Traits

Traits linked to MIA3

MIA SH3 domain ER export factor 3

The Human Phenotype Ontology links 26 traits to MIA3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Delayed eruption of permanent teeth	Always
Dentinogenesis imperfecta	Always
Prominent nasal bridge	Always
Early tooth loss	Often (30–79%)
Gum disease	Often (30–79%)
Receding chin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Large knee	Always
Short finger bones	Always
Cone-shaped end part of finger bones	Often (30–79%)
Short toe	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Always
Osteopenia	Often (30–79%)
Scoliosis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Obesity	Always
Proportionate short stature	Always

Laboratory abnormality

Trait	How often it is seen
Type 1 diabetes	Always
High urine albumin levels	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hydronephrosis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Always

Abnormality of the integument

Trait	How often it is seen
Itching	Always

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, mild	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 MIA3 and how often each is seen. Find out more at hpo.jax.org.

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