Search for a gene
FGFR3 - fibroblast growth factor receptor 3
- Synonym(s) : CD333, CEK2, JTK4
- Previous symbols and names : ACH, achondroplasia, thanatophoric dwarfism
- Type : gene with protein product
- Chromosomal location : 4p16.3
- OMIM: 134934
- HGNC: 3690
- UniProtKB: P22607
- Genatlas: FGFR3
- GenCC: FGFR3
- Ensembl: ENSG00000068078
- IUPHAR-DB: 1810
- Reactome: P22607
- LOVD: FGFR3
Diseases list
- Disease-causing germline mutation(s) in Crouzon syndrome-acanthosis nigricans syndrome
ORPHA:93262 
- Disease-causing germline mutation(s) in Lacrimoauriculodentodigital syndrome
ORPHA:2363 - Disease-causing germline mutation(s) in Muenke syndrome
ORPHA:53271 - Disease-causing germline mutation(s) in Non-syndromic bicoronal craniosynostosis
ORPHA:35099 - Disease-causing germline mutation(s) in Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
ORPHA:85165 - Disease-causing germline mutation(s) in Thanatophoric dysplasia type 1
ORPHA:1860 - Disease-causing germline mutation(s) in Thanatophoric dysplasia type 2
ORPHA:93274 - Disease-causing germline mutation(s) (loss of function) in Camptodactyly-tall stature-scoliosis-hearing loss syndrome
ORPHA:85164 - Disease-causing germline mutation(s) (gain of function) in Achondroplasia
ORPHA:15 - Disease-causing germline mutation(s) (gain of function) in Hypochondroplasia
ORPHA:429 - Part of a fusion gene in Giant cell glioblastoma
ORPHA:251579 - Part of a fusion gene in Gliosarcoma
ORPHA:251576 - Candidate gene tested in Saethre-Chotzen syndrome
ORPHA:794
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.