# Amiloidose

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

## Identificadores

- **ORPHA**: 69 — https://www.orpha.net/en/disease/detail/69
- **CID-10**: E85.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Vasto grupo de doenças sistémicas raras caracterizadas pela presença de depósitos de proteínas fibrilares insolúveis nos tecidos. As amiloidoses são classificadas de acordo com o tipo bioquímico da proteína amiloide envolvida.

## Epidemiologia e herança

- **Prevalência**: Unknown

## Sinais e sintomas (334 fenótipos HPO)

- **Ataxia** — HPO: HP:0001251
- **Dispneia noturna paroxística** — HPO: HP:0034807
- **Aumento da concentração circulante de NT-proBNP** — HPO: HP:0031185
- **Sinal de Romberg positivo** — HPO: HP:0002403
- **Estenose aórtica supravalvar** — HPO: HP:0004381
- **Má absorção** — HPO: HP:0002024
- **Tosse não produtiva** — HPO: HP:0031246
- **Morfologia anormal da mucosa oral** — HPO: HP:0011830
- **Fratura patológica** — HPO: HP:0002756
- **Acroparestesia** — HPO: HP:0031006
- **Lesão renal aguda** — HPO: HP:0001919
- **Artérias cerebrais tortuosas** — HPO: HP:0004938
- **Edema pulmonar** — HPO: HP:0100598
- **Amiloidose conjuntival** — HPO: HP:0010637
- **Cardiomiopatia restritiva** — HPO: HP:0001723
- **Fraqueza muscular** — HPO: HP:0001324
- **Pleocitose do LCR** — HPO: HP:0012229
- **Amiloidose renal** — HPO: HP:0001917
- **Vômitos** — HPO: HP:0002013
- **Eletrocardiograma anormal** — HPO: HP:0003115
- **Emaranhados neurofibrilares** — HPO: HP:0002185
- **Derrame pleural** — HPO: HP:0002202
- **Ataxia troncular** — HPO: HP:0002078
- **Obstrução intestinal** — HPO: HP:0005214
- **Artrite** — HPO: HP:0001369
- **Calcificação cerebral** — HPO: HP:0002514
- **Alta miopia** — HPO: HP:0011003
- **Falência testicular primária** — HPO: HP:0008720
- **Albuminúria** — HPO: HP:0012592
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Morfologia anormal do átrio cardíaco** — HPO: HP:0005120
- **Ptose bilateral** — HPO: HP:0001488
- **Diarreia crônica** — HPO: HP:0002028
- **Dor nas costas** — HPO: HP:0003418
- **Neuropatia mediana constritiva** — HPO: HP:0012185
- **Leucencefalopatia** — HPO: HP:0002352
- **Anormalidade dos linfonodos** — HPO: HP:0002733
- **Hemorragia cerebral recorrente** — HPO: HP:0004968
- **Esplenomegalia** — HPO: HP:0001744
- **Déficit na memória de curto prazo fonológica** — HPO: HP:0002549
- _...e mais 294 sintomas. Ver https://raras.org/doenca/amiloidose._

## Genes associados (14)

- **CST3** — Cystatin-C [Disease-causing germline mutation(s) in]
  - Função: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity
- **GSN** — Gelsolin [Disease-causing germline mutation(s) in]
  - Função: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly o
- **B2M** — Beta-2-microglobulin [Disease-causing germline mutation(s) in]
  - Função: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA ex
- **FGA** — Fibrinogen alpha chain [Disease-causing germline mutation(s) in]
  - Função: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in
- **IL31RA** — Interleukin-31 receptor subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15194700, PubMed:15627637). May function
- **APOA2** — Apolipoprotein A-II [Candidate gene tested in]
  - Função: May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism
- **SAA1** — Serum amyloid A-1 protein [Candidate gene tested in]
  - Função: Major acute phase protein
- **LYZ** — Lysozyme C [Disease-causing germline mutation(s) in]
  - Função: Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents
- **ITM2B** — Integral membrane protein 2B [Disease-causing germline mutation(s) in]
  - Função: Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the in
- **TTR** — Transthyretin [Disease-causing germline mutation(s) in]
  - Função: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain
- **APP** — Amyloid-beta precursor protein [Disease-causing germline mutation(s) in]
  - Função: Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on
- **APOA1** — Apolipoprotein A-I [Disease-causing germline mutation(s) in]
  - Função: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acylt
- **OSMR** — Oncostatin-M-specific receptor subunit beta [Disease-causing germline mutation(s) in]
  - Função: Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events
- **GPNMB** — Transmembrane glycoprotein NMB [Disease-causing germline mutation(s) in]
  - Função: Could be a melanogenic enzyme

## Ensaios clínicos ativos (22)

- **NCT06427304** [RECRUITING]: Cardiac Amyloidosis pRevaleNce of in OLDer Subjects Affected by Heart Failure — https://clinicaltrials.gov/study/NCT06427304
- **NCT06649695** [RECRUITING]: A Phase II Trial of Teclistamab in Participants With Previously Treated Immunoglobulin Light-chain (AL) Amyloidosis — https://clinicaltrials.gov/study/NCT06649695
- **NCT07223203** [RECRUITING]: TRITON-PN: A Study to Evaluate the Efficacy and Safety of Nucresiran in Patients With Hereditary Transthyretin Amyloidosis With Polyneuropathy — https://clinicaltrials.gov/study/NCT07223203
- **NCT07052903** [RECRUITING]: TRITON-CM: A Study to Evaluate Nucresiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy — https://clinicaltrials.gov/study/NCT07052903
- **NCT06383143** [RECRUITING]: Promoting Diagnosis and Management of AL in Italy (ProDigALIty) — https://clinicaltrials.gov/study/NCT06383143
- **NCT06251778** [RECRUITING]: NatiOnal Referral cenTEr Study of Transthyretin Amyloid Cardiomyopathy(ATTR) Patients on Tafamidis — https://clinicaltrials.gov/study/NCT06251778
- **NCT04839003** [RECRUITING]: A Registry of AL Amyloidosis (ReAL) — https://clinicaltrials.gov/study/NCT04839003
- **NCT06205953** [RECRUITING]: A EUropean REgistry and Sample Sharing networK to Promote the Diagnosis and Management of Light Chain Amyloidosis (EUREKA) — https://clinicaltrials.gov/study/NCT06205953
- **NCT06672237** [RECRUITING]: A Phase 3 Study of NTLA-2001 in ATTRv-PN — https://clinicaltrials.gov/study/NCT06672237
- **NCT07308704** [RECRUITING]: A Study Of Deep Learning For Echo Analysis, Tracking, And Evaluation — https://clinicaltrials.gov/study/NCT07308704

## Doenças relacionadas (por similaridade fenotípica)

- [Amiloidose ATTR hereditária](https://raras.org/doenca/amiloidose-attr-hereditaria) — ORPHA:271861 — 124 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 60 sintomas em comum
- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 58 sintomas em comum
- [Amiloidose familiar tipo finlandês](https://raras.org/doenca/amiloidose-familiar-tipo-finlandes) — ORPHA:85448 — 55 sintomas em comum
- [Amiloidose AL](https://raras.org/doenca/amiloidose-al) — ORPHA:85443 — 55 sintomas em comum
- [Miocardiopatia hipertrófica não familiar](https://raras.org/doenca/miocardiopatia-hipertrofica-nao-familiar) — ORPHA:217598 — 55 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 54 sintomas em comum
- [Nefropatia amiloidótica familiar](https://raras.org/doenca/nefropatia-amiloidotica-familiar) — ORPHA:85450 — 50 sintomas em comum
- [Amiloidose ABeta2M](https://raras.org/doenca/amiloidose-abeta2m) — ORPHA:439246 — 48 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 47 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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