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Traits
Traits linked to FGF17
fibroblast growth factor 17
The Human Phenotype Ontology links 74 traits to FGF17, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Decreased testicular size | Visada |
| Primary amenorrhea | Visada |
| Short penis | Visada |
| Abnormal erection | Labai dažnai (80–99%) |
| Absent sperm in semen | Labai dažnai (80–99%) |
| Decreased fertility | Labai dažnai (80–99%) |
| Difficulty getting a full erection | Labai dažnai (80–99%) |
| Increased female sex drive | Labai dažnai (80–99%) |
| Non-obstructive azoospermia | Labai dažnai (80–99%) |
| Underdeveloped penis | Labai dažnai (80–99%) |
| Undescended testes | Labai dažnai (80–99%) |
| Previous menstrual periods stop | Dažnai (30–79%) |
| Small uterus | Dažnai (30–79%) |
| Underdeveloped ovary | Dažnai (30–79%) |
| Abnormal morphology of female internal genitalia | Kartais (5–29%) |
| Absent kidney | Kartais (5–29%) |
| Dyspareunia | Kartais (5–29%) |
| Infertility | Kartais (5–29%) |
Abnormality of the endocrine system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Hypogonadotropic hypogonadism | Visada |
| Absence of pubertal development | Labai dažnai (80–99%) |
| Absence of secondary sex characteristics | Labai dažnai (80–99%) |
| Anterior hypopituitarism | Labai dažnai (80–99%) |
| Decreased function of male gonad | Labai dažnai (80–99%) |
| Decreased serum testosterone level | Labai dažnai (80–99%) |
| Delayed puberty | Labai dažnai (80–99%) |
| Female hypogonadism | Labai dažnai (80–99%) |
| Gonadotropin-releasing hormone deficiency | Labai dažnai (80–99%) |
| Decreased activity of gonads | Neužfiksuota |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Delayed bone maturation | Labai dažnai (80–99%) |
| Low solidness and mass of the bones | Dažnai (30–79%) |
| Osteopenia | Dažnai (30–79%) |
| Osteoporosis | Dažnai (30–79%) |
| Abnormal skeletal development | Kartais (5–29%) |
| Hypermobility of all joints | Kartais (5–29%) |
| Low muscle tone | Kartais (5–29%) |
| Muscle weakness | Kartais (5–29%) |
| Permanent flexion of the finger or toe | Kartais (5–29%) |
| Recurrent fractures | Kartais (5–29%) |
Abnormality of the nervous system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Anxiety | Dažnai (30–79%) |
| Depression | Dažnai (30–79%) |
| Abnormal gait | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Difficulty articulating speech | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
| Hand mirror movements | Kartais (5–29%) |
| Leg paralysis | Kartais (5–29%) |
| Tremor | Kartais (5–29%) |
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Hyposmia | Labai dažnai (80–99%) |
| Lost smell | Labai dažnai (80–99%) |
| Abnormal dentition | Kartais (5–29%) |
| Cleft palate | Kartais (5–29%) |
| Decreased number of teeth | Kartais (5–29%) |
| Depressed nasal bridge | Kartais (5–29%) |
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal color vision | Kartais (5–29%) |
| Drooping upper eyelid | Kartais (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Kartais (5–29%) |
| Visual impairment | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Limited armpit hair | Visada |
| Sparse pubic hair | Visada |
| Sparse body hair | Labai dažnai (80–99%) |
| Ichthyosis | Kartais (5–29%) |
Abnormality of the breast
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Underdeveloped breasts | Labai dažnai (80–99%) |
| Wide-spaced nipples | Labai dažnai (80–99%) |
| Enlarged male breast | Dažnai (30–79%) |
Growth abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Eunuchoid habitus | Labai dažnai (80–99%) |
| Abnormality of body height | Dažnai (30–79%) |
| Obesity | Kartais (5–29%) |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Dropped arches | Kartais (5–29%) |
| High-arched foot | Kartais (5–29%) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Congenital sensorineural hearing impairment | Kartais (5–29%) |
| Sensorineural hearing impairment | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal cardiovascular system morphology | Kartais (5–29%) |
Abnormality of the voice
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the voice | Labai dažnai (80–99%) |
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 FGF17 and how often each is seen. Find out more at hpo.jax.org.
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