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 |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
|
30712880 |
2019 |
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 |
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 |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
|
25077900 |
2014 |
Kallmann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Three PROKR2 mutations previously described in KS and one new PROK2 mutation were found.
|
23082007 |
2013 |
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 |
HYPOGONADOTROPIC HYPOGONADISM 4 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
|
18559922 |
2008 |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
|
18559922 |
2008 |
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 |
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 |
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 |
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
|
17054399 |
2006 |