Trăsături

Trăsături asociate cu ANAPC1

anaphase promoting complex subunit 1

Human Phenotype Ontology asociază 74 trăsături cu ANAPC1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ANAPC1

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Poikiloderma	Întotdeauna
Abnormal blistering of the skin	Des (30–79%)
Atypical nail growth	Des (30–79%)
Birthmark	Des (30–79%)
Hyperkeratosis	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Patchy lightened skin	Des (30–79%)
Skin degeneration	Des (30–79%)
Sparse hair	Des (30–79%)
Alopecia totalis	Uneori (5–29%)
Poor nail formation	Uneori (5–29%)
Skin cancer	Uneori (5–29%)
Thin nail	Uneori (5–29%)
Basal cell carcinoma	Rar (1–4%)
Porokeratosis	Rar (1–4%)
Squamous cell carcinoma	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal dentition	Des (30–79%)
Absent eyebrow	Des (30–79%)
Absent eyelashes	Des (30–79%)
Abnormal tooth enamel	Uneori (5–29%)
Cone shaped tooth	Uneori (5–29%)
Decreased number of teeth	Uneori (5–29%)
Decreased size of tooth	Uneori (5–29%)
Delayed eruption of teeth	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Facial puffiness	Uneori (5–29%)
Sparse or absent eyebrows	Uneori (5–29%)
Sparse or absent eyelashes	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Metaphyseal striations	Uneori (5–29%)
Plantar hyperkeratosis	Uneori (5–29%)
Abnormal ulnar metaphysis morphology	Rar (1–4%)
Abnormality of the radial head	Rar (1–4%)
Absent kneecap	Rar (1–4%)
Fused finger bones	Rar (1–4%)
Increased bone density in wide portion of long bone	Rar (1–4%)
Outward bow-leggedness	Rar (1–4%)
Short finger bones	Rar (1–4%)
Shortened long bone of hand	Rar (1–4%)
Small kneecap	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Multiple skeletal anomalies	Des (30–79%)
Abnormal trabecular bone morphology	Uneori (5–29%)
Bone fracture	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Bone cell cancer	Rar (1–4%)
Calcium buildup in soft tissues of body	Rar (1–4%)
Osteopenia	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low blood neutrophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Aplastic anemia	Rar (1–4%)
Blood cancer	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Diarrhea	Uneori (5–29%)
Functional abnormality of the gastrointestinal tract	Uneori (5–29%)
Nasogastric tube feeding	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Decreased function of male gonad	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Attention deficit	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Small for gestational age	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Blushed cheeks	Des (30–79%)
Spider veins	Des (30–79%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Juvenile cataract	Întotdeauna
Clouding of the lens of the eye at birth	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Early menopause	Des (30–79%)
Undescended testes	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Recurrent middle ear infection	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of immune system physiology	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 ANAPC1 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