Trăsături

Trăsături asociate cu PIGV

phosphatidylinositol glycan anchor biosynthesis class V

Human Phenotype Ontology asociază 91 trăsături cu PIGV, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PIGV

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Broad nasal tip	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Broad opening between the eyelids	Des (30–79%)
Tented mouth	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Abnormal parietal bone morphology	Uneori (5–29%)
Asymmetry of the posterior head	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Broad philtrum	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Decreased head circumference	Uneori (5–29%)
Eye folds	Uneori (5–29%)
High palate	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Increased head circumference	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Round face	Uneori (5–29%)
Short neck	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Midface retrusion	Neînregistrat
Short nose	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Epilepsy	Foarte des (80–99%)
Grand mal seizures	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
EEG with polyspike wave complexes	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Jerking	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Neînregistrat
Delayed myelination	Neînregistrat
Involuntary writhing movements in fingers, hands, toes, and feet	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short outermost finger bone	Întotdeauna
Shortening of all outermost bones of the fingers	Foarte des (80–99%)
Delayed maturation of wrist bone	Des (30–79%)
Curvature of digit	Uneori (5–29%)
Short toe	Uneori (5–29%)
Tapered finger	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the rectum	Des (30–79%)
Anteriorly placed anus	Des (30–79%)
Constipation	Des (30–79%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Increased size of eyes	Des (30–79%)
Farsightedness	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Shallow anterior chamber	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Decreased muscle tone in infant	Foarte des (80–99%)
Abnormal formation of the hip	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Cupped ear	Uneori (5–29%)
Thickened helices	Uneori (5–29%)
Hearing impairment	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)
Only one artery in umbilical cord instead of two	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Spider veins	Uneori (5–29%)
Abnormality of the heart	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hydronephrosis	Uneori (5–29%)
Abnormally shaped kidney	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Small nail	Des (30–79%)
Increased nail curvature	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Accessory nipple	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated alkaline phosphatase	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PIGV și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu