Traits

Traits linked to NPAP1

nuclear pore associated protein 1

The Human Phenotype Ontology links 91 trait to NPAP1: a feature seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability	Visada
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Self-injurious behavior	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Excessive daytime sleepiness	Dažnai (30–79%)
Impaired pain sensation	Dažnai (30–79%)
Increased appetite	Dažnai (30–79%)
Pauses in breathing while sleeping	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Autism	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Poor fine motor coordination	Kartais (5–29%)
Psychosis	Kartais (5–29%)
Poor gross motor coordination	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Narrow palm	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Radial deviation of finger	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Acromicria	Neužfiksuota
Curvature of digit	Neužfiksuota
Knock knees	Neužfiksuota
Small hand	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Infertility	Labai dažnai (80–99%)
Underdevelopment of external reproductive organs	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Light or infrequent menstrual periods	Dažnai (30–79%)
Short penis	Dažnai (30–79%)
Small clitoris	Dažnai (30–79%)
Underdeveloped inner lips	Dažnai (30–79%)
Primary amenorrhea	Kartais (5–29%)
Smaller than typical growth of scrotum	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Almond shaped eyes	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
Narrow forehead	Dažnai (30–79%)
Narrow nasal bridge	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Dental cavities	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Long, narrow head	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone, in neonatal onset	Visada
Generalized decreased muscle tone	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Abnormal formation of the hip	Dažnai (30–79%)
Decreased muscle mass	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Decreased circulating high-density lipoprotein cholesterol	Dažnai (30–79%)
Elevated serum cholesterol	Dažnai (30–79%)
Fluid retention	Dažnai (30–79%)
Increased plasma triglycerides	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Temperature instability	Kartais (5–29%)
Hyperinsulinemia	Neužfiksuota

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Dažnai (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Kartais (5–29%)
High levels of amniotic fluid	Kartais (5–29%)
Low 1-minute APGAR score	Kartais (5–29%)
Low 5-minute APGAR score	Kartais (5–29%)
Low levels of amniotic fluid	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight in infancy	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Class III obesity	Dažnai (30–79%)
Obesity	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)
Abdominal obesity	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased response to growth hormone stimulation test	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Delayed puberty	Dažnai (30–79%)
Adrenal insufficiency	Retai (1–4 %)
Early onset of puberty	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Labai dažnai (80–99%)
Poor suck	Labai dažnai (80–99%)
Tube feeding	Labai dažnai (80–99%)
Chronic constipation	Dažnai (30–79%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Close sighted	Kartais (5–29%)
Inward turning cross eyed	Kartais (5–29%)
Cross-eyed	Neužfiksuota
Farsightedness	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Photosensitive skin	Dažnai (30–79%)
Frontal upsweep of hair	Kartais (5–29%)
Fair skin	Neužfiksuota

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Slow breathing	Neužfiksuota

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Nasal speech	Dažnai (30–79%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NPAP1 and how often each is seen. Find out more at hpo.jax.org.

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