Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

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Term Occurence Count Dictionary
Kallmann syndrome 7 endocrinologydiseases
congenital hypothyroidism 1 endocrinologydiseases
cortisol 1 endocrinologydiseasesdrugs
hypoglycemia 1 endocrinologydiseases
hypogonadism 8 endocrinologydiseases
hypopituitarism 2 endocrinologydiseases
hypothyroidism 1 endocrinologydiseases
testosterone 1 endocrinologydiseasesdrugs

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Select Drug Character Offset Drug Term Instance
cortisol 10227 stalk, consistent with PSIS. Hydrocortisone replacement was begun at 6 weeks of life based on low serum cortisol levels of ∼1 to 2 μg/dL. At birth he was thought to have a normal-sized phallus, but at 8 months
testosterone 10356 μg/dL. At birth he was thought to have a normal-sized phallus, but at 8 months of life he received testosterone , 25 mg intramuscularly every 3 weeks × 6, for small phallus.Growth hormone status was initially normal,
Select Disease Character Offset Disease Term Instance
Kallmann syndrome 13561 some, although not all, WDR11 mutations in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome ([7]). Our coimmunoprecipitation Western blot assay indicated that the p.I436V variant of WDR11 was
Kallmann syndrome 19203 PROKR2 have previously been associated with hypogonadotropic hypogonadism with or without anosmia and Kallmann syndrome ([17]).Several lines of evidence indicate that PROKR2 p.R85C is pathogenic. First, the amino acid change
Kallmann syndrome 21242 variant is therefore classified as pathogenic.In addition, in the mouse model of PROKR2 deficiency, the Kallmann syndrome phenotype is observed only in the homozygous animals ([18]). In human studies as well as in animal models,
Kallmann syndrome 21606 environmental, to produce pituitary disease. This hypothesis was further supported when a patient with Kallmann syndrome was discovered to carry the same PROKR2 heterozygous mutation as our proband, p.R85C, in combination
Kallmann syndrome 22023 the hypothalamus and pituitary, and reduced expression or activity of PROKR2 is implicated in both Kallmann syndrome and PSIS, perhaps because of the important role this signaling pathway plays in endocrine angiogenesis
Kallmann syndrome 24522 has been described in a heterozygous state in patients with idiopathic hypogonadotropic hypogonadism, Kallmann syndrome , healthy first-degree relatives of Kallmann probands, and rare healthy controls. We therefore propose
Kallmann syndrome 24855 through digenic inheritance, as previously demonstrated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome ([12], [25]). Further studies are needed to elucidate in more detail the role of PROKR2 signaling in
congenital hypothyroidism 9890 developed transient, mild hypoglycemia within the first 36 hours of life and was diagnosed with central congenital hypothyroidism on the basis of low thyroid hormone levels on newborn screening. Magnetic resonance imaging of the brain
hypoglycemia 9812 and ABCC8 (MIM 600509; NM_000352.4; rs151344623) c.3989-9G>A mutations.He developed transient, mild hypoglycemia within the first 36 hours of life and was diagnosed with central congenital hypothyroidism on the basis
hypogonadism 13544 capacity is lost by some, although not all, WDR11 mutations in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome ([7]). Our coimmunoprecipitation Western blot assay indicated that the p.I436V
hypogonadism 18381 facioscapulohumeral muscular dystrophy and, perhaps more relevantly, in some forms of idiopathic hypogonadotropic hypogonadism ([12]). The number of conditions exhibiting digenic inheritance continues to grow ([13]). Indeed, a
hypogonadism 19162 hormone secretion ([16]). Mutations in PROKR2 have previously been associated with hypogonadotropic hypogonadism with or without anosmia and Kallmann syndrome ([17]).Several lines of evidence indicate that PROKR2
hypogonadism 20008 mutation has previously been identified in an individual with normosomic idiopathic hypogonadotropic hypogonadism ([17]). The same heterozygous mutation on PROKR2 that was identified in the proband here, c.253C>T;p.R85C,
hypogonadism 23124 amino acid substitutions that have been identified in individuals with idiopathic hypogonadotropic hypogonadism with and without anosmia ([7], [24]), disrupted interaction of WDR11 with EMX1. Specifically, heterozygous
hypogonadism 23448 (c.1343G>A;p.R448Q; rs144440500) have been identified in each of two individuals with idiopathic hypogonadotropic hypogonadism and normosmia ([7]). In addition, in a different individual, the WDR11 p.A435T mutation was identified
hypogonadism 24508 p.R85C variant has been described in a heterozygous state in patients with idiopathic hypogonadotropic hypogonadism , Kallmann syndrome, healthy first-degree relatives of Kallmann probands, and rare healthy controls.
hypogonadism 24838 PSIS phenotype through digenic inheritance, as previously demonstrated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome ([12], [25]). Further studies are needed to elucidate in more detail the role
hypopituitarism 1957 child with PSIS and his unaffected family implicates a digenic mechanism of inheritance. In cases of hypopituitarism in which there is incomplete segregation of a monogenic genotype with the phenotype, the possibility
hypopituitarism 15955 0.0001.DiscussionPSIS is a common finding in patients with pituitary hormone deficiency and accounts for hypopituitarism in >11% of adult patients ([8]) and in 29 of 46 children with idiopathic growth hormone deficiency ([9]).
hypothyroidism 9901 transient, mild hypoglycemia within the first 36 hours of life and was diagnosed with central congenital hypothyroidism on the basis of low thyroid hormone levels on newborn screening. Magnetic resonance imaging of the brain

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