Požymiai

Su NIPBL susiję požymiai

NIPBL cohesin loading factor

Žmogaus fenotipo ontologija sieja 165 požymių su NIPBL, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Thick eyebrow	Visada
Abnormally small head	Labai dažnai (80–99%)
Boxer's nasal deformity	Labai dažnai (80–99%)
Broad head shape	Labai dažnai (80–99%)
Broad nasal tip	Labai dažnai (80–99%)
Curly eyelashes	Labai dažnai (80–99%)
Decreased volume of lip	Labai dažnai (80–99%)
Delayed eruption of teeth	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Downturned corners of mouth	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Highly arched eyebrow	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long eyelashes	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Low frontal hairline	Labai dažnai (80–99%)
Low hairline at back of neck	Labai dažnai (80–99%)
Monobrow	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Thin red part of the upper lip	Labai dažnai (80–99%)
Widely spaced teeth	Labai dažnai (80–99%)
Inflammation of eyelids	Dažnai (30–79%)
Narrowing of the tear duct	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Increased nuchal translucency	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Cleft upper lip	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short foot	Visada
Attachment of thumb close to wrist	Labai dažnai (80–99%)
Fused toes	Labai dažnai (80–99%)
Shortened 1st long bone of hand	Labai dažnai (80–99%)
Small hand	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Bilateral single transverse palmar creases	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Elbow dislocation	Dažnai (30–79%)
Fused forearm bones	Dažnai (30–79%)
Limited elbow extension	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Webbed fingers or toes	Dažnai (30–79%)
Abnormal morphology of ulna	Kartais (5–29%)
Curvature of digit	Kartais (5–29%)
Duplication of big toe bone	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Oligodactyly	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Talipes	Kartais (5–29%)
Phocomelia	Retai (1–4 %)
Absent fingers	Neužfiksuota
Dislocated radial head	Neužfiksuota
Elbow flexion contracture	Neužfiksuota
Hypoplastic radial head	Neužfiksuota
Underdeveloped outer large forearm bone	Neužfiksuota
Webbed 2nd and 3rd toes	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed CNS myelination	Visada
Motor delay	Visada
Repetitive movements	Visada
Abnormally low-pitched voice	Labai dažnai (80–99%)
Attention deficit	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Intellectual disability, severe	Labai dažnai (80–99%)
Abnormal speech pattern	Dažnai (30–79%)
Aggressive behavior	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Self-injurious behavior	Dažnai (30–79%)
Absent/small cerebellum	Kartais (5–29%)
Autism	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Coronal hypospadias	Visada
Hydronephrosis	Visada
Hypospadias	Dažnai (30–79%)
Multicystic kidney dysplasia	Dažnai (30–79%)
Small labia majora	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Abnormality of the uterus	Kartais (5–29%)
Cystic kidney disease	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Primary amenorrhea	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Small kidneys	Kartais (5–29%)
Abnormal kidney location	Neužfiksuota
Reduced renal corticomedullary differentiation	Neužfiksuota
Small male external genitalia	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Poor suck	Visada
Acid reflux	Labai dažnai (80–99%)
Absent anus	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Anteriorly placed anus	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Volvulus	Kartais (5–29%)
Malrotation of colon	Neužfiksuota
Stomach hernia	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Close sighted	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Phthisis bulbi	Dažnai (30–79%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Astigmatism	Neužfiksuota
Bulging eye	Neužfiksuota
Optic atrophy	Neužfiksuota
Optic disc coloboma	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Spasticity and rigidity of muscles	Visada
Delayed bone maturation	Labai dažnai (80–99%)
Joint stiffness	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Permanent flexion of the finger or toe	Kartais (5–29%)
Extra ribs	Neužfiksuota
Short sternum	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cutis marmorata	Dažnai (30–79%)
Heart murmur	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Tetralogy of Fallot	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Absent ear canal	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Abnormal incisura morphology	Neužfiksuota
Middle ear infection	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay as children	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Severe growth delay in children	Dažnai (30–79%)
Truncal obesity	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)
Prenatal movement abnormality	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness over body	Labai dažnai (80–99%)
Excessive hairiness	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low platelet count	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Small nipples	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Pneumonia	Neužfiksuota

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak cry	Visada

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High urine protein levels	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su NIPBL susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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