Gen
FGFR3
fibroblast growth factor receptor 3
- HGNC 3690(åbnes i en ny fane)
- Ensembl-gen ENSG00000068078(åbnes i en ny fane)
- NCBI Gene 2261(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 4p16.3
- Koordinater
- Kromosom 4: 1.793.293–1.808.867 (GRCh38)
- Exoner
- 18 exoner fordelt over 15,6 kb
- Protein
- 806 aminosyrer
- Arvelighed
- Autosomal dominant
- Også kendt som
- CEK2, JTK4, CD333
- Tidligere symboler
- ACH
- MANE Select-transkript
- ENST00000440486.8NM_000142.5
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs FGFR3 og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
FGFR3-relaterede kondrodysplasier (achondroplasi og beslægtede tilstande)
- FGFR3-relateret kondrodysplasiAutosomal dominant
Skeletdysplasier forårsaget af gain-of-function-varianter i FGFR3, hvor de fleste opstår som nye (de novo) varianter og ikke er arvet fra en forælder. Næsten al achondroplasi skyldes én enkelt variant, p.Gly380Arg.
- ClinGen vurderer forbindelsen som definitivt
- 6 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Specialistopfølgning overvåger komplikationer såsom indsnævring ved bunden af kraniet og rygsøjlen, og vosoritid er godkendt til at forbedre væksten hos børn med achondroplasi.
Syndromisk kraniosynostose
Tilstande, der kombinerer for tidlig lukning af kranie-sømme med andre træk, herunder Apert-, Crouzon-, Pfeiffer-, Muenke- og Saethre-Chotzen-syndromerne, forårsaget af gener som FGFR2, FGFR3, FGFR1, TWIST1, TCF12 og ERF.
- ClinGen vurderer forbindelsen som definitivt
- 6 GenCC-indsendere vurderer den som definitiv eller stærk
Hvad viden ændrer
Tidlig diagnose giver mulighed for rettidig operation og overvågning af hovedets vækst, syn og hørelse; mildere former såsom Muenke-syndrom kan blive uopdaget hos voksne, hvilket er relevant for familieplanlægning.
Arvegang
- Autosomal dominant
- Én ændret kopi, fra enten far eller mor, er nok. En forælder med én ændret kopi overfører den til hvert barn med en chance på en ud af to.
Sådan er FGFR3 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 4,3 kb af genets 15,6 kb; 2.421 af disse baser koder for proteinet.
Sådan læser en genomtest FGFR3
52
positioner i FGFR3, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 15,6 kb af FGFR3, inklusive introner, og ikke kun de 4,3 kb eksoner.
Træk knyttet til FGFR3
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, FGFR3 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of head or neck
- Absent lacrimal punctum
- Absent tear duct
- Big calvaria
- Cloverleaf cranium shape
- Cone shaped tooth
- Dental cavities
- Depressed nasal bridge
- Frontal bossing
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- High palate
- Little foramen magnum
- Midface retrusion
- Narrowing of the rear opening of the nasal cavity
- Pink eye
- Prominent forehead
- Short neck
- Unopened tear duct
- Abnormal dentition
- Abnormality of the skull
- Aplasia/Hypoplasia of the mandible
- Broad forehead
- Broad head shape
- Coronal craniosynostosis
- Decreased size of tooth
- Deformity of the skull
- Facial asymmetry
- Failure of development of between one and six teeth
- Flat face
- High forehead
- Abnormal lacrimal duct morphology
- Abnormal lacrimal gland morphology
- Abnormal tooth enamel
- Abnormality of the midface
- Abnormality of the salivary glands
- Abnormally small head
- Asymmetry of the posterior head
- Beaked nose
- Blockage of the rear opening of the nasal cavity
- Decreased salivary flow
- Decreased size of maxilla
- Delayed cranial suture closure
- Downward slanting of the opening between the eyelids
- Dry eye syndrome
- Eyelid spasm
- Flattened bony protrusion above eyes
- High, narrow palate
- Increased nuchal translucency
- Low frontal hairline
- Narrow palate
- Narrowing of the tear duct
- Nasal tip, upturned
- Open bite
- Parietal bossing
- Prominent nasal bridge
- Short nasal bridge
- Tall shaped head
- Wider-than-typical soft spot of skull
- Zygomatic flattening
- Abnormal facial shape
- Abnormality of the palate
- Absent tear gland
- Bifid uvula
- Cleft palate
- Encephalocele
- Eye folds
- Holes in parietal bones
- Hypoplasia of the lacrimal punctum
- Keratoconjunctivitis
- Thin dental enamel
- Cleft of the mouth
- Little lower jaw
- Lost smell
- Bad bite
- Small face
- Temporal bossing
Abnormality of limbs
- Bowed legs
- Bowed thighbone
- Bowing of outer large bone of the forearm
- Curving of inner forearm bone
- Disproportionately short upper portion of limb
- Duplication of thumb phalanx
- Flared wide portion of long bone
- Long slender fingers
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- Short thighbone
- Smaller or shorter than typical limbs
- Trident hand
- Abnormality of lower limb joint
- Abnormality of the wide portion of a long bone
- Bowing of the long bones
- Curvature of little finger
- Finger syndactyly
- Limb undergrowth
- Metaphyseal chondrodysplasia
- Permanent flexion of the finger
- Short fingers or toes
- Short toe
- Split hand
- Abnormal shape of long bones of hand
- Abnormality of fingers or toes
- Abnormality of the elbow
- Abnormality of the thighbone
- Bilateral single transverse palmar creases
- Bowed calf bone
- Bowed shankbone
- Broad big toe
- Broad thumb
- Cone-shaped end part of finger bones
- Fused ankle bones
- Fused wrist bones
- Hip joint hypermobility
- Knee joint over-flexibility
- Limited elbow extension
- Outward bow-leggedness
- Short foot
- Short middle bone of finger
- Short neck of thighbone
- Short palm
- Short proximal phalanx of finger
- Thimble-shaped middle bones of hand
- Abnormality of the thumb
- Absent thumb
- Broad toe
- Bunion
- Curvature of digit
- Disproportionately short middle portion of limb
- Duplication of the outermost bone of big toe
- Excessive wrinkled skin of palms and soles
- Finger-like thumb
- Flat acetabular roof
- Fused forearm bones
- Fused long bones of hand
- Fused toes
- Proximal radio-ulnar synostosis
- Short thumb
- Underdeveloped outer large forearm bone
- Webbed fingers or toes
- Absent/small extremities
- Broad wide portion of thigh bone
- Camptodactyly of toe
- Capitate-hamate fusion
- Irregular wide portion of a long bone
- Radial deviation of finger
- Short middle bones (feet)
Abnormality of the musculoskeletal system
- Flattened vertebrae
- Hypoplastic pelvis
- Narrow chest
- Narrow greater sciatic notch
- Narrow vertebral interpedicular distance
- Scoliosis
- Severe platyspondyly
- Short long bone
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- Short ribs
- Small chest
- Widened interpedicular distance
- Abnormal sacroiliac joint morphology
- Abnormal skeletal development
- Abnormal vertebral body morphology
- Double-Jointed
- Hunched back
- Low muscle tone
- Permanent flexion of the finger or toe
- Short greater sciatic notch
- Shorter than typical length between neck and abdomen
- Small wings of the pelvic girdle
- Thoracolumbar kyphosis
- Abnormal collarbone
- Abnormal shape of pelvic girdle bone
- Cervical spinal canal stenosis
- Cone-shaped end part of bone
- Decreased muscle tone in infant
- Excessive inward curvature of lower spine
- Formation of new noncancerous bone on top of existing bone
- Narrow spinal canal
- Prominent swayback
- Abnormal iliac wing morphology
- Abnormal sacrum morphology
- Degenerative joint disease
- Joint stiffness
- Limitation of joint mobility
- Arthritis
- Craniocervical junction constriction
- Funnel chest
- Hunched back in infancy
- Hypermobility of all joints
- Increased vertebral height
- Limited hip extension
- Osteochondroma
- Small abnormally formed shoulder blade
- Spinal stenosis with reduced interpedicular distance
- Wide-cupped costochondral junctions
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- Too much cerebrospinal fluid in the brain
- Underdevelopment of part of brain called corpus callosum
- Brain degeneration
- Cognitive impairment
- Enlarged cerebellum
- Generalized-onset seizure
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- Intellectual disability, severe
- IQ less than 20
- Severe global developmental delay
- Absent/small cerebellum
- Central sleep apnea
- Chiari malformation
- Epilepsy
- Focal impaired awareness seizure
- Obstructive sleep apnea
- Rise in pressure inside skull
- Temporal lobe dysplasia
- Ventriculomegaly
- Abnormality of neuronal migration
- Attention deficit
- Enlarged brain
- Gray matter heterotopia
- Headache
- Holoprosencephaly
- IQ between 34 and 49
- Migraine
- Pauses in breathing while sleeping
- Small cerebellum
- Brain stem compression
- Motor delay
Abnormality of the eye
- Absence of tears in the eyes
- Bulging eye
- Abnormality of the eye
- Cross-eyed
- Drooping upper eyelid
- Increased tears
- Inflammatory abnormality of the eye
- Outward facing eye ball
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- Wide-set eyes
- Abnormally close eyes
- Corneal ulceration
- Decreased corneal sensation
- Lazy eye
- Limbal stem cell deficiency
- New blood vessel formation in cornea
- Optic atrophy
- Recurrent breakdown of clear protective layer of eye
- Severe near sightedness
- Visual impairment
- Increased corneal thickness
- Open angle glaucoma
Abnormality of the integument
- Darkened and thickened skin
- Loose redundant skin
- Excessive wrinkled skin
- Abnormal hair pattern
- Hyperpigmented skin patches
- Loss of hair color
- Patchy loss of skin color
- Skin tags
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Growth abnormality
- Disproportionate short-limb short stature
- Severe short stature
- Tall stature
- Childhood onset short-limb short stature
- Disproportionate short stature
- Lethal short-limbed short stature
- Short stature
- Obesity
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Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). FGFR3-genet: fibroblast growth factor receptor 3. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/fgfr3
Dante Labs. FGFR3-genet: fibroblast growth factor receptor 3 [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/fgfr3
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger