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 AlteredExpression disease BEFREE Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. 29432577 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Since Kallmann syndrome is one of the constituent phenotypes within CHARGE, recent studies have investigated the role of CHD7 mutations in individuals with IHH and established that deleterious missense mutations in CHD7 are associated with Kallmann syndrome as well as normosmic form of IHH. 29152903 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report. 28609304 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 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 		0.600 GeneticVariation disease BEFREE Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome. 25472840 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 AlteredExpression disease BEFREE By performing knockdown experiments for Chd7 in Xenopus laevis embryos, we found abnormalities in the expression pattern of Sema3a, a protein involved in the pathogenesis of Kallmann syndrome, in vivo. 24728844 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Considering the large prevalence and clinical spectrum of CHD7 mutations, it will be particularly relevant to genetic counseling to search for mutations in this gene in KS patients seeking fertility treatment, especially if KS is associated with deafness and cleft lip/palate. 25077900 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE The yield of CHD7 analysis in patients with isolated KS seems very low but increases when additional CHARGE features are present. 22399515 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Therefore, it has been hypothesized that IHH/KS represents a milder allelic variant of CHARGE syndrome, which has been supported by the identification of heterozygous CHD7 mutations in both normosmic IHH and KS. 21856375 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE In addition, some KS patients without CHD7 mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies), possibly implying that, in addition to CHD7, there may be other genes associated with phenotypes ranging from KS to CHARGE. 21682876 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE CHD7 mutations have also been found in some patients with Kallmann syndrome, hypogonadotrophic hypogonadism, and anosmia, and we discuss the overlap between this syndrome and CHARGE syndrome. 21041284 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN Three of 56 KS/nIHH patients had de novo mutations in CHD7. 19021638 2009
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. 19021638 2009
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome. 18834967 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease LHGDN We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome. 18834967 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation disease ORPHANET We hypothesized that CHD7 would be involved in the pathogenesis of IHH and KS (IHH/KS) without the CHARGE phenotype and that IHH/KS represents a milder allelic variant of CHARGE syndrome. 18834967 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Here, we review the known normosmic causes of HH, and discuss novel developmental and molecular mechanisms underlying KS; finally, we introduce three novel genes (NELF, PKR2, and CHD7) that may be associated with some phenotypic features of KS. 17191030 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. 16960397 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease CTD_human