# Síndrome Loyes-Dietz

> Página oficial: https://raras.org/doenca/sindrome-loyes-dietz
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 60030 — https://www.orpha.net/en/disease/detail/60030
- **CID-10**: Q87.4
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A síndrome de Loeys-Dietz é uma doença genética rara do tecido conjuntivo caracterizada por um amplo espectro de manifestações craniofaciais, vasculares e esqueléticas com quatro subtipos genéticos descritos formando um continuum clínico.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Casos conhecidos**: 52
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (174 fenótipos HPO)

- **Deficiência intelectual** — HPO: HP:0001249
- **Morfologia anormal da bexiga** — HPO: HP:0025487
- **Cefaleia** — HPO: HP:0002315
- **Osteoartrite das pequenas articulações da mão** — HPO: HP:0004268
- **Testa alta** — HPO: HP:0000348
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Sindactilia** — HPO: HP:0001159
- **Aplasia das falanges distais da mão** — HPO: HP:0009881
- **Dilatação do arco aórtico** — HPO: HP:0005113
- **Artéria subclávia esquerda dilatada** — HPO: HP:0031252
- **Tortuosidade arterial generalizada** — HPO: HP:0004955
- **Dilatação da artéria mesentérica** — HPO: HP:0011934
- **Contratura articular da mão** — HPO: HP:0009473
- **Braquidactilia** — HPO: HP:0001156
- **Palato alto e estreito** — HPO: HP:0002705
- **Dor crônica** — HPO: HP:0012532
- **Enfisema** — HPO: HP:0002097
- **Olho profundamente inserido** — HPO: HP:0000490
- **Aneurisma da aorta tubular ascendente** — HPO: HP:0004970
- **Torcicolo** — HPO: HP:0000473
- **Cutis laxa** — HPO: HP:0000973
- **Pele hiperextensível** — HPO: HP:0000974
- **Córnea plana** — HPO: HP:0007720
- **Tromboflebite recorrente** — HPO: HP:0004419
- **Cisto de Tarlov** — HPO: HP:0025643
- **Hipertrofia do ventrículo esquerdo** — HPO: HP:0001712
- **Artérias cerebrais tortuosas** — HPO: HP:0004938
- **Osteopenia** — HPO: HP:0000938
- **Osteoporose** — HPO: HP:0000939
- **Fibrilação atrial** — HPO: HP:0005110
- **Cicatrizes atróficas** — HPO: HP:0001075
- **Protrusão acetabular** — HPO: HP:0003179
- **Morte súbita** — HPO: HP:0001699
- **Pneumotórax** — HPO: HP:0002107
- **Regurgitação aórtica** — HPO: HP:0001659
- **Má oclusão dentária** — HPO: HP:0000689
- **Dilatação do seio de Valsalva** — HPO: HP:0011645
- **Dissecção da aorta descendente** — HPO: HP:0012499
- **Hemorragia subaracnoidea** — HPO: HP:0002138
- **Catarata** — HPO: HP:0000518
- _...e mais 134 sintomas. Ver https://raras.org/doenca/sindrome-loyes-dietz._

## Genes associados (7)

- **SMAD2** — SMAD family member 2 [Disease-causing germline mutation(s) in]
  - Função: 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. Binds
- **IPO8** — Importin-8 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Involved in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, ma
- **TGFB3** — Transforming growth factor beta-3 proprotein [Disease-causing germline mutation(s) in]
  - Função: 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 su
- **TGFB2** — Transforming growth factor beta-2 proprotein [Disease-causing germline mutation(s) in]
  - Função: 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 Required to
- **TGFBR1** — TGF-beta receptor type-1 [Disease-causing germline mutation(s) in]
  - Função: 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. Transd
- **SMAD3** — SMAD family member 3 [Disease-causing germline mutation(s) in]
  - Função: 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. Binds
- **TGFBR2** — TGF-beta receptor type-2 [Disease-causing germline mutation(s) in]
  - Função: 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. Transdu

## Ensaios clínicos ativos (5)

- **NCT02504853** [RECRUITING]: Natural History and Genetics of Food Allergy and Related Conditions — https://clinicaltrials.gov/study/NCT02504853
- **NCT06546137** [RECRUITING]: National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry — https://clinicaltrials.gov/study/NCT06546137
- **NCT02050113** [RECRUITING]: Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices — https://clinicaltrials.gov/study/NCT02050113
- **NCT03440697** [ACTIVE_NOT_RECRUITING]: Pathogenetic Basis of Aortopathy and Aortic Valve Disease — https://clinicaltrials.gov/study/NCT03440697
- **NCT05389865** [ACTIVE_NOT_RECRUITING]: Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes — https://clinicaltrials.gov/study/NCT05389865
- **NCT07360704** [COMPLETED]: Genotypes and Craniofacial Phenotypes in Orthodontic Patients With Marfan and Loeys-Dietz Syndromes — https://clinicaltrials.gov/study/NCT07360704
- **NCT05980104** [COMPLETED]: Single-Session "Empowered Relief" Class for Marfan Syndrome and Related Conditions — https://clinicaltrials.gov/study/NCT05980104
- **NCT05472519** [COMPLETED]: Immunopathology of Loeys-Dietz Syndrome — https://clinicaltrials.gov/study/NCT05472519
- **NCT02213484** [COMPLETED]: Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes — https://clinicaltrials.gov/study/NCT02213484
- **NCT01322165** [COMPLETED]: National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions — https://clinicaltrials.gov/study/NCT01322165

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- [Síndrome de Marfan tipo 2](https://raras.org/doenca/sindrome-de-marfan-tipo-2) — ORPHA:284973 — 62 sintomas em comum
- [Síndrome Furlong](https://raras.org/doenca/sindrome-furlong) — ORPHA:97295 — 59 sintomas em comum
- [Síndrome Marfan](https://raras.org/doenca/sindrome-marfan) — ORPHA:558 — 54 sintomas em comum
- [Síndrome Marfan tipo 1](https://raras.org/doenca/sindrome-marfan-tipo-1) — ORPHA:284963 — 54 sintomas em comum
- [Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b4galt7-relacionado) — ORPHA:75496 — 47 sintomas em comum
- [Aneurisma da aorta torácica e dissecção aórtica familiar](https://raras.org/doenca/aneurisma-da-aorta-toracica-e-disseccao-aortica-familiar) — ORPHA:91387 — 43 sintomas em comum
- [Síndrome Ehlers-Danlos músculo-contratural](https://raras.org/doenca/sindrome-ehlers-danlos-musculo-contratural) — ORPHA:2953 — 43 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 42 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 42 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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