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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga KNSTRN seotud tunnused
kinetochore localized astrin (SPAG5) binding protein
Inimese fenotüübi ontoloogia seostab geeniga KNSTRN 76 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal facial shape | Sageli (30–79%) |
| Abnormality of the chin | Sageli (30–79%) |
| Baggy eyes | Sageli (30–79%) |
| Broad nasal tip | Sageli (30–79%) |
| Chronic oral thrush | Sageli (30–79%) |
| Decreased volume of lower lip | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Flattened bony protrusion above eyes | Sageli (30–79%) |
| Fullness of eyelids | Sageli (30–79%) |
| High forehead | Sageli (30–79%) |
| Low hairline at back of neck | Sageli (30–79%) |
| Myopathic facies | Sageli (30–79%) |
| Narrowing of the tear duct | Sageli (30–79%) |
| Nasal tip, upturned | Sageli (30–79%) |
| Wide nasal bridge | Sageli (30–79%) |
| Flat forehead | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| Short neck | Pole registreeritud |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Combined immunodeficiency | Sageli (30–79%) |
| Decreased specific antibody response to vaccination | Sageli (30–79%) |
| Psoriasiform dermatitis | Sageli (30–79%) |
| Recurrent aspiration pneumonia | Sageli (30–79%) |
| Recurrent bacterial infections | Sageli (30–79%) |
| Recurrent ear infections | Sageli (30–79%) |
| Recurrent fungal infections | Sageli (30–79%) |
| Recurrent viral infections | Sageli (30–79%) |
| Pneumonia | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad middle finger bones | Sageli (30–79%) |
| Curvature of index finger | Sageli (30–79%) |
| Curvature of middle finger | Sageli (30–79%) |
| Curvature of ring finger | Sageli (30–79%) |
| High-arched foot | Sageli (30–79%) |
| Short outermost bone of the thumb | Sageli (30–79%) |
| Short long bone of foot | Pole registreeritud |
| Shortened long bone of hand | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ataxia | Sageli (30–79%) |
| Generalized myoclonic seizure | Sageli (30–79%) |
| Global developmental delay | Sageli (30–79%) |
| Intellectual disability | Sageli (30–79%) |
| Intention tremor | Sageli (30–79%) |
| Positive Romberg sign | Sageli (30–79%) |
| Ventriculomegaly | Sageli (30–79%) |
| Disorder of involuntary muscle movements | Pole registreeritud |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chronic decreased circulating IgA concentration | Sageli (30–79%) |
| Decreased anti-CD3/28-induced T-cell proliferation | Sageli (30–79%) |
| Decreased circulating antibody level | Sageli (30–79%) |
| Decreased circulating IgM concentration | Sageli (30–79%) |
| Decreased circulating total IgG concentration | Sageli (30–79%) |
| Decreased mitogen-induced T-cell proliferation | Sageli (30–79%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the skeletal system | Sageli (30–79%) |
| Arthritis | Sageli (30–79%) |
| Cone-shaped end part of bone | Sageli (30–79%) |
| Low muscle tone, in neonatal onset | Sageli (30–79%) |
| Osteopenia | Sageli (30–79%) |
| Prominent swayback | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal T cell subset number | Sageli (30–79%) |
| Decreased total CD4+ T cell proportion | Sageli (30–79%) |
| Low B cell count | Sageli (30–79%) |
| Reduced total natural killer cell count | Sageli (30–79%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acid reflux | Sageli (30–79%) |
| Nasogastric tube feeding | Sageli (30–79%) |
| Umbilical hernia | Sageli (30–79%) |
| Diarrhea | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Deeply set eye | Sageli (30–79%) |
| Optic nerve hypoplasia | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Optic atrophy | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent kidney on one side | Sageli (30–79%) |
| Frequent urinary tract infections | Sageli (30–79%) |
| Abnormal kidney location | Pole registreeritud |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hair growth | Sageli (30–79%) |
| Patchy darkened skin | Sageli (30–79%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Sageli (30–79%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Aberrant right subclavian artery | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prominent ear | Sageli (30–79%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Neonatal respiratory distress | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga KNSTRN seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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