Tunnused

Geeniga PRR12 seotud tunnused

proline rich 12

Inimese fenotüübi ontoloogia seostab geeniga PRR12 73 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Sageli (30–79%)
Blocked tear duct	Sageli (30–79%)
Broad opening between the eyelids	Sageli (30–79%)
Deep bite	Sageli (30–79%)
Distichiasis	Sageli (30–79%)
Downturned corners of mouth	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Eyelids stay open	Sageli (30–79%)
Highly arched eyebrow	Sageli (30–79%)
Hooded upper eyelid	Sageli (30–79%)
Long eyelashes	Sageli (30–79%)
Midface retrusion	Sageli (30–79%)
Monobrow	Sageli (30–79%)
Prominent brow	Sageli (30–79%)
Receding chin	Sageli (30–79%)
Short uvula	Sageli (30–79%)
Submucous cleft hard palate	Sageli (30–79%)
Thick eyebrow	Sageli (30–79%)
Tongue tied	Sageli (30–79%)
Torus palatinus	Sageli (30–79%)
Widely spaced teeth	Sageli (30–79%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Outward facing eye ball	Alati
Stellate iris	Alati
Abnormally small eyeball	Sageli (30–79%)
Blue eyes	Sageli (30–79%)
Cat eye	Sageli (30–79%)
Close sighted	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Lazy eye	Sageli (30–79%)
Lens coloboma	Sageli (30–79%)
Peters anomaly	Sageli (30–79%)
Speckled iris	Sageli (30–79%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Hypoplasia of the fovea	Mõnikord (5–29%)
Remnants of the hyaloid vascular system	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed speech and language development	Alati
Intellectual disability	Alati
Motor delay	Alati
Anxiety	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Brisk reflexes	Sageli (30–79%)
Difficulty falling asleep	Sageli (30–79%)
Excessive daytime sleepiness	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Obstructive sleep apnea	Sageli (30–79%)
Periventricular leukomalacia	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Back knee	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Deep palm line	Sageli (30–79%)
Dropped arches	Sageli (30–79%)
Finger joint hyperextensibility	Sageli (30–79%)
Prominent fingertip pads	Sageli (30–79%)
Tapered finger	Sageli (30–79%)
Tibial torsion	Sageli (30–79%)
Winged shoulder blade	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Cupped ear	Sageli (30–79%)
Deafness in one ear	Sageli (30–79%)
Earlobe crease	Sageli (30–79%)
Low-set ears	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Small nail	Sageli (30–79%)
Spinal dimple	Sageli (30–79%)
Brittle hair	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Funnel chest	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent foramen ovale	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Umbilical hernia	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)

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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga PRR12 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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