Gen
FGFR1
fibroblast growth factor receptor 1
- HGNC 3688(opent in een nieuw tabblad)
- Ensembl-gen ENSG00000077782(opent in een nieuw tabblad)
- NCBI Gene 2260(opent in een nieuw tabblad)
Samenvatting
- Cytogenetische locatie
- 8p11.23
- Coördinaten
- Chromosoom 8: 38.411.143–38.468.635 (GRCh38)
- Exons
- 18 exons over 57,5 kb
- Eiwit
- 822 aminozuren
- Ook bekend als
- H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331
- Eerdere symbolen
- FLT2, KAL2
- MANE Select-transcript
- ENST00000447712.7NM_023110.3
- Type locus
- gene with protein product
- Zeer hoog
- Betrouwbaar
- Laag
- Zeer laag
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
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Mijn Genome Test bestellenGecureerde rapporten over dit gen
Hypogonadotrope hypogonadisme
Een afwijkende werking van de eierstokken of testikels als gevolg van onvoldoende hormonale stimulatie vanuit de hypothalamus-hypofyse-as.
- 4 GenCC-indieners beoordelen het als definitief of sterk
Syndromale craniosynostose
Aandoeningen waarbij vroegtijdig sluiten van schedelnaden samengaat met andere kenmerken, waaronder het syndroom van Apert, Crouzon, Pfeiffer, Muenke en Saethre-Chotzen, veroorzaakt door genen zoals FGFR2, FGFR3, FGFR1, TWIST1, TCF12 en ERF.
- ClinGen beoordeelt het verband als definitief
- 5 GenCC-indieners beoordelen het als definitief of sterk
Wat weten verandert
Een vroege diagnose maakt tijdige operatie en controle van de hoofdgroei, het zicht en het gehoor mogelijk; mildere vormen, zoals het syndroom van Muenke, kunnen bij volwassenen onopgemerkt blijven, wat relevant is voor gezinsplanning.
Opbouw van FGFR1
- Coderende sequentie
- Niet-vertaald gebied
- Intron
- Richting van transcriptie
- Bekende ziekteveroorzakende posities
- Gebieden die korte reads moeilijk vinden
Exonen van het MANE Select-transcript van het gen (release v1.5), afkomstig van NCBI en EMBL-EBI, op het GRCh38-referentiegenoom.
Chromosoombanden uit het ideogram van UCSC's GRCh38 (2022-10-29).
Genen in de buurt uit Ensembl-release 116, op GRCh38.
Exonen vormen 5,7 kb van de 57,5 kb van het gen; 2.469 van die basen coderen voor het eiwit.
Hoe een genoomtest FGFR1 leest
171
posities in FGFR1 waar ClinVar een wijziging als pathogeen of waarschijnlijk pathogeen classificeert
Geen daarvan valt in een gebied dat korte reads moeilijk vinden.
Een volledig genoom dekt alle 57,5 kb van FGFR1, inclusief introns, en niet alleen de 5,7 kb aan exonen.
Kenmerken gekoppeld aan FGFR1
De Human Phenotype Ontology vermeldt deze als kenmerken van de zeldzame aandoeningen die FGFR1 kan veroorzaken. Op de pagina van elk kenmerk staan de andere genen die ermee verband houden.
Abnormality of head or neck
- Deformity of the skull
- Eye folds
- Failure of development of more than six teeth
- High, narrow palate
- Long philtrum
- Metopic synostosis
- Short nose
- Triangular head shape
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- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Zygomatic flattening
- Bicoronal synostosis
- Blockage of the rear opening of the nasal cavity
- Broad head shape
- Chewing difficulties
- Cleft palate
- Corners of eye widely separated
- Decreased number of teeth
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Encephalocele
- High forehead
- High palate
- Hyposmia
- Lost smell
- Midface retrusion
- Midnasal stenosis
- Multiple unerupted teeth
- Non-midline cleft of the upper lip
- Only one upper front tooth
- Abnormal eyelashes
- Abnormal nasolacrimal system morphology
- Abnormality of the eyelid
- Abnormality of the face
- Abnormality of the skull
- Abnormally small head
- Absence of premolar
- Absence of six year molar
- Absence of upper lateral incisor
- Absent central incisor
- Bad bite
- Bifid uvula
- Big calvaria
- Big lower jaw
- Central cleft upper lip
- Cleft eyelid
- Cleft upper lip
- Decreased length of dental roots
- Decreased size of maxilla
- Decreased size of tooth
- Delayed eruption of permanent teeth
- Delayed eruption of teeth
- Enlargement of craniofacial bones
- Failure of eruption of tooth
- Flat nose
- Frontal bossing
- Highly arched eyebrow
- Little lower jaw
- Monobrow
- Narrow forehead
- Narrow nasal bridge
- Nasal tip, upturned
- Prominent brow
- Short neck
- Short philtrum
- Tented mouth
- Widely spaced teeth
- Abnormal dentition
- Abnormality of canine
- Abnormality of dental shape
- Abnormality of shape of baby molar
- Absence of lower premolar
- Cleft of the mouth
- Cloverleaf cranium shape
- Coronal craniosynostosis
- Decreased size of teeth
- Mono nostril
- Outward turned lips
- Peg-shaped maxillary lateral incisors
- Proboscis
- Prominent forehead
- Short face
- Taurodontia
- Thin dental enamel
- Benign eye tumor
- Blockage of nose
- Dandy-Walker malformation
- Decreased depth of eye sockets
- Decreased size of bone of forehead
- Dental crowding
- High, prominent forehead
- Narrowing of the rear opening of the nasal cavity
- Skin tag in front of the ear
- Wide nose
Abnormality of the nervous system
- Agenesis of corpus callosum
- Delayed speech and language development
- Global developmental delay
- Aplasia/Hypoplasia of the corpus callosum
- Epilepsy
- Intellectual disability
- Lobar holoprosencephaly
- Neurodevelopmental abnormality
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- Abnormal central motor function
- Abnormal morphology of the olfactory bulb
- Abnormal shape of brainstem
- Abnormal speech pattern
- Abnormality of the autonomic nervous system
- Absent septum pellucidum
- Absent speech development
- Anxiety
- Aplasia of the falx cerebri
- Astrocytoma
- Attention deficit
- Behavioral abnormality
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebrum
- Depression
- Difficulty finding words
- Echoing another person's speech
- Inability to speak
- Inability to walk
- Irritability
- Lack of feeling, emotion, interest
- Lethargy
- Limb dystonia
- Neural tube defect
- Oromotor apraxia
- Paralysis or weakness of one side of body
- Poor speech
- Sleep-wake cycle disturbance
- Specific learning disability
- Subcortical cerebral atrophy
- Ventriculomegaly
- Abnormal gait
- Absent/small cerebellum
- Alobar holoprosencephaly
- Aplasia of the olfactory bulb
- Aqueductal stenosis
- Ataxia
- Autism
- Difficulty articulating speech
- Difficulty sleeping
- Extreme thirst
- Grand mal seizures
- Hand mirror movements
- Holoprosencephaly
- Leg paralysis
- Paralysis
- Paralysis of all four limbs
- Paralysis on one side of body
- Semilobar holoprosencephaly
- Too much cerebrospinal fluid in the brain
- Tremor
- Weakness of one side of body
- Rise in pressure inside skull
- Cavity within brain
- Chiari malformation
- Cortical dysplasia
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Small cerebellum
- Underdevelopment of part of brain called corpus callosum
Abnormality of limbs
- Absent/small thumb
- Broad bone of big toe
- Broad thumb
- Cleft hand
- Hallux varus
- Short big toe
- Wide 1st long bone of foot
- Aplasia/Hypoplasia of the radius
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- Broad innermost bone of the big toe
- Broad outermost bone of big toe
- Disproportionately short upper portion of limb
- Finger syndactyly
- Fused toes
- Short 1st long bone of foot
- Short fingers or toes
- Short foot
- Short palm
- Short thumb
- Split hand
- Webbed 2nd and 3rd toes
- 3-4 toe cutaneous syndactyly
- Abnormality of limbs
- Calcaneonavicular fusion
- Curvature of digit
- Dropped arches
- High-arched foot
- Hip dislocation
- Permanent flexion of the finger
- Bowing of the long bones
- Broad big toe
- Broad foot
- Broad palm
- Elbow ankylosis
- Fusion of upper and lower arm bones
- Limb undergrowth
- Short finger bones
- Short long bone of foot
- Short middle bones (feet)
- Shortened long bone of hand
- Shortening of all middle phalanges of the fingers
- Webbed fingers or toes
- Wide digital bones
- Wide long bone of foot
- Wide long bones of hand
Abnormality of the musculoskeletal system
- Abnormal vertebral body morphology
- Delayed bone maturation
- Inability to make and keep healthy fat tissue
- Multiple fatty lumps
- Abnormal collarbone
- Abnormal deposits of calcium in the brain
- Bone cyst
- Breakdown of bone
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- Decreased muscle tone in infant
- Involuntary muscle stiffness, contraction, or spasm
- Low solidness and mass of the bones
- Muscle stiffness
- Osteopenia
- Osteoporosis
- Rigidity
- Skeletal tumor
- Spasticity and rigidity of muscles
- Abnormal bone maturation
- Abnormal shape of cartilage
- Abnormal skeletal development
- Abnormality of the skeletal system
- Dysostosis multiplex
- EMG: myopathic abnormalities
- Flexed joint that cannot be straightened
- Funnel chest
- Hypermobility of all joints
- Low muscle tone
- Low muscle tone in trunk
- Muscle weakness
- Osteochondrosis
- Permanent flexion of the finger or toe
- Recurrent fractures
- Scoliosis
- Fatty lump
- Flattened vertebrae
- Increased susceptibility to fractures
- Low muscle tone, in neonatal onset
- Lumbar hemivertebrae
- Multiple central nervous system lipomas
- Pseudoarthrosis
- Small shoulder blade
Abnormality of the genitourinary system
- Decreased testicular size
- Primary amenorrhea
- Short penis
- Abnormal erection
- Absent sperm in semen
- Decreased fertility
- Difficulty getting a full erection
- Increased female sex drive
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- Non-obstructive azoospermia
- Underdeveloped penis
- Undescended testes
- Previous menstrual periods stop
- Small uterus
- Underdeveloped ovary
- Abnormal morphology of female internal genitalia
- Abnormality of the genitourinary system
- Absent kidney
- Ambiguous external genitalia
- Dyspareunia
- Infertility
- Chordee
- Hydronephrosis
- Hypospadias
- Long penis
- Pelvic kidney
Abnormality of the endocrine system
- Hypogonadotropic hypogonadism
- Absence of pubertal development
- Absence of secondary sex characteristics
- Anterior hypopituitarism
- Decreased function of male gonad
- Decreased serum testosterone level
- Delayed puberty
- Female hypogonadism
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- Gonadotropin-releasing hormone deficiency
- Abnormal hypothalamus physiology
- Abnormality of the endocrine system
- Abnormality of the hypothalamus-pituitary axis
- Diabetes insipidus
- Underdeveloped pituitary gland
- Central hypothyroidism
- Decreased response to growth hormone stimulation test
- Panhypopituitarism
- Underactive thyroid
- Gonadotropin deficiency
Abnormality of the cardiovascular system
- Increased blood pressure in blood vessels of lungs
- Strawberry birthmark
- Tricuspid valve prolapse
- Visceral angiomatosis
- Abnormal aortic morphology
- Abnormal cardiovascular system morphology
- Abnormal heart rate variability
- Abnormality of the heart
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- Interrupted aortic arch
- Narrowing of aorta
- Narrowing of aortic valve
- Strawberry mark
- Tetralogy of Fallot
- An opening in the wall separating the top two chambers of the heart
- Hole in heart wall separating two lower heart chambers
- Narrowing of blood vessel below aortic heart valve
- Narrowing of peripheral lung artery
Growth abnormality
- Growth delay
- Severe short stature
- Eunuchoid habitus
- Faltering weight
- Prenatal growth deficiency
- Short stature
- Abnormality of body height
- Faltering weight in infancy
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Externe links
Genrecords
Transcript
Eiwit
Waar dit vandaan komt
- HGNC: het symbool van het gen, de naam, andere symbolen en de locatie.
- MANE Select v1.5, van NCBI en EMBL-EBI: het transcript, de exonen en de coderende sequentie.
- GenCC en ClinGen, uitgebracht 2026-10-16: aan welke aandoeningen het gen is gekoppeld, en hoe sterk dat verband is.
- De ACMG-lijst met secundaire bevindingen, SF v3.2.
- ClinVar en de GIAB-stratificaties: bekende ziekteveroorzakende plaatsen en de regio's waar korte reads moeite mee hebben.
- De Human Phenotype Ontology, versie 2026-09-01: de kenmerken die aan het gen zijn gekoppeld. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Deze pagina citeren
Dante Labs. (z.d.). FGFR1-gen: fibroblast growth factor receptor 1. Geraadpleegd op 17 oktober 2026, van https://dantelabs.com/nl/genes/fgfr1
Dante Labs. FGFR1-gen: fibroblast growth factor receptor 1 [Internet]. [geraadpleegd 17 oktober 2026]. Beschikbaar op: https://dantelabs.com/nl/genes/fgfr1
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