FGF17

Summary

FGF17 (fibroblast growth factor 17, HGNC:3673) is a protein-coding gene on chromosome 8p21.3, encoding Fibroblast growth factor 17 (O60258). Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain.

This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 8822 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypogonadotropic hypogonadism 20 with or without anosmia (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 65 total — 1 pathogenic
• Phenotypes (HPO): 79
• MANE Select transcript: NM_003867

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3673
Approved symbol	FGF17
Name	fibroblast growth factor 17
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	FGF-13
Ensembl gene	ENSG00000158815
Ensembl biotype	protein_coding
OMIM	603725
Entrez	8822

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000359441, ENST00000518533, ENST00000521709, ENST00000524314

RefSeq mRNA: 2 — MANE Select: NM_003867 NM_001304478, NM_003867

CCDS: CCDS6019, CCDS78310

Canonical transcript exons

ENST00000359441 — 5 exons

Exon	Start	End
ENSE00001041177	22043145	22043181
ENSE00001041179	22046114	22046291
ENSE00001297628	22042820	22042963
ENSE00001406033	22047956	22048809
ENSE00003495487	22046527	22046633

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 96.34.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8325 / max 99.2711, expressed in 109 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87667	0.4639	73
87670	0.3686	97

Top tissues by expression

282 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.34	gold quality
cerebellar hemisphere	UBERON:0002245	95.76	gold quality
cerebellar cortex	UBERON:0002129	95.48	gold quality
cerebellum	UBERON:0002037	92.26	gold quality
right frontal lobe	UBERON:0002810	88.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.59	silver quality
anterior cingulate cortex	UBERON:0009835	83.22	gold quality
cingulate cortex	UBERON:0003027	83.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.33	gold quality
nucleus accumbens	UBERON:0001882	76.88	gold quality
amygdala	UBERON:0001876	76.38	gold quality
right lobe of thyroid gland	UBERON:0001119	76.35	gold quality
caudate nucleus	UBERON:0001873	76.29	gold quality
left lobe of thyroid gland	UBERON:0001120	76.17	gold quality
hypothalamus	UBERON:0001898	75.68	gold quality
parotid gland	UBERON:0001831	75.33	gold quality
neocortex	UBERON:0001950	75.27	gold quality
putamen	UBERON:0001874	74.90	gold quality
left adrenal gland cortex	UBERON:0035825	74.88	gold quality
primary visual cortex	UBERON:0002436	74.64	gold quality
pituitary gland	UBERON:0000007	74.57	gold quality
adenohypophysis	UBERON:0002196	74.46	gold quality
brain	UBERON:0000955	74.29	gold quality
thyroid gland	UBERON:0002046	74.16	gold quality
left adrenal gland	UBERON:0001234	74.13	gold quality
cerebral cortex	UBERON:0000956	73.71	gold quality
frontal cortex	UBERON:0001870	73.70	gold quality
right adrenal gland	UBERON:0001233	73.54	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	1080.50
E-MTAB-8060	no	44.87
E-ANND-3	no	1.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXP1

miRNA regulators (miRDB)

28 targeting FGF17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-4440	90.29	63.67	61

Literature-anchored findings (GeneRIF, showing 4)

• FGF17 expression is increased 2-fold in benign prostatic hyperplasia and may contribute to the increased epithelial proliferation seen in this disease. (PMID:15129425)
• FGF8, FGF17, and FGF18 are involved in autocrine and paracrine signaling in HCC and enhance the survival of tumor cells under stress conditions, malignant behavior, and neoangiogenesis. (PMID:21319186)
• FGF17 and IL17RD prpopsed as the two top candidates in the entire proteome on the basis of a statistical test of their protein-protein interaction patterns to proteins known to be altered in congenital hypogonadotropic hypogonadism. (PMID:23643382)
• FGF10/FGF17 as prognostic and drug response markers in acute myeloid leukemia. (PMID:34731724)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fgf17	ENSMUSG00000022101
rattus_norvegicus	Fgf17	ENSRNOG00000012912

Paralogs (21): FGF10 (ENSG00000070193), FGF22 (ENSG00000070388), FGF4 (ENSG00000075388), FGF20 (ENSG00000078579), FGF14 (ENSG00000102466), FGF9 (ENSG00000102678), FGF21 (ENSG00000105550), FGF8 (ENSG00000107831), FGF6 (ENSG00000111241), FGF1 (ENSG00000113578), FGF12 (ENSG00000114279), FGF23 (ENSG00000118972), FGF13 (ENSG00000129682), FGF5 (ENSG00000138675), FGF2 (ENSG00000138685), FGF7 (ENSG00000140285), FGF18 (ENSG00000156427), FGF11 (ENSG00000161958), FGF19 (ENSG00000162344), FGF3 (ENSG00000186895), FGF16 (ENSG00000196468)

Protein

Protein identifiers

Fibroblast growth factor 17 — O60258 (reviewed: O60258)

All UniProt accessions (1): O60258

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.

Subunit / interactions. Interacts with FGFR3 and FGFR4.

Subcellular location. Secreted.

Tissue specificity. Preferentially expressed in the embryonic brain.

Disease relevance. Hypogonadotropic hypogonadism 20 with or without anosmia (HH20) [MIM:615270] A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3.

Similarity. Belongs to the heparin-binding growth factors family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60258-1	1	yes
O60258-2	2

RefSeq proteins (2): NP_001291407, NP_003858* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002209	Fibroblast_GF_fam	Family
IPR008996	IL1/FGF	Homologous_superfamily

Pfam: PF00167

UniProt features (9 total): sequence variant 3, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60258-F1	86.39	0.64

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 137

Function

Pathways and Gene Ontology

Reactome pathways

38 pathways

ID	Pathway
R-HSA-109704	PI3K Cascade
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-1839122	Signaling by activated point mutants of FGFR1
R-HSA-1839130	Signaling by activated point mutants of FGFR3
R-HSA-190322	FGFR4 ligand binding and activation
R-HSA-190371	FGFR3b ligand binding and activation
R-HSA-190372	FGFR3c ligand binding and activation
R-HSA-190373	FGFR1c ligand binding and activation
R-HSA-190375	FGFR2c ligand binding and activation
R-HSA-2033519	Activated point mutants of FGFR2
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5654219	Phospholipase C-mediated cascade: FGFR1
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2
R-HSA-5654227	Phospholipase C-mediated cascade; FGFR3
R-HSA-5654228	Phospholipase C-mediated cascade; FGFR4
R-HSA-5654687	Downstream signaling of activated FGFR1
R-HSA-5654688	SHC-mediated cascade:FGFR1
R-HSA-5654689	PI-3K cascade:FGFR1
R-HSA-5654693	FRS-mediated FGFR1 signaling
R-HSA-5654695	PI-3K cascade:FGFR2
R-HSA-5654699	SHC-mediated cascade:FGFR2
R-HSA-5654700	FRS-mediated FGFR2 signaling
R-HSA-5654704	SHC-mediated cascade:FGFR3
R-HSA-5654706	FRS-mediated FGFR3 signaling
R-HSA-5654710	PI-3K cascade:FGFR3
R-HSA-5654712	FRS-mediated FGFR4 signaling
R-HSA-5654719	SHC-mediated cascade:FGFR4
R-HSA-5654720	PI-3K cascade:FGFR4
R-HSA-5654726	Negative regulation of FGFR1 signaling
R-HSA-5654727	Negative regulation of FGFR2 signaling

MSigDB gene sets: 327 (showing top): REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, LEE_NEURAL_CREST_STEM_CELL_DN, WWTAAGGC_UNKNOWN, KEGG_MAPK_SIGNALING_PATHWAY, GCANCTGNY_MYOD_Q6, REACTOME_FGFR2C_LIGAND_BINDING_AND_ACTIVATION, REACTOME_SIGNALING_BY_FGFR, REACTOME_FGFR1_LIGAND_BINDING_AND_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, AREB6_01, GOBP_NEUROGENESIS, GOMF_GROWTH_FACTOR_ACTIVITY, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING

GO Biological Process (8): signal transduction (GO:0007165), cell-cell signaling (GO:0007267), nervous system development (GO:0007399), positive regulation of cell population proliferation (GO:0008284), fibroblast growth factor receptor signaling pathway (GO:0008543), neurogenesis (GO:0022008), regulation of cell migration (GO:0030334), positive regulation of MAPK cascade (GO:0043410)

GO Molecular Function (4): type 1 fibroblast growth factor receptor binding (GO:0005105), type 2 fibroblast growth factor receptor binding (GO:0005111), growth factor activity (GO:0008083), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Downstream signaling of activated FGFR1	4
FGFR3 ligand binding and activation	2
Downstream signaling of activated FGFR2	2
IRS-mediated signalling	1
Intracellular signaling by second messengers	1
FGFR1 mutant receptor activation	1
FGFR3 mutant receptor activation	1
Signaling by FGFR4	1
FGFR1 ligand binding and activation	1
FGFR2 ligand binding and activation	1
FGFR2 mutant receptor activation	1
PI3K/AKT Signaling in Cancer	1
Downstream signaling of activated FGFR3	1
Downstream signaling of activated FGFR4	1
Signaling by FGFR1	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	2
signaling	2
fibroblast growth factor receptor binding	2
cellular anatomical structure	2
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
system development	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
nervous system development	1
cell differentiation	1
cell migration	1
regulation of cell motility	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
receptor ligand activity	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

3859 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FGF17	FGFR1	P11362	997
FGF17	FGFR2	P18443	991
FGF17	FGFR4	P22455	989
FGF17	EGF	P01133	988
FGF17	KL	Q9UEF7	986
FGF17	FGFR3	P22607	956
FGF17	HSPG2	P98160	947
FGF17	FGFBP1	Q14512	942
FGF17	SCN5A	Q14524	928
FGF17	FGF2	P09038	924
FGF17	FGF1	P05230	922
FGF17	DCN	P07585	905
FGF17	CALM1	P02593	901
FGF17	FGF13	Q92913	891
FGF17	CDH2	P19022	879

IntAct

8 interactions, top by confidence:

A	B	Type	Score
FGF17	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
FGF17	H1-2	psi-mi:“MI:0915”(physical association)	0.400
FGF17	U2SURP	psi-mi:“MI:0914”(association)	0.350
FGF17	MRPS14	psi-mi:“MI:0914”(association)	0.350
FGF17	ANKHD1-EIF4EBP3	psi-mi:“MI:0914”(association)	0.350
FGF17	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (41): FGF17 (Protein-peptide), FGF17 (Protein-peptide), PTX3 (Reconstituted Complex), UBQLN2 (Two-hybrid), HIST1H1C (Proximity Label-MS), FGF17 (Affinity Capture-RNA), NOL12 (Affinity Capture-MS), RPS16 (Affinity Capture-MS), TOE1 (Affinity Capture-MS), U2SURP (Affinity Capture-MS), RBM28 (Affinity Capture-MS), LARP1B (Affinity Capture-MS), ZC3H8 (Affinity Capture-MS), ANKRD17 (Affinity Capture-MS), RPS28 (Affinity Capture-MS)

ESM2 similar proteins: A0MTF4, M3X9S6, O15520, O35565, O42596, O43320, O54769, O60258, O95750, P05524, P08620, P10767, P11403, P12034, P15656, P21658, P31371, P36363, P36364, P36386, P37237, P48802, P48803, P48804, P48805, P48806, P48807, P48808, P54130, P55075, P63075, P63076, P70492, Q02195, Q08C93, Q20FD0, Q2HXK8, Q3ZFI5, Q6UWX4, Q90722

Diamond homologs: O10284, O43320, O54769, O57341, O60258, O62682, O76093, O88182, O89101, P08620, P09038, P10767, P11403, P13109, P15655, P21658, P21781, P31371, P36363, P36364, P36386, P37237, P48799, P48801, P48804, P48805, P48806, P48808, P54130, P55075, P63075, P63076, P79150, Q02195, Q0VCA0, Q2HXK8, Q3ZFI5, Q5D0X0, Q5IS69, Q5RAY8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FGF17	up-regulates	FGFR2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

65 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	28
Likely benign	22
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
50859	NM_003867.4(FGF17):c.530G>A (p.Arg177His)	Pathogenic

SpliceAI

900 predictions. Top by Δscore:

Variant	Effect	Δscore
8:22046100:T:TA	acceptor_gain	1.0000
8:22046104:A:AG	acceptor_gain	1.0000
8:22046141:A:AG	acceptor_gain	1.0000
8:22046146:GTAC:G	acceptor_gain	1.0000
8:22046276:G:GT	donor_gain	1.0000
8:22046287:GTTTG:G	donor_gain	1.0000
8:22046288:T:G	donor_gain	1.0000
8:22046292:G:GG	donor_gain	1.0000
8:22046293:T:A	donor_loss	1.0000
8:22046295:A:T	donor_gain	1.0000
8:22046523:ACAG:A	acceptor_loss	1.0000
8:22046525:A:AG	acceptor_gain	1.0000
8:22046526:G:GG	acceptor_gain	1.0000
8:22046526:GC:G	acceptor_gain	1.0000
8:22046526:GCC:G	acceptor_gain	1.0000
8:22046526:GCCAA:G	acceptor_gain	1.0000
8:22046652:G:T	donor_gain	1.0000
8:22047951:C:A	acceptor_gain	1.0000
8:22047953:CA:C	acceptor_loss	1.0000
8:22047954:A:AG	acceptor_gain	1.0000
8:22047955:G:GG	acceptor_gain	1.0000
8:22047955:GC:G	acceptor_gain	1.0000
8:22047955:GCCC:G	acceptor_gain	1.0000
8:22047955:GCCCA:G	acceptor_gain	1.0000
8:22042964:G:GG	donor_gain	0.9900
8:22046101:G:A	acceptor_gain	0.9900
8:22046104:AACC:A	acceptor_gain	0.9900
8:22046105:A:G	acceptor_gain	0.9900
8:22046110:AAAG:A	acceptor_gain	0.9900
8:22046110:AAAGG:A	acceptor_gain	0.9900

AlphaMissense

1425 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:22046211:T:A	L57H	1.000
8:22046211:T:C	L57P	1.000
8:22046213:T:G	Y58D	1.000
8:22046216:A:C	S59R	1.000
8:22046218:C:A	S59R	1.000
8:22046218:C:G	S59R	1.000
8:22046533:T:C	L86P	1.000
8:22046553:T:C	F93L	1.000
8:22046554:T:G	F93C	1.000
8:22046555:T:A	F93L	1.000
8:22046555:T:G	F93L	1.000
8:22046566:T:A	V97D	1.000
8:22046569:G:C	R98P	1.000
8:22046572:T:A	I99N	1.000
8:22046572:T:C	I99T	1.000
8:22046572:T:G	I99S	1.000
8:22046601:T:C	C109R	1.000
8:22046602:G:A	C109Y	1.000
8:22046603:T:G	C109W	1.000
8:22046617:G:T	G114V	1.000
8:22047977:T:C	C127R	1.000
8:22047978:G:A	C127Y	1.000
8:22047978:G:T	C127F	1.000
8:22047979:C:G	C127W	1.000
8:22047983:T:C	F129L	1.000
8:22047984:T:C	F129S	1.000
8:22047984:T:G	F129C	1.000
8:22047985:C:A	F129L	1.000
8:22047985:C:G	F129L	1.000
8:22047999:T:C	L134P	1.000

dbSNP variants (sampled 300 via entrez): RS1000334107 (8:22044029 C>A,T), RS1000406471 (8:22044214 C>G,T), RS1000611749 (8:22039299 G>T), RS1001664678 (8:22039345 G>A), RS1001739914 (8:22039500 G>A), RS1001899250 (8:22044413 G>A), RS1002602246 (8:22046149 C>T), RS1002666163 (8:22040487 G>A), RS1002972859 (8:22045377 C>G,T), RS1003674393 (8:22042052 A>C), RS1004241766 (8:22041575 T>C), RS1004279271 (8:22039726 C>T), RS1004812616 (8:22045478 G>A,T), RS1004963586 (8:22049191 A>C), RS1005441941 (8:22047113 G>A)

Disease associations

OMIM: gene MIM:603725 | disease phenotypes: MIM:615270

GenCC curated gene-disease

Disease	Classification	Inheritance
hypogonadotropic hypogonadism 20 with or without anosmia	Strong	Autosomal dominant
hypogonadotropic hypogonadism	Supportive	Autosomal dominant
Kallmann syndrome	Supportive	Autosomal dominant

Mondo (3): hypogonadotropic hypogonadism 20 with or without anosmia (MONDO:0014106), hypogonadotropic hypogonadism (MONDO:0018555), Kallmann syndrome (MONDO:0018800)

Orphanet (1): Kallmann syndrome (Orphanet:478)

HPO phenotypes

79 total (30 of 79 shown, HPO-id order):

HPO	Term
HP:0000002	Abnormality of body height
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000013	Hypoplasia of the uterus
HP:0000026	Male hypogonadism
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000054	Micropenis
HP:0000104	Renal agenesis
HP:0000118	Phenotypic abnormality
HP:0000134	Female hypogonadism
HP:0000135	Hypogonadism
HP:0000144	Decreased fertility
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000316	Hypertelorism
HP:0000407	Sensorineural hearing impairment
HP:0000458	Anosmia
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000551	Color vision defect
HP:0000639	Nystagmus
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000771	Gynecomastia
HP:0000786	Primary amenorrhea
HP:0000789	Infertility
HP:0000802	Impotence

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D017436	Kallmann Syndrome	C12.050.351.875.253.096.750; C12.200.706.316.096.750; C12.800.316.096.750; C16.131.939.316.096.750; C16.320.467; C19.391.119.096.750; C19.391.482.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Copper	decreases expression, affects cotreatment, affects binding	2
Vanadium	increases methylation, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
aflatoxin B2	increases methylation	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	decreases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Glyphosate	increases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	affects methylation	1
Chelating Agents	affects binding, decreases expression	1
Diazinon	increases methylation	1
Estradiol	decreases expression	1
Silicon Dioxide	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1
Metals, Heavy	increases abundance, increases methylation	1
Okadaic Acid	decreases expression	1
Coal Ash	increases expression	1

Clinical trials (associated diseases)

84 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00328926	PHASE4	TERMINATED	Luveris® (Lutropin Alfa for Injection) in Women With Hypogonadotropic Hypogonadism (Luteinizing Hormone [LH] Less Than [<] 1.2 International Unit Per Liter [IU/L])
NCT01403532	PHASE4	COMPLETED	Sequential Therapy for Hypogonadotropic Hypogonadism
NCT01454011	PHASE4	COMPLETED	The Effect of Testosterone Replacement on the High Density Lipoprotein Cholesterol Subgroups
NCT01601327	PHASE4	COMPLETED	Effects of Medications in Patients With Hypogonadism
NCT02310074	PHASE4	UNKNOWN	Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism
NCT02880280	PHASE4	UNKNOWN	Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism
NCT03490513	PHASE4	COMPLETED	Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism
NCT04456296	PHASE4	COMPLETED	A Study of the Effect of Testosterone Replacement Therapy on Blood Pressure in Adult Male Participants With Hypogonadism
NCT05205837	PHASE4	TERMINATED	A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids- The LUCAS Trial
NCT03687606	PHASE4	UNKNOWN	Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH)
NCT00467870	PHASE3	COMPLETED	Long-term Safety Study of Intramuscular Injections of 750 mg and 1000 mg Testosterone Undecanoate in Hypogonadal Men
NCT00962637	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Androxal™ Treatment in Men With Secondary Hypogonadism
NCT01067365	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of Androxal Treatment in Men With Secondary Hypogonadism
NCT01532414	PHASE3	COMPLETED	Phase III Study to Evaluated Morning Testosterone Normalization in Men With Secondary Hypogonadism
NCT01534208	PHASE3	COMPLETED	Safety Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism
NCT01709331	PHASE3	COMPLETED	A Study of the Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adult Men With Hypogonadotropic Hypogonadism (HH) (P07937)
NCT01739582	PHASE3	COMPLETED	An Extension Study of Enclomiphene Citrate in the Treatment of Men With Secondary Hypogonadism
NCT01739595	PHASE3	COMPLETED	Phase III Study to Evaluate Morning Testosterone Normalization in Overweight Men With Secondary Hypogonadism
NCT01993212	PHASE3	COMPLETED	A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62%
NCT01993225	PHASE3	COMPLETED	A Randomized, Double Blind, Placebo-Controlled, Multi-Center Phase III Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Testosterone and Sperm Concentration Following Treatment With 12.5 mg or 25 mg Androxal or AndroGel 1.62%
NCT02110368	PHASE3	COMPLETED	Bioequivalence Study of Test and Reference Testosterone Topical Gel, 1.62% Metered Pump in Testosterone Deficient Adult Male Subjects Under Fasting Conditions
NCT03019575	PHASE3	COMPLETED	Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adolescent Males With Hypogonadotropic Hypogonadism (HH) (MK-8962-043)
NCT06561594	PHASE3	NOT_YET_RECRUITING	To Evaluate Recombinant Human Follicle Stimulating Hormone-CTP Fusion Protein Injection or Placebo Combined With Chorionic Gonadotropin for Injection
NCT00193661	PHASE2	COMPLETED	Observation Study of T-Gel (1%) in Treatment of Adolescent Boys With Hypogonadism
NCT00383656	PHASE2	UNKNOWN	Pulsatile GnRH in Anovulatory Infertility
NCT00697814	PHASE2	COMPLETED	Clomiphene in Males With Prolactinomas and Persistent Hypogonadism
NCT00706719	PHASE2	COMPLETED	To Evaluate Sperm Parameters in Men With Secondary Hypogonadism Previously Treated With Topical Testosterone
NCT00911586	PHASE2	COMPLETED	Pharmacokinetic Study to Determine Time to Steady-state
NCT01155518	PHASE2	TERMINATED	Hypogonadism in Young Men With Type 2 Diabetes
NCT01191320	PHASE2	COMPLETED	Study to Evaluate the Efficacy of Androxal in Controlling Blood Glucose in Men With Type-2 Diabetes Mellitus
NCT01270841	PHASE2	COMPLETED	Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism
NCT01386606	PHASE2	COMPLETED	The Effect on Androxal Versus Androgel on Morning Testosterone in Men With Secondary Hypogonadism (Low Testosterone)
NCT01894308	PHASE2	NOT_YET_RECRUITING	A Dose Ranging Study to Examine TDS-Testosterone 5%
NCT02369796	PHASE2	TERMINATED	A Phase 2a Pharmacodynamic Study of TAK-448 in Participants With Hypogonadotropic Hypogonadism
NCT02443090	PHASE2	UNKNOWN	Safety and Efficacy Study of Oral Fispemifene for the Treatment of Sexual Dysfunction in Hypogonadal Men
NCT02651688	PHASE2	COMPLETED	A Multi-Center Study in Men With Acquired Hypogonadotropic Hypogonadism to Compare Changes in Body Composition and Metabolic Parameters With Diet and Exercise in Conjunction With Treatment With 12.5 mg or 25 mg Enclomiphene
NCT02730169	PHASE2	COMPLETED	Safety and Efficacy of BGS649 in Male Obese Subjects With Hypogonadotropic Hypogonadism
NCT02733133	PHASE2	NOT_YET_RECRUITING	Product Transference Study of Testagen™ TDS®-Testosterone
NCT02908074	PHASE2	COMPLETED	A 6 Month Safety Extension Study of MBGS205
NCT03245827	PHASE2	TERMINATED	Hypogonadotropic Hypogonadism in Obese Young Males