Traits

Traits linked to ACTG2

actin gamma 2, smooth muscle

The Human Phenotype Ontology links 50 traits to ACTG2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Intestinal malrotation	Always
Megaduodenum	Always
Microcolon	Always
Abdominal bloating	Very often (80–99%)
Hypoperistalsis	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Abnormality of the gastrointestinal tract	Often (30–79%)
Absent/small abdominal wall muscles	Often (30–79%)
Liver failure	Often (30–79%)
Abdominal situs inversus	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Abdominal pain	Not recorded
Constipation	Not recorded
Diarrhea	Not recorded
Intestinal pseudo-obstruction	Not recorded
Malnutrition	Not recorded
Poor swallowing	Not recorded
Thinning of outer muscular layer of small bowel	Not recorded
Vomiting	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Round face	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Megacystis	Always
Hydroureter	Very often (80–99%)
Vesicoureteral reflux	Very often (80–99%)
Hydronephrosis	Often (30–79%)
Multicystic kidney dysplasia	Often (30–79%)
Undescended testes	Sometimes (5–29%)
Urinary retention	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Portal hypertension	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Heart tumor	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated blood parathyroid hormone level	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Infection in blood stream	Sometimes (5–29%)

Abnormality of the integument

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

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 ACTG2 and how often each is seen. Find out more at hpo.jax.org.

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