FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 GeneticVariation disease BEFREE Both our patients had additional bilateral cryptorchidism, a key phenotypic feature in males with FGF8 associated Kallmann syndrome.Each mutation was paternally inherited. 25131394 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 GeneticVariation disease BEFREE Substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same Kallmann syndrome gene defects including in newer ones (FGF8 and CHD7) continues to be repeatedly observed. 20543690 2010
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 GeneticVariation disease CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 GeneticVariation disease BEFREE Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly. 29584859 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 GeneticVariation disease BEFREE The objective of this study was to screen for FGF8 mutations in patients with septo-optic dysplasia (n = 374) or holoprosencephaly (HPE)/midline clefts (n = 47). 21832120 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 GeneticVariation disease BEFREE Frank holoprosencephaly was present in 11 individuals with deletions of one of the common HPE genes SHH, ZIC2, SIX3, and TGIF1, in one individual with a deletion of the HPE8 locus at 14q13, and in one individual with a deletion of FGF8, whereas deletions of other HPE loci and candidate genes (FOXA2 and LRP2) expressed microforms of HPE. 20066439 2010
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		0.400 GeneticVariation disease CLINVAR
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.320 GeneticVariation group BEFREE Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. 24280688 2014
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 GeneticVariation disease BEFREE An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. 12223415 2002
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.220 GeneticVariation disease BEFREE The sequence variations c.590C>G and c.582-62G>A in FGF8, and, c.550+27C>T, c.727+180T>G, c.830T>C (p.Me186Thr), and c.2454C>T in FGFR2 were found uniquely in patients with hypospadias, as compared with 96 controls. 17264867 2007
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.160 GeneticVariation disease BEFREE In humans, loss-of-function mutations in FGF receptor 1 (Fgfr1) and Fgf8 lead to hypogonadotropic hypogonadism (HH) with or without anosmia. 20389084 2010
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.160 GeneticVariation disease BEFREE Substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same Kallmann syndrome gene defects including in newer ones (FGF8 and CHD7) continues to be repeatedly observed. 20543690 2010
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.140 GeneticVariation disease BEFREE These results support the hypothesis that IHH/KS patients with digenic mutations in Fgfr1/Fgf8 may have a further reduction in the GnRH neuronal population compared to patients harbouring monogenic haploid mutations in Fgfr1 or Fgf8. 20553372 2010
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.140 GeneticVariation disease BEFREE The prevalence of FGFR1, FGF8, and FGF17 mutations in IHH was 12.4%. hCG/hMG therapy was effective to acquire fertility for patients with FGFR1, FGF8, and FGF17 mutations but has a risk of transmitting the mutations and IHH to the next generation. 31748124 2020
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.140 GeneticVariation disease BEFREE Using a candidate gene approach, we identified 6 missense mutations in FGF8 in IHH probands with variable olfactory phenotypes. 18596921 2008
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.140 GeneticVariation disease BEFREE Two unique heterozygous nonsense mutations in FGF8 (p.R127X and p.R129X) were identified in two unrelated IHH probands, which were absent in 150 control individuals. 20463092 2010
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.140 GeneticVariation disease CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.110 GeneticVariation disease BEFREE Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. 25131394 2014
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.110 GeneticVariation disease BEFREE A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038 2012
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 GeneticVariation phenotype CLINVAR Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. 23533228 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE These regions contained representative tumor-related genes, such as the FGF8 and NPM3 genes at 10q24.32, and the LAMP1 gene at 13q34, which have been reported in connection with various tumors. 20428766 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 GeneticVariation group BEFREE This was tested by means of fluorescent in situ hybridisation in 20 cancer specimens to map the FGF8 gene locus. 12778074 2003