Gen
FGFR1
fibroblast growth factor receptor 1
- HGNC 3688(se abre en una pestaña nueva)
- Gen de Ensembl ENSG00000077782(se abre en una pestaña nueva)
- Gen de NCBI 2260(se abre en una pestaña nueva)
Resumen
- Localización citogenética
- 8p11.23
- Coordenadas
- Cromosoma 8: 38.411.143–38.468.635 (GRCh38)
- Exones
- 18 exones en 57,5 kb
- Proteína
- 822 aminoácidos
- También conocido como
- H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331
- Símbolos anteriores
- FLT2, KAL2
- Transcrito MANE Select
- ENST00000447712.7NM_023110.3
- Tipo de locus
- gene with protein product
- Muy alta
- Alta
- Baja
- Muy baja
Genoma de referenciaGRCh38hg38
Las posiciones en las páginas de genes y variantes siguen esta elección, en este navegador.
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Obtener mi Genome TestInformes revisados relevantes para este gen
Hipogonadismo hipogonadotropo
Función ovárica o testicular alterada debido a una estimulación hormonal insuficiente por parte del eje hipotálamo-hipofisario.
- 4 remitentes de GenCC la califican como definitiva o fuerte
Craneosinostosis sindrómica
Enfermedades que combinan el cierre prematuro de las suturas craneales con otras características, entre ellas los síndromes de Apert, Crouzon, Pfeiffer, Muenke y Saethre-Chotzen, causadas por genes como FGFR2, FGFR3, FGFR1, TWIST1, TCF12 y ERF.
- ClinGen califica la relación como definitiva
- 5 remitentes de GenCC la califican como definitiva o fuerte
Qué cambia al conocerlo
El diagnóstico precoz permite realizar la cirugía a tiempo y hacer un seguimiento del crecimiento craneal, la visión y la audición; las formas más leves, como el síndrome de Muenke, pueden pasar desapercibidas en adultos, lo que es relevante para la planificación familiar.
Estructura de FGFR1
- Secuencia codificante
- Región no traducida
- Intrón
- Sentido de la transcripción
- Sitios conocidos que causan enfermedad
- Regiones que las lecturas cortas tienen dificultad para leer
Exones del transcrito MANE Select del gen (versión v1.5), de NCBI y EMBL-EBI, sobre el genoma de referencia GRCh38.
Bandas cromosómicas del ideograma GRCh38 de UCSC (2022-10-29).
Genes cercanos de Ensembl, versión 116, en GRCh38.
Los exones suman 5,7 kb de los 57,5 kb del gen; 2469 de esas bases codifican la proteína.
Cómo lee una prueba genómica el gen FGFR1
171
posiciones en FGFR1 donde ClinVar clasifica un cambio como patogénico o probablemente patogénico
Ninguna de ellas cae en una región que las lecturas cortas tienen dificultad para leer.
Un genoma completo cubre los 57,5 kb de FGFR1, incluidos los intrones, y no solo los 5,7 kb de exones.
Rasgos asociados a FGFR1
La Human Phenotype Ontology recoge estos rasgos como características de las enfermedades raras que FGFR1 puede causar. La página de cada rasgo enumera los demás genes asociados a él.
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
Mostrar 86 rasgos más
- 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
Mostrar 59 rasgos más
- 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
Mostrar 36 rasgos más
- 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
Mostrar 33 rasgos más
- 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
Mostrar 17 rasgos más
- 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
Mostrar 11 rasgos más
- 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
Mostrar 9 rasgos más
- 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
Mostrar 1 rasgo más
Enlaces externos
Registros del gen
Transcrito
Proteína
Origen de estos datos
- HGNC: el símbolo del gen, su nombre, otros símbolos y su ubicación.
- MANE Select v1.5, de NCBI y EMBL-EBI: el transcrito, sus exones y la secuencia codificante.
- GenCC y ClinGen, publicados en 2026-10-16: a qué afecciones está vinculado el gen y con qué grado de solidez.
- La lista ACMG de hallazgos secundarios, SF v3.2.
- ClinVar y las estratificaciones de GIAB: sitios conocidos que causan enfermedad, y las regiones que las lecturas cortas encuentran difíciles.
- Human Phenotype Ontology, versión 2026-09-01: los rasgos asociados al gen. Más información en hpo.jax.org.
- Versión de datos 2026.10.16-c6eea6bf.
Citar esta página
Dante Labs. (s. f.). Gen FGFR1: fibroblast growth factor receptor 1. Consultado el 17 de octubre de 2026, en https://dantelabs.com/es/genes/fgfr1
Dante Labs. Gen FGFR1: fibroblast growth factor receptor 1 [Internet]. [citado 17 de octubre de 2026]. Disponible en: https://dantelabs.com/es/genes/fgfr1
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