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Tunnused
Geeniga NIPBL seotud tunnused
NIPBL cohesin loading factor
Inimese fenotüübi ontoloogia seostab geeniga NIPBL 165 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 |
|---|---|
| Thick eyebrow | Alati |
| Abnormally small head | Väga sageli (80–99%) |
| Boxer's nasal deformity | Väga sageli (80–99%) |
| Broad head shape | Väga sageli (80–99%) |
| Broad nasal tip | Väga sageli (80–99%) |
| Curly eyelashes | Väga sageli (80–99%) |
| Decreased volume of lip | Väga sageli (80–99%) |
| Delayed eruption of teeth | Väga sageli (80–99%) |
| Depressed nasal bridge | Väga sageli (80–99%) |
| Downturned corners of mouth | Väga sageli (80–99%) |
| High palate | Väga sageli (80–99%) |
| Highly arched eyebrow | Väga sageli (80–99%) |
| Little lower jaw | Väga sageli (80–99%) |
| Long eyelashes | Väga sageli (80–99%) |
| Long philtrum | Väga sageli (80–99%) |
| Low frontal hairline | Väga sageli (80–99%) |
| Low hairline at back of neck | Väga sageli (80–99%) |
| Monobrow | Väga sageli (80–99%) |
| Nasal tip, upturned | Väga sageli (80–99%) |
| Short neck | Väga sageli (80–99%) |
| Short nose | Väga sageli (80–99%) |
| Thin red part of the upper lip | Väga sageli (80–99%) |
| Widely spaced teeth | Väga sageli (80–99%) |
| Inflammation of eyelids | Sageli (30–79%) |
| Narrowing of the tear duct | Sageli (30–79%) |
| Smooth philtrum | Sageli (30–79%) |
| Blockage of the rear opening of the nasal cavity | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Increased nuchal translucency | Mõnikord (5–29%) |
| Narrow forehead | Mõnikord (5–29%) |
| Cleft upper lip | Pole registreeritud |
Abnormality of limbs
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed CNS myelination | Alati |
| Motor delay | Alati |
| Repetitive movements | Alati |
| Abnormally low-pitched voice | Väga sageli (80–99%) |
| Attention deficit | Väga sageli (80–99%) |
| Delayed speech and language development | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Intellectual disability, severe | Väga sageli (80–99%) |
| Abnormal speech pattern | Sageli (30–79%) |
| Aggressive behavior | Sageli (30–79%) |
| Anxiety | Sageli (30–79%) |
| Autism spectrum disorder | Sageli (30–79%) |
| Difficulty sleeping | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Obsessive compulsive behavior | Sageli (30–79%) |
| Self-injurious behavior | Sageli (30–79%) |
| Absent/small cerebellum | Mõnikord (5–29%) |
| Autism | Mõnikord (5–29%) |
| Decrease in size of the outer layer of the brain due to loss of brain cells | Mõnikord (5–29%) |
| Peripheral neuropathy | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Coronal hypospadias | Alati |
| Hydronephrosis | Alati |
| Hypospadias | Sageli (30–79%) |
| Multicystic kidney dysplasia | Sageli (30–79%) |
| Small labia majora | Sageli (30–79%) |
| Underdeveloped penis | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Vesicoureteral reflux | Sageli (30–79%) |
| Abnormality of the uterus | Mõnikord (5–29%) |
| Cystic kidney disease | Mõnikord (5–29%) |
| Horseshoe kidney | Mõnikord (5–29%) |
| Primary amenorrhea | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Small kidneys | Mõnikord (5–29%) |
| Abnormal kidney location | Pole registreeritud |
| Reduced renal corticomedullary differentiation | Pole registreeritud |
| Small male external genitalia | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Poor suck | Alati |
| Acid reflux | Väga sageli (80–99%) |
| Absent anus | Sageli (30–79%) |
| Feeding difficulties | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Anteriorly placed anus | Mõnikord (5–29%) |
| Inguinal hernia | Mõnikord (5–29%) |
| Intestinal malrotation | Mõnikord (5–29%) |
| Pyloric stenosis | Mõnikord (5–29%) |
| Volvulus | Mõnikord (5–29%) |
| Malrotation of colon | Pole registreeritud |
| Stomach hernia | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Close sighted | Sageli (30–79%) |
| Cornea of eye less than 10mm in diameter | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Phthisis bulbi | Sageli (30–79%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Glaucoma | Mõnikord (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
| Astigmatism | Pole registreeritud |
| Bulging eye | Pole registreeritud |
| Optic atrophy | Pole registreeritud |
| Optic disc coloboma | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Spasticity and rigidity of muscles | Alati |
| Delayed bone maturation | Väga sageli (80–99%) |
| Joint stiffness | Sageli (30–79%) |
| Abnormal formation of the hip | Mõnikord (5–29%) |
| Congenital diaphragmatic hernia | Mõnikord (5–29%) |
| Funnel chest | Mõnikord (5–29%) |
| Low muscle tone | Mõnikord (5–29%) |
| Permanent flexion of the finger or toe | Mõnikord (5–29%) |
| Extra ribs | Pole registreeritud |
| Short sternum | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cutis marmorata | Sageli (30–79%) |
| Heart murmur | Sageli (30–79%) |
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Enlarged heart | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Narrowing of pulmonic valve | Mõnikord (5–29%) |
| Patent foramen ovale | Mõnikord (5–29%) |
| Tetralogy of Fallot | Harva (1–4%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent ear canal | Väga sageli (80–99%) |
| Conductive deafness | Sageli (30–79%) |
| Ears rotated toward back of head | Sageli (30–79%) |
| Low-set ears | Sageli (30–79%) |
| Sensorineural hearing impairment | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
| Large ears | Mõnikord (5–29%) |
| Abnormal incisura morphology | Pole registreeritud |
| Middle ear infection | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay as children | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
| Faltering weight | Sageli (30–79%) |
| Prenatal growth deficiency | Sageli (30–79%) |
| Severe growth delay in children | Sageli (30–79%) |
| Truncal obesity | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Premature birth | Sageli (30–79%) |
| Prenatal movement abnormality | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hairiness over body | Väga sageli (80–99%) |
| Excessive hairiness | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low platelet count | Pole registreeritud |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Small nipples | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed puberty | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pneumonia | Pole registreeritud |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Weak cry | Alati |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High urine protein levels | Mõnikord (5–29%) |
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 NIPBL seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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