Trăsături

Trăsături asociate cu KNSTRN

kinetochore localized astrin (SPAG5) binding protein

Human Phenotype Ontology asociază 76 trăsături cu KNSTRN, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

KNSTRN

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Des (30–79%)
Abnormality of the chin	Des (30–79%)
Baggy eyes	Des (30–79%)
Broad nasal tip	Des (30–79%)
Chronic oral thrush	Des (30–79%)
Decreased volume of lower lip	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Flattened bony protrusion above eyes	Des (30–79%)
Fullness of eyelids	Des (30–79%)
High forehead	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Myopathic facies	Des (30–79%)
Narrowing of the tear duct	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Flat forehead	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Short neck	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Combined immunodeficiency	Des (30–79%)
Decreased specific antibody response to vaccination	Des (30–79%)
Psoriasiform dermatitis	Des (30–79%)
Recurrent aspiration pneumonia	Des (30–79%)
Recurrent bacterial infections	Des (30–79%)
Recurrent ear infections	Des (30–79%)
Recurrent fungal infections	Des (30–79%)
Recurrent viral infections	Des (30–79%)
Pneumonia	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad middle finger bones	Des (30–79%)
Curvature of index finger	Des (30–79%)
Curvature of middle finger	Des (30–79%)
Curvature of ring finger	Des (30–79%)
High-arched foot	Des (30–79%)
Short outermost bone of the thumb	Des (30–79%)
Short long bone of foot	Neînregistrat
Shortened long bone of hand	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Intention tremor	Des (30–79%)
Positive Romberg sign	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Disorder of involuntary muscle movements	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Chronic decreased circulating IgA concentration	Des (30–79%)
Decreased anti-CD3/28-induced T-cell proliferation	Des (30–79%)
Decreased circulating antibody level	Des (30–79%)
Decreased circulating IgM concentration	Des (30–79%)
Decreased circulating total IgG concentration	Des (30–79%)
Decreased mitogen-induced T-cell proliferation	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of the skeletal system	Des (30–79%)
Arthritis	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Osteopenia	Des (30–79%)
Prominent swayback	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal T cell subset number	Des (30–79%)
Decreased total CD4+ T cell proportion	Des (30–79%)
Low B cell count	Des (30–79%)
Reduced total natural killer cell count	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Nasogastric tube feeding	Des (30–79%)
Umbilical hernia	Des (30–79%)
Diarrhea	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Des (30–79%)
Optic nerve hypoplasia	Des (30–79%)
Wide-set eyes	Des (30–79%)
Optic atrophy	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Absent kidney on one side	Des (30–79%)
Frequent urinary tract infections	Des (30–79%)
Abnormal kidney location	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Des (30–79%)
Patchy darkened skin	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Aberrant right subclavian artery	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Prominent ear	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Neonatal respiratory distress	Des (30–79%)

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

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