# Síndrome progeroide

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

## Identificadores

- **ORPHA**: 139033 — https://www.orpha.net/en/disease/detail/139033
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um grupo de doenças genéticas raras que simulam o envelhecimento natural do corpo, fazendo com que as pessoas afetadas pareçam mais velhas do que realmente são.

## Epidemiologia e herança


## Sinais e sintomas (679 fenótipos HPO)

- **Calvária espessada** — HPO: HP:0002684
- **Disfunção sistólica do ventrículo esquerdo** — HPO: HP:0025169
- **Pápula** — HPO: HP:0200034
- **Fenômeno de Raynaud** — HPO: HP:0030880
- **Dor no quadril** — HPO: HP:0030838
- **Lagoftalmo noturno** — HPO: HP:0030002
- **Oclusão da artéria carótida** — HPO: HP:0012474
- **Movimento limitado do ombro** — HPO: HP:0006467
- **Persistência de dentes decíduos** — HPO: HP:0006335
- **Movimento limitado do punho** — HPO: HP:0006248
- **Calcificação da valva aórtica** — HPO: HP:0004380
- **Osteoartrite** — HPO: HP:0002758
- **Ataque isquêmico transitório** — HPO: HP:0002326
- **Estenose da valva aórtica** — HPO: HP:0001650
- **Cianose** — HPO: HP:0000961
- **Marcha arrastada** — HPO: HP:0002362
- **Alopecia em placas** — HPO: HP:0002232
- **Unha do pé distrófica** — HPO: HP:0001810
- **Frênulo lingual curto** — HPO: HP:0000200
- **Perda de cílios** — HPO: HP:0011457
- **Dente impactado** — HPO: HP:0011079
- **Necrose avascular** — HPO: HP:0010885
- **Calcificação ectópica** — HPO: HP:0010766
- **Limitação do movimento nos tornozelos** — HPO: HP:0010505
- **Movimento limitado do quadril** — HPO: HP:0008800
- **Estenose mitral** — HPO: HP:0001718
- **Hipertrofia ventricular** — HPO: HP:0001714
- **Anquiloglossia** — HPO: HP:0010296
- **Disproporção craniofacial** — HPO: HP:0005461
- **Dispneia de esforço** — HPO: HP:0002875
- **Morfologia anormal da valva aórtica** — HPO: HP:0001646
- **Morfologia anormal da valva mitral** — HPO: HP:0001633
- **Genitália externa masculina hipoplásica** — HPO: HP:0000050
- **Anormalidade generalizada da pele** — HPO: HP:0011354
- **Umbigo proeminente** — HPO: HP:0001544
- **Neoplasia do intestino delgado** — HPO: HP:0100833
- **Anormalidade da vasculatura cerebral** — HPO: HP:0100659
- **Neoplasia da cavidade oral** — HPO: HP:0100649
- **Neoplasia ovariana** — HPO: HP:0100615
- **Neoplasia do pulmão** — HPO: HP:0100526
- _...e mais 639 sintomas. Ver https://raras.org/doenca/sindrome-progeroide._

## Genes associados (18)

- **MTX2** — Metaxin-2 [Disease-causing germline mutation(s) in]
  - Função: Involved in transport of proteins into the mitochondrion
- **ERCC1** — DNA excision repair protein ERCC-1 [Candidate gene tested in]
  - Função: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of in
- **ZMPSTE24** — CAAX prenyl protease 1 homolog [Candidate gene tested in]
  - Função: Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293
- **POLR3A** — DNA-directed RNA polymerase III subunit RPC1 [Disease-causing germline mutation(s) in]
  - Função: Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes
- **BANF1** — Barrier-to-autointegration factor [Disease-causing germline mutation(s) in]
  - Função: Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:109
- **FBN1** — Fibrillin-1 [Disease-causing germline mutation(s) in]
  - Função: 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 (PubMed:15062093, Pub
- **LMNA** — Prelamin-A/C [Disease-causing germline mutation(s) in]
  - Função: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the i
- **BUD13** — BUD13 homolog [Disease-causing germline mutation(s) in]
  - Função: Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs
- **ERCC6** — DNA excision repair protein ERCC-6 [Disease-causing germline mutation(s) in]
  - Função: Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of act
- **ERCC8** — DNA excision repair protein ERCC-8 [Disease-causing germline mutation(s) in]
  - Função: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during
- **TOMM7** — Mitochondrial import receptor subunit TOM7 homolog [Disease-causing germline mutation(s) in]
  - Função: Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546
- **ERCC4** — DNA repair endonuclease XPF [Disease-causing germline mutation(s) in]
  - Função: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand
- **RECQL** — ATP-dependent DNA helicase Q1 [Disease-causing germline mutation(s) in]
  - Função: DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-he
- **SUPT7L** — STAGA complex 65 subunit gamma [Disease-causing germline mutation(s) in]
- **LEMD2** — LEM domain-containing protein 2 [Disease-causing germline mutation(s) in]
  - Função: Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:163

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Wiedemann-Rautenstrauch](https://raras.org/doenca/sindrome-wiedemann-rautenstrauch) — ORPHA:3455 — 187 sintomas em comum
- [Fontaine progeroid syndrome](https://raras.org/doenca/fontaine-progeroid-syndrome) — ORPHA:697101 — 122 sintomas em comum
- [Síndrome progeroide, tipo Petty](https://raras.org/doenca/sindrome-progeroide-tipo-petty) — ORPHA:2963 — 122 sintomas em comum
- [Síndrome Gorlin-Chaudry-Moss](https://raras.org/doenca/sindrome-gorlin-chaudry-moss) — ORPHA:2095 — 122 sintomas em comum
- [Síndrome Cockayne tipo 1](https://raras.org/doenca/sindrome-cockayne-tipo-1) — ORPHA:90321 — 114 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 105 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 103 sintomas em comum
- [Síndrome de progeria Hutchinson-Gilford](https://raras.org/doenca/sindrome-de-progeria-hutchinson-gilford) — ORPHA:740 — 102 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 102 sintomas em comum
- [Síndrome Cockayne tipo 2](https://raras.org/doenca/sindrome-cockayne-tipo-2) — ORPHA:90322 — 102 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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**Citação sugerida**: Raras.org — Síndrome progeroide. Disponível em: https://raras.org/doenca/sindrome-progeroide
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