Traits

Traits linked to ACP5

acid phosphatase 5, tartrate resistant

The Human Phenotype Ontology links 88 traits to ACP5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flattened vertebrae	Very often (80–99%)
Abnormal deposits of calcium in the brain	Often (30–79%)
Barrel-shaped chest	Often (30–79%)
Excessive inward curvature of lower spine	Often (30–79%)
Increased intervertebral space	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Short pelvis bones	Often (30–79%)
Arthritis	Sometimes (5–29%)
Disproportionate short-trunked short stature	Sometimes (5–29%)
Enchondroma	Sometimes (5–29%)
Juvenile idiopathic arthritis	Sometimes (5–29%)
Lower limb pain	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Small wings of the pelvic girdle	Sometimes (5–29%)
Hunched back	Rarely (1–4%)
Pigeon chest	Rarely (1–4%)
Irregular vertebral endplates	Not recorded
Kyphoscoliosis	Not recorded
Progressive spastic quadriplegia	Not recorded
Rheumatoid arthritis	Not recorded
Spastic diplegia	Not recorded
Spondylometaphyseal dysplasia	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Very often (80–99%)
Anti-dsDNA antibody positivity	Often (30–79%)
Autoimmunity	Often (30–79%)
Granuloma	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)
Systemic lupus erythematosus	Sometimes (5–29%)
Pneumonia	Rarely (1–4%)
Skin rash	Rarely (1–4%)
Cellular immunodeficiency	Not recorded
Combined immunodeficiency	Not recorded
Immune dysregulation	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Brain imaging abnormality	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Abnormal lateral ventricle morphology	Sometimes (5–29%)
Abnormal periventricular white matter morphology	Sometimes (5–29%)
Abnormality of the nervous system	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Epilepsy	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Often (30–79%)
Bad bite	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Dense bone of skull base	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Tall shaped head	Sometimes (5–29%)
Narrow nose	Not recorded
Recurrent sinus disease	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune thrombocytopenia	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Low blood neutrophil count	Often (30–79%)
Autoimmune hemolytic anemia	Sometimes (5–29%)
Low blood cell count	Rarely (1–4%)
Blood spots	Not recorded
Low T cell count	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad wide portion of long bone	Always
Metaphyseal dysplasia	Very often (80–99%)
Bowed legs	Sometimes (5–29%)
Limb undergrowth	Sometimes (5–29%)
Short outermost finger bone	Sometimes (5–29%)
Increased bone density in wide portion of long bone	Not recorded
Irregular wide portion of a long bone	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Inflammation of blood vessel	Sometimes (5–29%)
Raynaud phenomenon	Sometimes (5–29%)
Swollen lymph nodes	Not recorded

Abnormality of the integument

Trait	How often it is seen
Blotchy loss of skin color	Rarely (1–4%)
Hyperpigmented skin patches	Not recorded
Patchy loss of skin color on arms	Not recorded

Laboratory abnormality

Trait	How often it is seen
Joint swelling	Often (30–79%)
Blood in urine	Sometimes (5–29%)
High urine protein levels	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded
Recurrent middle ear infection	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Rarely (1–4%)
Underactive thyroid	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Chronic kidney disease	Often (30–79%)
Tubulointerstitial fibrosis	Not recorded

Abnormality of the digestive system

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

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Not recorded

Constitutional symptom

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

Growth abnormality

Trait	How often it is seen
Short stature	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 ACP5 and how often each is seen. Find out more at hpo.jax.org.

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