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 Biomarker disease GENOMICS_ENGLAND De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency. 24280688 2014
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 Biomarker disease GENOMICS_ENGLAND Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. 20463092 2010
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 Biomarker disease GENOMICS_ENGLAND DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. 24569166 2014
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: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 CausalMutation disease CLINVAR
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease GENOMICS_ENGLAND Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 Biomarker disease BEFREE In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). 26680571 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 Biomarker disease CTD_human
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 GermlineCausalMutation disease ORPHANET Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. 18596921 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 Biomarker disease BEFREE To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS. 20536592 2010
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 Biomarker disease BEFREE Indeed, FGF8 and FGFR1 deficiency severely compromises vertebrate reproduction in mice and humans and is associated with Kallmann Syndrome (KS), a congenital disease characterized by hypogonadotropic hypogonadism associated with anosmia. 31361780 2019
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 Biomarker disease BEFREE Finally, recent additional observations, notably using animal models, but also the description of human mutations in a specific ligand of FGFR1, FGF8, are beginning to shed light on the pathogenesis of GnRH deficiency in general, not just KS. 20389085 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.560 GermlineCausalMutation disease ORPHANET Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. 20463092 2010
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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.500 Biomarker disease MGD
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.500 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 AlteredExpression disease BEFREE Finally, to analyze the mechanisms of holoprosencephaly observed in the case described here, we include a concise review on the current understanding of how FGFs and their receptors are expressed in the rostral signaling center (particularly Fgf8). 21204232 2011
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 GeneticVariation disease CLINVAR
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.450 Biomarker disease GENOMICS_ENGLAND Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
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 CausalMutation disease CLINVAR