AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Traits
Traits linked to IFT74
intraflagellar transport 74
The Human Phenotype Ontology links 144 traits to IFT74, by body system: features seen in people with one of the gene's rare conditions.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Abnormality of the nervous system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Delayed speech and language development | Aina |
| Global developmental delay | Aina |
| Increased appetite | Aina |
| Intellectual disability | Aina |
| Molar tooth sign on MRI | Aina |
| Motor delay | Aina |
| Ataxia | Hyvin usein (80–99%) |
| Cerebellar vermis hypoplasia | Hyvin usein (80–99%) |
| Neurodevelopmental delay | Hyvin usein (80–99%) |
| Abnormal gait | Usein (30–79%) |
| Autism | Usein (30–79%) |
| Behavioral abnormality | Usein (30–79%) |
| Cognitive impairment | Usein (30–79%) |
| Depression | Usein (30–79%) |
| Short attention span | Usein (30–79%) |
| Specific learning disability | Usein (30–79%) |
| Abnormal speech pattern | Joskus (5–29%) |
| Abnormality of neuronal migration | Joskus (5–29%) |
| Anxiety | Joskus (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Joskus (5–29%) |
| Breathy speech | Joskus (5–29%) |
| Can't control feelings | Joskus (5–29%) |
| Epilepsy | Joskus (5–29%) |
| More grooves in brain | Joskus (5–29%) |
| Too much cerebrospinal fluid in the brain | Joskus (5–29%) |
| Tremor | Joskus (5–29%) |
Abnormality of head or neck
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormally small head | Aina |
| Almond shaped eyes | Aina |
| Big calvaria | Aina |
| Depressed nasal bridge | Aina |
| Abnormality of the oral cavity | Usein (30–79%) |
| Abnormality of the sense of smell | Usein (30–79%) |
| Decreased width of the skull | Usein (30–79%) |
| Dental crowding | Usein (30–79%) |
| Failure of development of between one and six teeth | Usein (30–79%) |
| High palate | Usein (30–79%) |
| Long face | Usein (30–79%) |
| Cleft of the mouth | Joskus (5–29%) |
| Decreased size of tooth | Joskus (5–29%) |
| Downward slanting of the opening between the eyelids | Joskus (5–29%) |
| Encephalocele | Joskus (5–29%) |
| Highly arched eyebrow | Joskus (5–29%) |
| Long philtrum | Joskus (5–29%) |
| Medial flaring of the eyebrow | Joskus (5–29%) |
| Nasal inflammation | Joskus (5–29%) |
| Nasal tip, upturned | Joskus (5–29%) |
| Prominent nasal bridge | Joskus (5–29%) |
| Receding chin | Joskus (5–29%) |
| Short neck | Joskus (5–29%) |
Abnormality of the genitourinary system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Irregularly shaped sperm tail | Aina |
| Male infertility | Aina |
| Short sperm flagella | Aina |
| Abnormality of the genitourinary system | Usein (30–79%) |
| Chronic kidney disease | Usein (30–79%) |
| Immotile sperm | Usein (30–79%) |
| Low sperm count | Usein (30–79%) |
| Reduced progressive sperm motility | Usein (30–79%) |
| Underdeveloped ovary | Usein (30–79%) |
| Underdeveloped penis | Usein (30–79%) |
| Absent/small vagina | Joskus (5–29%) |
| Decreased testicular size | Joskus (5–29%) |
| Horseshoe kidney | Joskus (5–29%) |
| Hydrometrocolpos | Joskus (5–29%) |
| Hydronephrosis | Joskus (5–29%) |
| Infertility | Joskus (5–29%) |
| Lack of bladder control due to nervous system injury | Joskus (5–29%) |
| Menstrual irregularity | Joskus (5–29%) |
| Multiple kidney cysts | Joskus (5–29%) |
| Nephrotic syndrome | Joskus (5–29%) |
| Polycystic ovaries | Joskus (5–29%) |
| Undescended testes | Joskus (5–29%) |
| Vesicoureteral reflux | Joskus (5–29%) |
Abnormality of the eye
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Aina |
| Macular hypopigmentation | Aina |
| Rod-cone dystrophy | Aina |
| Visual impairment | Aina |
| Cone/cone-rod dystrophy | Hyvin usein (80–99%) |
| Oculomotor apraxia | Hyvin usein (80–99%) |
| Abnormal color vision | Usein (30–79%) |
| Abnormal electroretinogram | Usein (30–79%) |
| Blindness | Usein (30–79%) |
| Decreased clarity of vision | Usein (30–79%) |
| Difficulties with night vision | Usein (30–79%) |
| Extreme sensitivity of the eyes to light | Usein (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Usein (30–79%) |
| Optic nerve hypoplasia | Usein (30–79%) |
| Astigmatism | Joskus (5–29%) |
| Cat eye | Joskus (5–29%) |
| Clouding of the lens of the eye | Joskus (5–29%) |
| Cross-eyed | Joskus (5–29%) |
| Drooping upper eyelid | Joskus (5–29%) |
| Wide-set eyes | Joskus (5–29%) |
Abnormality of limbs
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Extra toe attached near the little toe | Aina |
| More than five fingers or toes on hands or feet | Aina |
| Postaxial polydactyly | Aina |
| Short fingers or toes | Usein (30–79%) |
| Club feet | Joskus (5–29%) |
| Duplication of bones of the toes | Joskus (5–29%) |
| Extra finger | Joskus (5–29%) |
| Finger syndactyly | Joskus (5–29%) |
| Webbed fingers or toes | Joskus (5–29%) |
| Curvature of outermost bone of little finger | Harvinainen (1–4 %) |
Laboratory abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Usein (30–79%) |
| High liver enzymes | Usein (30–79%) |
| Impaired fasting glucose | Usein (30–79%) |
| Increased plasma triglycerides | Usein (30–79%) |
| Body fails to respond to insulin | Joskus (5–29%) |
| Fatty infiltration of liver | Joskus (5–29%) |
| Noninsulin-dependent diabetes | Joskus (5–29%) |
Abnormality of the digestive system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Feeding difficulties in infancy | Usein (30–79%) |
| Abnormality of the gastrointestinal tract | Joskus (5–29%) |
| Enlarged colon lacking nerve cells | Joskus (5–29%) |
| Hepatic fibrosis | Joskus (5–29%) |
| Celiac disease | Harvinainen (1–4 %) |
| Inflammation of the large intestine | Harvinainen (1–4 %) |
Abnormality of the musculoskeletal system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Low muscle tone | Aina |
| Abnormal vertebral body morphology | Joskus (5–29%) |
| Double-Jointed | Joskus (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Joskus (5–29%) |
| Muscle degeneration | Joskus (5–29%) |
| Scoliosis | Joskus (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| High blood pressure | Usein (30–79%) |
| Abnormal cardiovascular system morphology | Joskus (5–29%) |
| Abnormality of the heart | Joskus (5–29%) |
| All organs on wrong side of body | Joskus (5–29%) |
| Disease of the heart muscle | Harvinainen (1–4 %) |
Abnormality of the ear
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Ears rotated toward back of head | Joskus (5–29%) |
| Hearing impairment | Joskus (5–29%) |
| Large ears | Joskus (5–29%) |
| Low-set ears | Joskus (5–29%) |
| Middle ear infection | Joskus (5–29%) |
Abnormality of the endocrine system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Decreased activity of gonads | Aina |
| Abnormality of the endocrine system | Joskus (5–29%) |
| Abnormality of the hypothalamus-pituitary axis | Joskus (5–29%) |
| Underactive thyroid | Joskus (5–29%) |
Growth abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Birth weight > 90th percentile | Aina |
| Obesity | Aina |
| Childhood-onset truncal obesity | Hyvin usein (80–99%) |
| Short stature | Usein (30–79%) |
Abnormality of the respiratory system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormal pattern of respiration | Hyvin usein (80–99%) |
| Apnea | Hyvin usein (80–99%) |
| Episodic tachypnea | Hyvin usein (80–99%) |
Abnormality of the immune system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Asthma | Joskus (5–29%) |
Abnormality of the integument
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Excessive hairiness over body | Joskus (5–29%) |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Mistä tämä tieto tulee
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to IFT74 and how often each is seen. Find out more at hpo.jax.org.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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