Požymiai

Su IFT74 susiję požymiai

intraflagellar transport 74

Žmogaus fenotipo ontologija sieja 144 požymių su IFT74, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

IFT74

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed speech and language development	Visada
Global developmental delay	Visada
Increased appetite	Visada
Intellectual disability	Visada
Molar tooth sign on MRI	Visada
Motor delay	Visada
Ataxia	Labai dažnai (80–99%)
Cerebellar vermis hypoplasia	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Cognitive impairment	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Abnormal speech pattern	Kartais (5–29%)
Abnormality of neuronal migration	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Kartais (5–29%)
Breathy speech	Kartais (5–29%)
Can't control feelings	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
More grooves in brain	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Tremor	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally small head	Visada
Almond shaped eyes	Visada
Big calvaria	Visada
Depressed nasal bridge	Visada
Abnormality of the oral cavity	Dažnai (30–79%)
Abnormality of the sense of smell	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Dental crowding	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Cleft of the mouth	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Encephalocele	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Medial flaring of the eyebrow	Kartais (5–29%)
Nasal inflammation	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short neck	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Irregularly shaped sperm tail	Visada
Male infertility	Visada
Short sperm flagella	Visada
Abnormality of the genitourinary system	Dažnai (30–79%)
Chronic kidney disease	Dažnai (30–79%)
Immotile sperm	Dažnai (30–79%)
Low sperm count	Dažnai (30–79%)
Reduced progressive sperm motility	Dažnai (30–79%)
Underdeveloped ovary	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Absent/small vagina	Kartais (5–29%)
Decreased testicular size	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Hydrometrocolpos	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Infertility	Kartais (5–29%)
Lack of bladder control due to nervous system injury	Kartais (5–29%)
Menstrual irregularity	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Nephrotic syndrome	Kartais (5–29%)
Polycystic ovaries	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Breakdown of light-sensitive cells in back of eye	Visada
Macular hypopigmentation	Visada
Rod-cone dystrophy	Visada
Visual impairment	Visada
Cone/cone-rod dystrophy	Labai dažnai (80–99%)
Oculomotor apraxia	Labai dažnai (80–99%)
Abnormal color vision	Dažnai (30–79%)
Abnormal electroretinogram	Dažnai (30–79%)
Blindness	Dažnai (30–79%)
Decreased clarity of vision	Dažnai (30–79%)
Difficulties with night vision	Dažnai (30–79%)
Extreme sensitivity of the eyes to light	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Optic nerve hypoplasia	Dažnai (30–79%)
Astigmatism	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Extra toe attached near the little toe	Visada
More than five fingers or toes on hands or feet	Visada
Postaxial polydactyly	Visada
Short fingers or toes	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Curvature of outermost bone of little finger	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased circulating high-density lipoprotein cholesterol	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Impaired fasting glucose	Dažnai (30–79%)
Increased plasma triglycerides	Dažnai (30–79%)
Body fails to respond to insulin	Kartais (5–29%)
Fatty infiltration of liver	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Dažnai (30–79%)
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Celiac disease	Retai (1–4 %)
Inflammation of the large intestine	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Abnormal vertebral body morphology	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
High blood pressure	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
All organs on wrong side of body	Kartais (5–29%)
Disease of the heart muscle	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Middle ear infection	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Visada
Abnormality of the endocrine system	Kartais (5–29%)
Abnormality of the hypothalamus-pituitary axis	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Birth weight > 90th percentile	Visada
Obesity	Visada
Childhood-onset truncal obesity	Labai dažnai (80–99%)
Short stature	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Labai dažnai (80–99%)
Apnea	Labai dažnai (80–99%)
Episodic tachypnea	Labai dažnai (80–99%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness over body	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 IFT74 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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