# Síndrome de displasia ectodérmica hipohidrótica-imunodeficiência-osteopetrose-linfedema

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

## Identificadores

- **ORPHA**: 69088 — https://www.orpha.net/en/disease/detail/69088
- **CID-10**: Q78.2
- **OMIM**: OMIM:300301 — https://omim.org/entry/300301

## Descrição clínica

Este síndrome é caracterizado por imunodeficiência, osteopetrose, linfedema grave e displasia ectodérmica anidrótica.

## Epidemiologia e herança

- **Prevalência**: <1 / 1 000 000
- **Casos conhecidos**: 2
- **Padrão de herança**: X-linked recessive

## Genes associados (1)

- **IKBKG** — NF-kappa-B essential modulator [Disease-causing germline mutation(s) in]
  - Função: Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhi

## Ensaios clínicos ativos (5)

- **NCT07089836** [RECRUITING]: This Study Evaluates the ALPCO Syphilis-T and Syphilis-NT CLIA Kits for Detecting Syphilis Antibodies in Serum and Plasma. Samples From At-risk, HIV-positive, Pregnant, and Healthy Individuals Will Assess Assay Performance Versus Established Comparator Tests. — https://clinicaltrials.gov/study/NCT07089836
- **NCT02974595** [RECRUITING]: Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) — https://clinicaltrials.gov/study/NCT02974595
- **NCT07269483** [RECRUITING]: A Study Assessing Adult Patients Referred to an NHS Sleep Service With Suspected Obstructive Sleep Apnoea. This Study Aims to Compare the Sunrise Wearable Diagnostic Device Performance and Potential Inclusion in a NHS Diagnostic Pathway With Oximetry and WatchPAT Which Are Currently Used. — https://clinicaltrials.gov/study/NCT07269483
- **NCT06086301** [COMPLETED]: Pilot Testing PICTURE-THIS — https://clinicaltrials.gov/study/NCT06086301
- **NCT04703348** [COMPLETED]: The Complex Regional Pain Syndrome (CRPS) is a Chronic Pain Condition. This is a Preliminary Study to Explore and Test Clinical Hypothesis. They Suppose That CRPS Patients Have Impairment in Their Mental or Motor Imagery Abilities. — https://clinicaltrials.gov/study/NCT04703348

## 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 de displasia ectodérmica hipohidrótica-imunodeficiência-osteopetrose-linfedema. Disponível em: https://raras.org/doenca/sindrome-de-displasia-ectodermica-hipohidrotica-imunodeficiencia-osteopetrose-linfedema
**Formato HTML**: https://raras.org/doenca/sindrome-de-displasia-ectodermica-hipohidrotica-imunodeficiencia-osteopetrose-linfedema
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=69088