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Tunnused
Geeniga IFT74 seotud tunnused
intraflagellar transport 74
Inimese fenotüübi ontoloogia seostab geeniga IFT74 144 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed speech and language development | Alati |
| Global developmental delay | Alati |
| Increased appetite | Alati |
| Intellectual disability | Alati |
| Molar tooth sign on MRI | Alati |
| Motor delay | Alati |
| Ataxia | Väga sageli (80–99%) |
| Cerebellar vermis hypoplasia | Väga sageli (80–99%) |
| Neurodevelopmental delay | Väga sageli (80–99%) |
| Abnormal gait | Sageli (30–79%) |
| Autism | Sageli (30–79%) |
| Behavioral abnormality | Sageli (30–79%) |
| Cognitive impairment | Sageli (30–79%) |
| Depression | Sageli (30–79%) |
| Short attention span | Sageli (30–79%) |
| Specific learning disability | Sageli (30–79%) |
| Abnormal speech pattern | Mõnikord (5–29%) |
| Abnormality of neuronal migration | Mõnikord (5–29%) |
| Anxiety | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Mõnikord (5–29%) |
| Breathy speech | Mõnikord (5–29%) |
| Can't control feelings | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| More grooves in brain | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Almond shaped eyes | Alati |
| Big calvaria | Alati |
| Depressed nasal bridge | Alati |
| Abnormality of the oral cavity | Sageli (30–79%) |
| Abnormality of the sense of smell | Sageli (30–79%) |
| Decreased width of the skull | Sageli (30–79%) |
| Dental crowding | Sageli (30–79%) |
| Failure of development of between one and six teeth | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Long face | Sageli (30–79%) |
| Cleft of the mouth | Mõnikord (5–29%) |
| Decreased size of tooth | Mõnikord (5–29%) |
| Downward slanting of the opening between the eyelids | Mõnikord (5–29%) |
| Encephalocele | Mõnikord (5–29%) |
| Highly arched eyebrow | Mõnikord (5–29%) |
| Long philtrum | Mõnikord (5–29%) |
| Medial flaring of the eyebrow | Mõnikord (5–29%) |
| Nasal inflammation | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Prominent nasal bridge | Mõnikord (5–29%) |
| Receding chin | Mõnikord (5–29%) |
| Short neck | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Irregularly shaped sperm tail | Alati |
| Male infertility | Alati |
| Short sperm flagella | Alati |
| Abnormality of the genitourinary system | Sageli (30–79%) |
| Chronic kidney disease | Sageli (30–79%) |
| Immotile sperm | Sageli (30–79%) |
| Low sperm count | Sageli (30–79%) |
| Reduced progressive sperm motility | Sageli (30–79%) |
| Underdeveloped ovary | Sageli (30–79%) |
| Underdeveloped penis | Sageli (30–79%) |
| Absent/small vagina | Mõnikord (5–29%) |
| Decreased testicular size | Mõnikord (5–29%) |
| Horseshoe kidney | Mõnikord (5–29%) |
| Hydrometrocolpos | Mõnikord (5–29%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Infertility | Mõnikord (5–29%) |
| Lack of bladder control due to nervous system injury | Mõnikord (5–29%) |
| Menstrual irregularity | Mõnikord (5–29%) |
| Multiple kidney cysts | Mõnikord (5–29%) |
| Nephrotic syndrome | Mõnikord (5–29%) |
| Polycystic ovaries | Mõnikord (5–29%) |
| Undescended testes | Mõnikord (5–29%) |
| Vesicoureteral reflux | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Alati |
| Macular hypopigmentation | Alati |
| Rod-cone dystrophy | Alati |
| Visual impairment | Alati |
| Cone/cone-rod dystrophy | Väga sageli (80–99%) |
| Oculomotor apraxia | Väga sageli (80–99%) |
| Abnormal color vision | Sageli (30–79%) |
| Abnormal electroretinogram | Sageli (30–79%) |
| Blindness | Sageli (30–79%) |
| Decreased clarity of vision | Sageli (30–79%) |
| Difficulties with night vision | Sageli (30–79%) |
| Extreme sensitivity of the eyes to light | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Optic nerve hypoplasia | Sageli (30–79%) |
| Astigmatism | Mõnikord (5–29%) |
| Cat eye | Mõnikord (5–29%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Wide-set eyes | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Extra toe attached near the little toe | Alati |
| More than five fingers or toes on hands or feet | Alati |
| Postaxial polydactyly | Alati |
| Short fingers or toes | Sageli (30–79%) |
| Club feet | Mõnikord (5–29%) |
| Duplication of bones of the toes | Mõnikord (5–29%) |
| Extra finger | Mõnikord (5–29%) |
| Finger syndactyly | Mõnikord (5–29%) |
| Webbed fingers or toes | Mõnikord (5–29%) |
| Curvature of outermost bone of little finger | Harva (1–4%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Sageli (30–79%) |
| High liver enzymes | Sageli (30–79%) |
| Impaired fasting glucose | Sageli (30–79%) |
| Increased plasma triglycerides | Sageli (30–79%) |
| Body fails to respond to insulin | Mõnikord (5–29%) |
| Fatty infiltration of liver | Mõnikord (5–29%) |
| Noninsulin-dependent diabetes | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties in infancy | Sageli (30–79%) |
| Abnormality of the gastrointestinal tract | Mõnikord (5–29%) |
| Enlarged colon lacking nerve cells | Mõnikord (5–29%) |
| Hepatic fibrosis | Mõnikord (5–29%) |
| Celiac disease | Harva (1–4%) |
| Inflammation of the large intestine | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Alati |
| Abnormal vertebral body morphology | Mõnikord (5–29%) |
| Double-Jointed | Mõnikord (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Mõnikord (5–29%) |
| Muscle degeneration | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High blood pressure | Sageli (30–79%) |
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| Abnormality of the heart | Mõnikord (5–29%) |
| All organs on wrong side of body | Mõnikord (5–29%) |
| Disease of the heart muscle | Harva (1–4%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Mõnikord (5–29%) |
| Hearing impairment | Mõnikord (5–29%) |
| Large ears | Mõnikord (5–29%) |
| Low-set ears | Mõnikord (5–29%) |
| Middle ear infection | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased activity of gonads | Alati |
| Abnormality of the endocrine system | Mõnikord (5–29%) |
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
| Underactive thyroid | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Birth weight > 90th percentile | Alati |
| Obesity | Alati |
| Childhood-onset truncal obesity | Väga sageli (80–99%) |
| Short stature | Sageli (30–79%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal pattern of respiration | Väga sageli (80–99%) |
| Apnea | Väga sageli (80–99%) |
| Episodic tachypnea | Väga sageli (80–99%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Asthma | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hairiness over body | 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 IFT74 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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