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	Kui sageli seda täheldatakse
Flattened vertebrae	Väga sageli (80–99%)
Abnormal deposits of calcium in the brain	Sageli (30–79%)
Barrel-shaped chest	Sageli (30–79%)
Excessive inward curvature of lower spine	Sageli (30–79%)
Increased intervertebral space	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Short pelvis bones	Sageli (30–79%)
Arthritis	Mõnikord (5–29%)
Disproportionate short-trunked short stature	Mõnikord (5–29%)
Enchondroma	Mõnikord (5–29%)
Juvenile idiopathic arthritis	Mõnikord (5–29%)
Lower limb pain	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Small wings of the pelvic girdle	Mõnikord (5–29%)
Hunched back	Harva (1–4%)
Pigeon chest	Harva (1–4%)
Irregular vertebral endplates	Pole registreeritud
Kyphoscoliosis	Pole registreeritud
Progressive spastic quadriplegia	Pole registreeritud
Rheumatoid arthritis	Pole registreeritud
Spastic diplegia	Pole registreeritud
Spondylometaphyseal dysplasia	Pole registreeritud

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Antinuclear antibody positivity	Väga sageli (80–99%)
Anti-dsDNA antibody positivity	Sageli (30–79%)
Autoimmunity	Sageli (30–79%)
Granuloma	Mõnikord (5–29%)
Recurrent infections	Mõnikord (5–29%)
Recurrent respiratory infections	Mõnikord (5–29%)
Systemic lupus erythematosus	Mõnikord (5–29%)
Pneumonia	Harva (1–4%)
Skin rash	Harva (1–4%)
Cellular immunodeficiency	Pole registreeritud
Combined immunodeficiency	Pole registreeritud
Immune dysregulation	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Brain imaging abnormality	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Abnormal lateral ventricle morphology	Mõnikord (5–29%)
Abnormal periventricular white matter morphology	Mõnikord (5–29%)
Abnormality of the nervous system	Mõnikord (5–29%)
Chorea	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Headache	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Epilepsy	Harva (1–4%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Midface retrusion	Sageli (30–79%)
Bad bite	Mõnikord (5–29%)
Delayed eruption of teeth	Mõnikord (5–29%)
Dense bone of skull base	Mõnikord (5–29%)
Frontal bossing	Mõnikord (5–29%)
Tall shaped head	Mõnikord (5–29%)
Narrow nose	Pole registreeritud
Recurrent sinus disease	Pole registreeritud

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Autoimmune thrombocytopenia	Sageli (30–79%)
Decreased blood lymphocyte number	Sageli (30–79%)
Low blood neutrophil count	Sageli (30–79%)
Autoimmune hemolytic anemia	Mõnikord (5–29%)
Low blood cell count	Harva (1–4%)
Blood spots	Pole registreeritud
Low T cell count	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Broad wide portion of long bone	Alati
Metaphyseal dysplasia	Väga sageli (80–99%)
Bowed legs	Mõnikord (5–29%)
Limb undergrowth	Mõnikord (5–29%)
Short outermost finger bone	Mõnikord (5–29%)
Increased bone density in wide portion of long bone	Pole registreeritud
Irregular wide portion of a long bone	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
High blood pressure	Mõnikord (5–29%)
Inflammation of blood vessel	Mõnikord (5–29%)
Raynaud phenomenon	Mõnikord (5–29%)
Swollen lymph nodes	Pole registreeritud

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Blotchy loss of skin color	Harva (1–4%)
Hyperpigmented skin patches	Pole registreeritud
Patchy loss of skin color on arms	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Joint swelling	Sageli (30–79%)
Blood in urine	Mõnikord (5–29%)
High urine protein levels	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Low-set ears	Pole registreeritud
Recurrent middle ear infection	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased response to growth hormone stimulation test	Harva (1–4%)
Underactive thyroid	Harva (1–4%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Chronic kidney disease	Sageli (30–79%)
Tubulointerstitial fibrosis	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Liver inflammation	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Stiff lung or chest wall causing decreased lung volume	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Muscle ache	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test