Rare diseases · Sign or symptom
Pain
HP:0012531
What it means
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
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 this74
Very common80–99%
10Common30–79%
33- Amyotrophic lateral sclerosis
- Anaplastic thyroid carcinoma
- Antiphospholipid syndrome
- Autoerythrocyte sensitization syndrome
- Autosomal dominant optic atrophy and cataract
- Bacterial toxic-shock syndrome
- Ependymoma
- Epidermal nevus syndrome
- Full schwannomatosis
- Hereditary angioedema with C1Inh deficiency
- IgA pemphigus
- IgG4-related pachymeningitis
- Kaposiform hemangioendothelioma
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- Lymphatic filariasis
- Multiple osteochondromas
- Oculopharyngeal muscular dystrophy
- Oromandibular dystonia
- Osteosarcoma
- O'Sullivan-McLeod syndrome
- Paraparetic variant of Guillain-Barré syndrome
- Pellagra
- Pemphigus vegetans
- POEMS syndrome
- Porphyria cutanea tarda
- Snakebite envenomation
- Spinocerebellar ataxia type 43
- Subacute inflammatory demyelinating polyneuropathy
- Subependymoma
- Systemic sclerosis
- Vulvovaginal gingival syndrome
- Wild type ABeta2M amyloidosis
- Zygomycosis
Sometimes5–29%
28- 17q11microdeletion syndrome
- Angiostrongyliasis
- Atrophoderma vermiculata
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal spastic paraplegia type 72
- Benign schwannoma
- Bickerstaff brainstem encephalitis
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
and 20 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 3 diseases 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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.