# Situs inversus totalis

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

## Identificadores

- **ORPHA**: 101063 — https://www.orpha.net/en/disease/detail/101063
- **CID-10**: Q89.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma condição de nascença em que os principais órgãos do peito e da barriga estão em uma posição completamente invertida, como se fossem um reflexo no espelho da posição normal.

## Epidemiologia e herança


## Genes associados (10)

- **CFAP52** — Cilia- and flagella-associated protein 52 [Disease-causing germline mutation(s) in]
  - Função: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation
- **NME7** — Nucleoside diphosphate kinase 7 [Disease-causing germline mutation(s) in]
  - Função: Possesses an intrinsic kinase activity (PubMed:24807905, PubMed:34764205). Phosphorylates GSK3B at 'Ser-9', leading to the activation of Wnt/beta-catenin signaling (PubMed:34764205). Additionally, exh
- **CIROP** — Ciliated left-right organizer metallopeptidase [Disease-causing germline mutation(s) in]
  - Função: Putative metalloproteinase that plays a role in left-right patterning process
- **NODAL** — Nodal homolog [Disease-causing germline mutation(s) in]
  - Função: Essential for mesoderm formation and axial patterning during embryonic development
- **CFAP53** — Cilia- and flagella-associated protein 53 [Disease-causing germline mutation(s) in]
  - Função: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of
- **DNAH9** — Dynein axonemal heavy chain 9 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules (PubMed:30471717, PubMed:30471718
- **CITED2** — Cbp/p300-interacting transactivator 2 [Major susceptibility factor in]
  - Função: Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimu
- **MMP21** — Matrix metalloproteinase-23 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity)
- **PKD1L1** — Polycystin-1-like protein 1 [Disease-causing germline mutation(s) in]
  - Função: Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regul
- **ANKS3** — Ankyrin repeat and SAM domain-containing protein 3 [Disease-causing germline mutation(s) in]
  - Função: May be involved in vasopressin signaling in the kidney

## 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 — Situs inversus totalis. Disponível em: https://raras.org/doenca/situs-inversus-totalis
**Formato HTML**: https://raras.org/doenca/situs-inversus-totalis
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=101063