Table 2. Human congenital and pathological diseases associated with FGF signalling.

Ligand or receptor	Disease
Loss-of-function mutations
FGF3	Deafness
FGF8	Kallman syndrome; cleft palate
FGF9	Colorectal, endometrial and ovarian carcinomas
FGF10	Aplasia of lacrymal and salivary glands; non-syndromic cleft lip and palate; hearing loss
FGF14	Spinocerebellar ataxia
FGF23	Familial tumoural calcinosis (FTC)
Increased level of expression
FGF2/FGF6	Prostate cancer
FGF19	Liver, colon and lung squamous carcinomas
FGF23	Osteomalacia
Gain-of-function mutations
FGF23	Hypophosphataemia
FGFR1 (germline)	Kallman and Pfeiffer syndromes; osteoglophonic dysplasia
FGFR1 (somatic)	Glioblastoma; malignant prostate cells; melanoma (rare)
FGFR2 (germline)	Apert syndrome; Crouzon; Pfeiffer; Jackson-Weiss; Antlley-Bixler; Beare-Stevenson syndromes
FGFR2 (somatic)	Endometrial cancer (12%) and gastric cancer (rare)
FGFR3 (germline)	Muencke syndrome; hypochondroplasia; thanatophoric dysplasia
FGFR3 (somatic)	Bladder cancer (50%); cervical cancer (5%); B-cell malignancy; myelanomas
FGFR4 (somatic)	Mutation associated with aggressive prostate cancer
Genomic translocations
ZNF198-FGFR1	Myeloproliferative disease
BCR-FGFR1	Stem cell leukaemia and lymphoma; chronic myelogenous leukaemia (CML, rare)
ETV6-FGFR3	Myelanomas (15%); peripheral T-cell lymphoma (rare)
Amplification
FGFR1	Breast, ovarian and bladder cancers (fewer than 10% of the cases)
FGFR2	Gastric cancer (10%) and breast cancer (~1%)
SNPs
FGF20	Parkinson’s disease
FGFR2	Increase incidence of breast cancer
FGFR4	Poor prognosis in breast, colon and lung adenocarcinomas

Data compiled from published sources (Beenken and Mohammadi, 2009; Krejci et al., 2009; Turner and Grose, 2010; Wilkie, 2005).

BCR, breakpoint cluster region; ETV, ETS variant; SNP, single-nucleotide polymorphism; ZNF, zinc finger, MYM-type.