PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE The PROK2 (prokineticin 2) and PROKR2 (prokineticin receptor 2) signaling pathway has been identified to cause human Kallmann syndrome, a developmental disease that associates hypogonadism with anosmia (OB developmental defects). 31132148 2019
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in PKR2 or Bv8/PROK2 have been associated with Kallmann syndrome, a developmental disorder characterized by defective olfactory bulb neurogenesis, impaired development of gonadotropin-releasing hormone neurons, and infertility. 29537336 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Three PROKR2 mutations previously described in KS and one new PROK2 mutation were found. 23082007 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. 23386640 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE To identify mutations in the KAL1, the KAL2, and PROKR2/PROK2 genes and to characterize phenotypic features in 5 Chinese subjects with Kallmann Syndrome (KS) and 6 subjects with normosmic hypogonadotrophic hypogonadism (NHH) in Taiwan. 20530987 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Indeed, the evidence from several naturally inactivating mutations in the PROK2 and PROKR2 genes in patients with Kallmann syndrome and normosmic hypogonadotropic hypogonadism also indicate the essential role of PROK2 in olfactory bulb morphogenesis and GnRH secretion in humans. 20502053 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Even when monoallelic PROK2/PROKR2 mutations are associated with full-blown KS, the reproductive phenotype in males is less severe than in KS associated with biallelic mutations, evidenced by significantly lower frequency of cryptorchidism and micropenis, greater testicular volume, and higher serum levels of LH, FSH and testosterone. 20389090 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Both biallelic and monoallelic mutations in PROK2 or PROKR2 have been found in Kallmann syndrome (KS). 20022991 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation. 18559922 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE We conclude that PROK2 mutations in the homozygous state account for a few cases of Kallmann syndrome. 18285834 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). 18596028 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET In addition, we show that PROKR2 haploinsufficiency is not sufficient to cause Kallmann syndrome or normosmic HH, whereas homozygous loss-of-function mutations either in PROKR2 or PROK2 are sufficient to cause disease phenotype, in accordance with the Prokr2 and Prok2 knockout mouse models. 18682503 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN In addition, we show that PROKR2 haploinsufficiency is not sufficient to cause Kallmann syndrome or normosmic HH, whereas homozygous loss-of-function mutations either in PROKR2 or PROK2 are sufficient to cause disease phenotype, in accordance with the Prokr2 and Prok2 knockout mouse models. 18682503 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation. 18559922 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Recently, mutations in the genes encoding prokineticin 2 (PK2) and prokineticin receptor 2 (PKR2) were reported in a cohort of KS patients, further reinforcing the view of KS as a multigenic trait involving divergent pathways. 18034870 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE More recently, several heterozygous, homozygous or compound heterozygous mutations in the G protein-coupled prokineticin receptor-2 (PROKR2) and one of its ligands, prokineticin-2 (PROK2) were described in Kallmann syndrome. 17624596 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN Two brothers with KS and their sister with nIHH harbored a homozygous deletion in the PROK2 gene (p.[I55fsX1]+[I55fsX1]). 17959774 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Two brothers with KS and their sister with nIHH harbored a homozygous deletion in the PROK2 gene (p.[I55fsX1]+[I55fsX1]). 17959774 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease CTD_human