-receptoren |
| pt | Síndrome Loyes-Dietz | Síndrome aneurisma aórtico por anomalia nos recetores beta do TGF |
| pl | Zespół Loeysa i Dietza | Zespół tętniaka aorty spowodowany anomaliami receptorów TGF-beta |
| cs | Loeysův-Dietzův syndrom | Syndrom aortálního aneuryzmatu způsobeného anomáliemi receptorů pro TGF-beta · Loeys-Dietzův syndrom |
| uk | Синдром Лойса-Діца | Синдром аневризми аорти через аномалії рецепторів TGF-бета |
| zh | 洛伊-迪茨综合征 | TGF-β受体异常型主动脉瘤综合征 |
| tr | Loeys-Dietz sendromu | TGF-beta reseptör anomalilerine bağlı aort anevrizma sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609192 | BTNT | validated | |
| OMIM | 610168 | BTNT | validated | |
| OMIM | 613795 | BTNT | validated | |
| OMIM | 614816 | BTNT | validated | |
| OMIM | 615582 | BTNT | validated | |
| OMIM | 619472 | BTNT | validated | |
| OMIM | 619656 | BTNT | validated | |
| ICD-10 | Q87.4 | NTBT | attributed | validated |
| ICD-11 | BD50.Z | NTBT | index | validated |
| MONDO | 0018954 | E | validated | |
| MeSH | D055947 | E | validated | |
| UMLS | C2697932 | E | validated | |
| GARD | 10788 | E | validated | |
| MedDRA | 10081284 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:97295Furlong syndrome moved to · inactive
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IPO8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9853 | ENSG00000133704 | 605600 | 12p11.21 | importin 8 | 34010605[PMID] |
| SMAD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6768 | ENSG00000175387 | 601366 | 18q21.1 | SMAD family member 2 | 29392890[PMID]_31000321[PMID] |
| SMAD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6769 | ENSG00000166949 | 603109 | 15q22.33 | SMAD family member 3 | 32935439[PMID]_29392890[PMID]_31000321[PMID] |
| TGFB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11768 | ENSG00000092969 | 190220 | 1q41 | transforming growth factor beta 2 | 24440784[PMID]_25163805[PMID]_28544325[PMID] |
| TGFB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11769 | ENSG00000119699 | 190230 | 14q24.3 | transforming growth factor beta 3 | 26184463[PMID]_29392890[PMID] |
| TGFBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11772 | ENSG00000106799 | 190181 | 9q22.33 | transforming growth factor beta receptor 1 | 15731757[PMID]_16928994[PMID] |
| TGFBR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11773 | ENSG00000163513 | 190182 | 3p24.1 | transforming growth factor beta receptor 2 | 15731757[PMID]_16928994[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 52 families | Worldwide | Family(ies) | Validated | 16928994[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_16928994[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2025-06-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0002647 | Aortic dissection | |
| HP:0005294 | Arterial dissection | |
| HP:0005116 | Arterial tortuosity | |
| HP:0002617 | Dilatation | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001763 | Pes planus | |
| HP:0100718 | Uterine rupture | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0002099 | Asthma | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000193 | Bifid uvula | |
| HP:0000592 | Blue sclerae | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0001065 | Striae distensae | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000098 | Tall stature | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001695 | Cardiac arrest | |
| HP:0410151 | Eosinophilic infiltration of the esophagus | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000545 | Myopia | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0002108 | Spontaneous pneumothorax | |
| HP:0000963 | Thin skin | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301312[PMID]_16928994[PMID]_8287183[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60030
- This record as JSON: /data/d/60030.json