FGFR1

fibroblast growth factor receptor 1

10 disorders 5 untyped 3 causative 1 somatic driver 1 no genetic record 8p11.23 gene with protein product

HGNC:3688 Monarch NCBI Gene 2260 ENSG00000077782 UniProt P11362 OMIM 136350

Previous symbols: FLT2, KAL2. Aliases: H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Dysembryoplastic Neuroepithelial Tumor	causative germline and somatic	mechanism: DNET Spectrum Molecular Heterogeneity; FGFR1-Driven RAS-MAPK Activation
Kallmann Syndrome	causative	mechanism: Defective GnRH neuron and olfactory axon migration subtype: FGFR1 scoped to subtype: FGFR1
Mixed Neuronal-Glial Tumor	somatic driver somatic
Pfeiffer Syndrome	causative	mechanism: FGFR1 gain-of-function signaling in cranial sutures subtype: FGFR1-related
Adult Granulosa Cell Tumor of Ovary	untyped Recurrent kinase-domain hotspot mutations act as an alternative oncogenic driver in a small subset of FOXL2-wildtype adult granulosa cell tumors. somatic
Encephalocraniocutaneous Lipomatosis	untyped Causative somatic	mechanism: Somatic FGFR1 gain-of-function in developing tissues
FGFR1-Related Hypogonadotropic Hypogonadism	untyped Causative	mechanism: Impaired GnRH neuron migration
Hartsfield Syndrome	untyped Causative	mechanism: Impaired Forebrain Midline Patterning; Impaired Limb Bud Patterning
Osteoglophonic Dysplasia	untyped Causative	mechanism: FGFR1 Constitutive Activation
Vulvar Adenocarcinoma	no genetic record	mechanism: HER2-Positive EMPD Signaling (Cross-Site Case Evidence)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
osteoglophonic dysplasia MONDO:0008150	AD	Limited 2021-03-22	Osteoglophonic Dysplasia untyped
Hartsfield-Bixler-Demyer syndrome MONDO:0014196	AD	Moderate 2026-07-09	Hartsfield Syndrome untyped
Pfeiffer syndrome type 1 MONDO:0019659	AD	Definitive 2021-05-21	Pfeiffer Syndrome causative

Mechanism modules · computed from kb/

fgfr_gain_of_function_skeletal_dysplasia via Osteoglophonic Dysplasia, Pfeiffer Syndrome named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.