Rare diseases · Sign or symptom
Respiratory failure requiring assisted ventilation
HP:0004887
What it means
A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
Rare diseases that can present with this28
Common30–79%
9- Congenital tricuspid valve dysplasia
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Hereditary pulmonary alveolar proteinosis
- Herpes simplex virus encephalitis
- Lethal ataxia with deafness and optic atrophy
- Pneumocystosis
- Pontocerebellar hypoplasia type 4
- Sporadic Creutzfeldt-Jakob disease
- X-linked centronuclear myopathy
Sometimes5–29%
15- Acute disseminated encephalomyelitis
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Bickerstaff brainstem encephalitis
- Brachytelephalangic chondrodysplasia punctata
- Chronic visceral acid sphingomyelinase deficiency
- Congenital total pulmonary venous return anomaly
- Diffuse alveolar hemorrhage
- Dihydropyrimidine dehydrogenase deficiency
and 7 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Respiratory distress necessitating mechanical ventilation · Respiratory distress requiring endotracheal intubation · Respiratory distress requiring mechanical ventilation
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.