# Síndrome Perrault tipo 2

> Página oficial: https://raras.org/doenca/sindrome-perrault-tipo-2
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 642976 — https://www.orpha.net/en/disease/detail/642976
- **OMIM**: OMIM:614926 — https://omim.org/entry/614926

## Descrição clínica

Síndrome de Perrault que é causada por uma mutação no gene HARS2.

## Epidemiologia e herança


## Sinais e sintomas (4 fenótipos HPO)

- **Amenorreia** — HPO: HP:0000141 (Frequência: 3/3)
- **Ovário em fita** — HPO: HP:0010464 (Frequência: 3/3)
- **Deficiência auditiva neurossensorial** — HPO: HP:0000407 (Frequência: 5/5)
- **Herança autossômica recessiva** — HPO: HP:0000007

## Genes associados (9)

- **HSD17B4** — Peroxisomal multifunctional enzyme type 2 [Disease-causing germline mutation(s) in]
  - Função: Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce
- **PRORP** — Mitochondrial ribonuclease P catalytic subunit [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158, P
- **GGPS1** — Geranylgeranyl pyrophosphate synthase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins
- **RMND1** — Required for meiotic nuclear division protein 1 homolog [Disease-causing germline mutation(s) in]
  - Função: Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853)
- **LARS2** — Leucine--tRNA ligase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the attachment of leucine to its cognate tRNA
- **TWNK** — Twinkle mtDNA helicase [Disease-causing germline mutation(s) in]
  - Função: Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550)
- **CLPP** — ATP-dependent Clp protease proteolytic subunit, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Protease component of the ClpXP complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The ClpXP complex can degrade CSN1S1,
- **HARS2** — D-aminoacyl-tRNA deacylase 1 [Disease-causing germline mutation(s) in]
  - Função: Possible ATPase (PubMed:15653697) involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes (PubMed:20065034) An aminoacyl-tRNA editing enzyme that deacylates mischar
- **ERAL1** — GTPase Era, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' termi

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Perrault](https://raras.org/doenca/sindrome-perrault) — ORPHA:2855 — 3 sintomas em comum
- [Síndrome Woodhouse-Sakati](https://raras.org/doenca/sindrome-woodhouse-sakati) — ORPHA:3464 — 3 sintomas em comum
- [Síndrome H](https://raras.org/doenca/sindrome-h) — ORPHA:168569 — 3 sintomas em comum
- [Adeno-hipofisite linfocítica](https://raras.org/doenca/adeno-hipofisite-linfocitica) — ORPHA:95512 — 2 sintomas em comum
- [Síndrome Sheehan](https://raras.org/doenca/sindrome-sheehan) — ORPHA:91355 — 2 sintomas em comum
- [Histiocitose sinusal com linfadenopatia maciça](https://raras.org/doenca/histiocitose-sinusal-com-linfadenopatia-macica) — ORPHA:158014 — 2 sintomas em comum
- [Síndrome Fuhrmann](https://raras.org/doenca/sindrome-fuhrmann) — ORPHA:2854 — 2 sintomas em comum
- [Síndrome LIG4](https://raras.org/doenca/sindrome-lig4) — ORPHA:99812 — 2 sintomas em comum
- [NÃO RARA NA EUROPA: Hemocromatose tipo 1](https://raras.org/doenca/nao-rara-na-europa-hemocromatose-tipo-1) — ORPHA:139498 — 2 sintomas em comum
- [Hemocromatose TFR2-relacionada](https://raras.org/doenca/hemocromatose-tfr2-relacionada) — ORPHA:225123 — 2 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 Perrault tipo 2. Disponível em: https://raras.org/doenca/sindrome-perrault-tipo-2
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