Traits

Traits linked to MME

membrane metalloendopeptidase

The Human Phenotype Ontology links 34 traits to MME, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Decreased sensation in extremities	Always
Unsteady walk	Always
Ataxia	Very often (80–99%)
Balance impairment	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Peripheral axonal neuropathy	Very often (80–99%)
Absent reflexes	Often (30–79%)
Decreased number of large peripheral myelinated nerve fibers	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Limb ataxia	Often (30–79%)
Cerebellar vermis atrophy	Sometimes (5–29%)
Palmomental reflex	Sometimes (5–29%)
Progressive cerebellar ataxia	Sometimes (5–29%)
Dementia	Not recorded
Tremor	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal lower limb amyotrophy	Always
Cogwheel rigidity	Often (30–79%)
Distal muscle wasting	Often (30–79%)
Pigeon chest	Often (30–79%)
Lower limb pain	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Always
Distal upper limb muscle weakness	Very often (80–99%)
Foot drop	Often (30–79%)
High-arched foot	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Glomerular deposits	Very often (80–99%)
Glomerulonephritis	Very often (80–99%)
Nephrotic syndrome	Very often (80–99%)
Renal failure	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Hypometric saccades	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Constitutional symptom

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

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 MME and how often each is seen. Find out more at hpo.jax.org.

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