Rare diseases · Sign or symptom
Respiratory failure
HP:0002878
What it means
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this93
Very common80–99%
9- Acute interstitial pneumonia
- GATA2 deficiency spectrum
- Hepatic veno-occlusive disease
- Imperforate oropharynx-costovertebral anomalies syndrome
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Oculocerebrofacial syndrome, Kaufman type
- Pontocerebellar hypoplasia type 1
- Radio-renal syndrome
Common30–79%
29- Acute lung injury
- Adult acute respiratory distress syndrome
- Amyotrophic lateral sclerosis
- Autosomal recessive polycystic kidney disease
- Congenital tricuspid valve dysplasia
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Ear-patella-short stature syndrome
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Hereditary butyrylcholinesterase deficiency
- Infantile neurovisceral acid sphingomyelinase deficiency
- Intermediate nemaline myopathy
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Lethal acantholytic erosive disorder
- Mercury poisoning
- Multiple mitochondrial dysfunctions syndrome type 2
- Multiple mitochondrial dysfunctions syndrome type 3
- NAD(P)HX epimerase deficiency
- Osteosclerotic bone dysplasia
- Pediatric acute respiratory distress syndrome
- Pneumocystosis
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Severe congenital nemaline myopathy
- Staphylococcal necrotizing pneumonia
- Thoracic dysplasia-hydrocephalus syndrome
- TK2-related mitochondrial DNA maintenance defect, myopathic form
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Ulbright-Hodes syndrome
- Ullrich congenital muscular dystrophy
Sometimes5–29%
42- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ALG1-CDG
- Arterial tortuosity syndrome
- Asbestos intoxication
- Avian influenza
- Bickerstaff brainstem encephalitis
- Combined oxidative phosphorylation defect type 23
- Congenital fiber-type disproportion myopathy
and 34 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.