Traits

Traits linked to ARMC5

armadillo repeat containing 5

The Human Phenotype Ontology links 42 traits to ARMC5, by body system: features seen in people with one of the gene's rare conditions.

ARMC5

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating ACTH concentration	Always
Macronodular adrenal hyperplasia	Always
Increased circulating cortisol level	Very often (80–99%)
Abnormal response to corticotropin releasing hormone stimulation test	Often (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Often (30–79%)
Elevated plasma aldosterone	Rarely (1–4%)
Neuroendocrine neoplasm	Rarely (1–4%)
Noncancerous tumor in pituitary gland	Rarely (1–4%)
Primary hyperparathyroidism	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Can't control feelings	Often (30–79%)
Depression	Often (30–79%)
Manic	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Psychotic episodes	Sometimes (5–29%)
Cognitive impairment	Rarely (1–4%)
Noncancerous growth of membranes covering brain	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Buffalo hump	Often (30–79%)
Excessive hairiness	Often (30–79%)
Plethora	Often (30–79%)
Stretch marks	Often (30–79%)
Hair loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High urine cortisol level	Always
Elevated lipids in blood	Often (30–79%)
Glucose intolerance	Often (30–79%)
Fatty infiltration of liver	Sometimes (5–29%)
High blood sugar	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal libido	Often (30–79%)
Kidney stone	Often (30–79%)
Menstrual irregularity	Often (30–79%)
Cancer starting in small tubes in kidneys	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Wasting of muscles near the body	Often (30–79%)
Increased susceptibility to fractures	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Moon face	Very often (80–99%)
Round face	Not recorded

Growth abnormality

Trait	How often it is seen
Abdominal obesity	Often (30–79%)
Increased body weight	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)

Abnormality of the immune system

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

Constitutional symptom

Trait	How often it is seen
Fatigue	Not recorded

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 ARMC5 and how often each is seen. Find out more at hpo.jax.org.

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