Trăsături

Trăsături asociate cu POLR1D

RNA polymerase I and III subunit D

Human Phenotype Ontology asociază 75 trăsături cu POLR1D, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Cheekbone underdevelopment	Foarte des (80–99%)
Decreased size of maxilla	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Open bite	Foarte des (80–99%)
Receding chin	Foarte des (80–99%)
Short face	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Absent eyelashes	Des (30–79%)
Bad bite	Des (30–79%)
Cleft eyelid	Des (30–79%)
Cleft lower eyelid	Des (30–79%)
Cleft palate	Des (30–79%)
Decreased number of teeth	Des (30–79%)
Frontal bossing	Des (30–79%)
Low frontal hairline	Des (30–79%)
Small retruded chin	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Abnormal lacrimal duct morphology	Uneori (5–29%)
Abnormal tooth enamel	Uneori (5–29%)
Abnormality of dental shape	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Branchial fistula	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Cleft of the face	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Encephalocele	Uneori (5–29%)
Eyelid spasm	Uneori (5–29%)
Hair growing down to cheek	Uneori (5–29%)
High palate	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Narrowing of the rear opening of the nasal cavity	Uneori (5–29%)
Pit in front of the ear	Uneori (5–29%)
Retraction of the tongue	Uneori (5–29%)
Skin tag in front of the ear	Uneori (5–29%)
Wide mouth	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the middle ear	Des (30–79%)
Abnormality of the outer ear	Des (30–79%)
Absent ear canal	Des (30–79%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Narrow internal auditory canal	Des (30–79%)
Small ears	Des (30–79%)
Absent ear	Uneori (5–29%)
Fusion of middle ear ossicles	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cat eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal skeletal development	Foarte des (80–99%)
Abnormality of bone mineral density	Foarte des (80–99%)
Abnormality of the vertebral column	Uneori (5–29%)
Multiple enchondromatosis	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Des (30–79%)
Difficulty finding words	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Motor delay	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Small thymus	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between rectum and vagina	Uneori (5–29%)
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Smaller than typical growth of scrotum	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenal abnormalities	Uneori (5–29%)
Small thyroid gland	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory function loss	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)

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 POLR1D și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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