Traits

Traits linked to ECM1

extracellular matrix protein 1

The Human Phenotype Ontology links 36 traits to ECM1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Very often (80–99%)
Firm lump under the skin	Very often (80–99%)
Papule	Very often (80–99%)
Thickened skin	Very often (80–99%)
Hyperkeratosis	Often (30–79%)
Warts	Often (30–79%)
Skin erosion	Sometimes (5–29%)
Skin plaque	Sometimes (5–29%)
Papillary dermis eosinophilic hyaline material	Not recorded
Patchy baldness	Not recorded
Reduced epidermal extracellular matrix protein 1 protein expression	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Multiple eyelid beaded papules	Always
Abnormality of lining of mouth	Very often (80–99%)
Abnormality of the gums	Very often (80–99%)
Full lower lip	Very often (80–99%)
Tongue nodules	Very often (80–99%)
Abnormally small tongue	Often (30–79%)
Absence of scalp hair	Often (30–79%)
High palate	Often (30–79%)
Nasal polyposis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dystonia	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Aggressive behavior	Not recorded
Hallucinations	Not recorded
Memory impairment	Not recorded
Paranoia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scarring	Very often (80–99%)
Temporal lobe calcification	Often (30–79%)
Abnormal deposits of calcium in the brain	Sometimes (5–29%)
Bilateral intracerebral calcifications	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Acne	Very often (80–99%)
Pimple	Very often (80–99%)
Recurrent respiratory infections	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ECM1 and how often each is seen. Find out more at hpo.jax.org.

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