Trăsături

Trăsături asociate cu FREM2

FRAS1 related extracellular matrix 2

Human Phenotype Ontology asociază 86 trăsături cu FREM2, 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
Absent tear duct	Foarte des (80–99%)
Cryptophthalmos	Foarte des (80–99%)
Malformed tear ducts	Foarte des (80–99%)
Abnormal of nasal shape	Des (30–79%)
Bad bite	Des (30–79%)
Cleft tongue	Des (30–79%)
Dental crowding	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Cleft nostril	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Cranial defect	Uneori (5–29%)
Encephalocele	Uneori (5–29%)
High palate	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Midline nasal groove	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Short neck	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Wide nose	Uneori (5–29%)
Adhesion of eyelids	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Ambiguous external genitalia	Întotdeauna
Absent/small kidney	Foarte des (80–99%)
Urinary tract abnormalities	Foarte des (80–99%)
Abnormal vagina morphology	Des (30–79%)
Abnormally closed or absent vagina	Des (30–79%)
Absent bladder	Des (30–79%)
Bilateral renal agenesis	Des (30–79%)
Female pseudohermaphroditism	Des (30–79%)
Smaller than typical growth of scrotum	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Absent kidney	Uneori (5–29%)
Absent kidney on one side	Uneori (5–29%)
Heart shaped uterus	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Ureteral agenesis	Uneori (5–29%)
Urethral atresia	Uneori (5–29%)
Small kidneys	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent anus	Des (30–79%)
Anorectal anomaly	Des (30–79%)
Narrowing of anal opening	Des (30–79%)
Abnormal anus position	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Rectal atresia	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Abdominal bloating	Neînregistrat

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%)
Abnormally shaped ears	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Absent ear canal	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Small ears	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Laryngeal hypoplasia	Des (30–79%)
Laryngeal stenosis	Des (30–79%)
Abnormal lung lobation	Uneori (5–29%)
Hypoplasia of the epiglottis	Uneori (5–29%)
Narrowing of windpipe	Uneori (5–29%)
Poorly developed lungs	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Subglottic stenosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blindness	Foarte des (80–99%)
Abnormally small eyeball	Des (30–79%)
Absence of eyeballs	Des (30–79%)
Wide-set eyes	Des (30–79%)
Glaucoma	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Cutaneous syndactyly	Foarte des (80–99%)
Finger syndactyly	Foarte des (80–99%)
Fused toes	Des (30–79%)
Limb undergrowth	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Shorter than typical length between neck and abdomen	Uneori (5–29%)
Vertebral segmentation defect	Uneori (5–29%)
Abnormality of the ribs	Rar (1–4%)
Wide pubic symphysis	Rar (1–4%)

Abnormality of the cardiovascular system

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Uneori (5–29%)
Myelomeningocele	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal hair pattern	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 FREM2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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