Gen
FGFR1
fibroblast growth factor receptor 1
- HGNC 3688(öffnet sich in einem neuen Tab)
- Ensembl-Gen ENSG00000077782(öffnet sich in einem neuen Tab)
- NCBI Gene 2260(öffnet sich in einem neuen Tab)
Zusammenfassung
- Zytogenetische Lage
- 8p11.23
- Koordinaten
- Chromosom 8: 38.411.143–38.468.635 (GRCh38)
- Exons
- 18 Exons über 57,5 kb
- Protein
- 822 Aminosäuren
- Auch bekannt als
- H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331
- Frühere Symbole
- FLT2, KAL2
- MANE-Select-Transkript
- ENST00000447712.7NM_023110.3
- Locus-Typ
- gene with protein product
- Sehr hoch
- Zuversichtlich
- Niedrig
- Sehr niedrig
ReferenzgenomGRCh38hg38
Die Positionen auf den Gen- und Variantenseiten richten sich nach dieser Auswahl, in diesem Browser.
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Meinen Genome Test bestellenKuratierte Berichte zu diesem Gen
Hypogonadotroper Hypogonadismus
Eine gestörte Funktion der Eierstöcke oder Hoden infolge einer unzureichenden hormonellen Stimulation durch die Hypothalamus-Hypophysen-Achse.
- 4 GenCC-Einreicher bewerten ihn als eindeutig oder stark
Syndromale Kraniosynostose
Erkrankungen, die einen vorzeitigen Schluss der Schädelnähte mit weiteren Merkmalen verbinden, darunter das Apert-, Crouzon-, Pfeiffer-, Muenke- und Saethre-Chotzen-Syndrom. Verursacht werden sie durch Gene wie FGFR2, FGFR3, FGFR1, TWIST1, TCF12 und ERF.
- ClinGen stuft die Verbindung als eindeutig ein
- 5 GenCC-Einreicher bewerten ihn als eindeutig oder stark
Was das Wissen verändert
Eine frühe Diagnose ermöglicht eine rechtzeitige Operation und die Überwachung des Kopfwachstums, des Sehvermögens und des Hörvermögens. Mildere Formen wie das Muenke-Syndrom können bei Erwachsenen unerkannt bleiben, was für die Familienplanung von Bedeutung ist.
Aufbau von FGFR1
- Kodierende Sequenz
- Nicht translatierte Region
- Intron
- Transkriptionsrichtung
- Bekannte krankheitsverursachende Stellen
- Abschnitte, die Short Reads schwer erfassen
Exons des MANE-Select-Transkripts des Gens (Version v1.5) von NCBI und EMBL-EBI, bezogen auf das Referenzgenom GRCh38.
Chromosomenbanden aus dem UCSC-Ideogramm GRCh38 (2022-10-29).
Benachbarte Gene aus Ensembl-Version 116 auf GRCh38.
Exons machen 5,7 kb der 57,5 kb des Gens aus; 2.469 dieser Basen kodieren für das Protein.
So liest ein Gentest FGFR1
171
Positionen in FGFR1, an denen ClinVar eine Veränderung als pathogen oder wahrscheinlich pathogen einstuft
Keine davon liegt in einem Bereich, den Short Reads schwer erfassen.
Ein Ganzgenom-Test erfasst alle 57,5 kb von FGFR1, einschließlich der Introns, und nicht nur die 5,7 kb Exons.
Mit FGFR1 verknüpfte Merkmale
Die Human Phenotype Ontology führt diese als Merkmale der seltenen Erkrankungen auf, die FGFR1 verursachen kann. Auf der Seite jedes Merkmals sind die anderen Gene aufgeführt, die damit in Verbindung stehen.
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
86 weitere Merkmale anzeigen
- 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
59 weitere Merkmale anzeigen
- 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
36 weitere Merkmale anzeigen
- 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
17 weitere Merkmale anzeigen
- 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
11 weitere Merkmale anzeigen
- 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
9 weitere Merkmale anzeigen
- 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
1 weiteres Merkmal anzeigen
Externe Links
Gendatensätze
Transkript
Protein
Woher diese Angaben stammen
- HGNC: das Symbol des Gens, sein Name, weitere Symbole und seine Lage.
- MANE Select v1.5, von NCBI und EMBL-EBI: das Transkript, seine Exons und die kodierende Sequenz.
- GenCC und ClinGen, veröffentlicht 2026-10-16: welche Erkrankungen mit dem Gen in Verbindung stehen und wie stark dieser Zusammenhang ist.
- Die ACMG-Liste sekundärer Befunde, SF v3.2.
- ClinVar und die GIAB-Stratifizierungen: bekannte krankheitsverursachende Stellen sowie Regionen, die Kurzlesesequenzierung schwer erfassen kann.
- Human Phenotype Ontology, Version 2026-09-01: die mit dem Gen verknüpften Merkmale. Weitere Informationen unter hpo.jax.org.
- Datenversion 2026.10.16-c6eea6bf.
Diese Seite zitieren
Dante Labs. (o. J.). FGFR1-Gen: fibroblast growth factor receptor 1. Abgerufen am 16. Oktober 2026, von https://dantelabs.com/de/genes/fgfr1
Dante Labs. FGFR1-Gen: fibroblast growth factor receptor 1 [Internet]. [zitiert am 16. Oktober 2026]. Verfügbar unter: https://dantelabs.com/de/genes/fgfr1
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