SERPINA4, serpin family A member 4, 5267

N. diseases: 45; N. variants: 3
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 		0.100 GeneticVariation disease BEFREE Here, the molecular study of the coding region of the KAL gene (exon 5 to 14) in 10 unrelated females with KS (n=6) or IHH (n=4) is reported. 15004876 2004
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 Biomarker disease BEFREE Genes currently recognized to be involved comprise KAL (associated with X-linked-KS), the GnRH receptor (associated with resistance to GnRH therapy), DAX 1 (associated with adrenohypoplasia congenita) and three loci also associated with obesity, leptin (OB), leptin receptor (DB) and prohormone convertase (PC1). 11531922 2001
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Our conclusions are: 1) Confirmed mutations in the coding sequence of the KAL gene occur in the minority of KS cases, i.e. only 14% of familial and 11% of sporadic cases; 2) The majority of familial (and presumably sporadic) cases of KS are caused by defects in at least two autosomal genes that are currently unknown; 3) Obligate female carriers in families with KAL mutations have no discernible phenotype; 4) KAL mutations are uniformly absent in patients with either normosmic IHH or in families with both anosmic and nonanosmic individuals; and 5) Patients with KAL mutations have apulsatile LH secretion consistent with a complete absence of GnRH migration of GnRH cells into the hypothalamus, whereas evidence of present (but enfeebled) GnRH-induced LH pulses may be present in autosomal KS cases. 11297579 2001
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE To date, 4 genes have been identified as causes of IHH in the human; KAL [the gene for X-linked Kallmann syndrome (IHH and anosmia)], DAX1 [the gene for X-linked adrenal hypoplasia congenita (IHH and adrenal insufficiency)], GNRHR (the GnRH receptor), and PC1 (the gene for prohormone convertase 1, causing a syndrome of IHH and defects in prohormone processing). 11079449 2000
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome. 11044805 2000
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. 10727999 1999
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Kallmann syndrome due to KAL gene mutations and adrenal hypoplasia congenita/HH caused by AHC gene mutations are both X-linked recessive disorders. 10527669 1999
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. 10210557 1999
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE We conducted a mutation screen of the KAL gene in a family with Kallmann syndrome. 9554756 1998
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE We report molecular findings regarding the KAL gene in 12 unrelated males with X-linked KS. 9589672 1998
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the KAL gene have been shown to be responsible for cases of X-linked Kallmann syndrome. 9255219 1997
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. 7590336 1995
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 7677154 1995
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. 7545624 1995
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.100 GeneticVariation disease BEFREE Both deletions were shown to include the entire KAL gene responsible for X-linked KS. 8473391 1993