# Síndrome Joubert isolado

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

## Identificadores

- **ORPHA**: 475 — https://www.orpha.net/en/disease/detail/475
- **CID-10**: Q04.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O síndrome de Joubert (JS) é caracterizado por malformação congénita do tronco cerebral e agenesia ou hipoplasia do vérmis cerebeloso levando a um padrão respiratório anormal, nistagmo, hipotonia, ataxia, e atraso no desenvolvimento motor.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (323 fenótipos HPO)

- **Distúrbio da marcha** — HPO: HP:0001288 (Frequente (79-30%))
- **Distrofia de cones/cones e bastonetes** — HPO: HP:0000548
- **Mielinização atrasada do SNC** — HPO: HP:0002188
- **Incisura na linha média do rebordo alveolar superior** — HPO: HP:0009084
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Hipoplasia do trato olfatório** — HPO: HP:0007036
- **Sindactilia** — HPO: HP:0001159
- **Polidactilia mesoaxial** — HPO: HP:0100260
- **Clinodactilia dos dedos** — HPO: HP:0040019
- **Hipoplasia/aplasia renal** — HPO: HP:0008678
- **Criptorquidia bilateral** — HPO: HP:0008689
- **Morfologia anormal do frênulo oral** — HPO: HP:0000190
- **Dificuldades alimentares** — HPO: HP:0011968
- **Contratura articular do 5º dedo** — HPO: HP:0009183
- **Hipopneia** — HPO: HP:0040213
- **Insensibilidade à dor** — HPO: HP:0007021
- **Displasia cerebelar** — HPO: HP:0007033
- **Sobrepeso** — HPO: HP:0025502
- **Corpo caloso displásico** — HPO: HP:0006989
- **Displasia renal policística** — HPO: HP:0000113
- **Incapacidade de andar** — HPO: HP:0002540
- **Ataxia troncular** — HPO: HP:0002078
- **Anomalia de Duane** — HPO: HP:0009921
- **Espasticidade** — HPO: HP:0001257
- **Hiperreflexia** — HPO: HP:0001347
- **Dolicocefalia** — HPO: HP:0000268
- **Sinostose metópica** — HPO: HP:0011330
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Genitália externa masculina hipoplásica** — HPO: HP:0000050
- **Nistagmo rotatório** — HPO: HP:0001583
- **Hipoplasia cerebelar** — HPO: HP:0001321
- **Fenda labial** — HPO: HP:0410030
- **Pan-hipopituitarismo** — HPO: HP:0000871
- **Infecções recorrentes do trato respiratório superior** — HPO: HP:0002788
- **Hipotireoidismo central** — HPO: HP:0011787
- **Corpo caloso fino** — HPO: HP:0033725
- **Anormalidade da regulação da temperatura** — HPO: HP:0004370
- **Displasia renal multicística** — HPO: HP:0000003
- **Sinofris** — HPO: HP:0000664
- **Apneia do sono** — HPO: HP:0010535
- _...e mais 283 sintomas. Ver https://raras.org/doenca/sindrome-joubert-isolado._

## Genes associados (40)

- **CEP41** — Centrosomal protein of 41 kDa [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium
- **KIF7** — Kinesin-like protein KIF7 [Candidate gene tested in]
  - Função: Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-depe
- **TOPORS** — E3 ubiquitin-protein ligase Topors [Candidate gene tested in]
  - Função: Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability thr
- **CC2D2A** — Coiled-coil and C2 domain-containing protein 2A [Disease-causing germline mutation(s) in]
  - Função: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plas
- **TMEM216** — Transmembrane protein 216 [Disease-causing germline mutation(s) in]
  - Função: Essential for primary ciliogenesis and embryonic development, facilitating the activation of Hedgehog (Hh) signaling pathway. Disrupts the interaction of GLI2 and GLI3 with the negative regulator SUFU
- **RPGRIP1L** — Protein fantom [Disease-causing germline mutation(s) in]
  - Função: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, pat
- **NPHP1** — Nephrocystin-1 [Disease-causing germline mutation(s) in]
  - Função: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPH
- **TMEM138** — Transmembrane protein 138 [Disease-causing germline mutation(s) in]
  - Função: Required for ciliogenesis
- **CEP290** — Centrosomal protein of 290 kDa [Disease-causing germline mutation(s) in]
  - Função: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesi
- **TMEM231** — Transmembrane protein 231 [Disease-causing germline mutation(s) in]
  - Função: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the
- **FAM149B1** — Primary cilium assembly protein FAM149B1 [Disease-causing germline mutation(s) in]
  - Função: Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper de
- **TCTN3** — Tectonic-3 [Disease-causing germline mutation(s) in]
  - Função: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary f
- **PIBF1** — Progesterone-induced-blocking factor 1 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in ciliogenesis Pericentriolar protein required to maintain mitotic spindle pole integrity (PubMed:21224392). Required for the centrosomal accumulation of PCM1 and the recruitment of cent
- **CPLANE1** — Ciliogenesis and planar polarity effector 1 [Disease-causing germline mutation(s) in]
  - Função: Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (cil
- **TOGARAM1** — TOG array regulator of axonemal microtubules protein 1 [Disease-causing germline mutation(s) in]
  - Função: Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Interacts with

## Ensaios clínicos ativos (3)

- **NCT01401998** [RECRUITING]: ARPKD Database Study — https://clinicaltrials.gov/study/NCT01401998
- **NCT04874909** [UNKNOWN]: Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) — https://clinicaltrials.gov/study/NCT04874909
- **NCT00873678** [COMPLETED]: Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome — https://clinicaltrials.gov/study/NCT00873678

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Joubert com defeito oculorrenal](https://raras.org/doenca/sindrome-joubert-com-defeito-oculorrenal) — ORPHA:2318 — 117 sintomas em comum
- [Síndrome de Joubert com retinopatia](https://raras.org/doenca/sindrome-de-joubert-com-retinopatia) — ORPHA:220493 — 100 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 86 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 84 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 81 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-apneia-do-sono-obstrutiva-dismorfia-ligeira-ahdc1-relacionada) — ORPHA:412069 — 81 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 79 sintomas em comum
- [Síndrome oro-facio-digital tipo 6](https://raras.org/doenca/sindrome-oro-facio-digital-tipo-6) — ORPHA:2754 — 79 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 — 77 sintomas em comum
- [Síndrome de Joubert com distrofia torácica asfixiante de Jeune](https://raras.org/doenca/sindrome-de-joubert-com-distrofia-toracica-asfixiante-de-jeune) — ORPHA:397715 — 76 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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