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12 Possible Causes for Kallmann Syndrome, Mutation in the KISS1 Receptor Gene, Synkinesia

  • Hypogonadotropic Hypogonadism Type 8

    Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] Kallmann syndrome - absent puberty with no sense of smell. Me at 18 years old in my final year at school. I had not started puberty yet.[imgur.com]

  • Kallmann Syndrome Type 4

    Synkinesia has been reported in patients with Kallmann syndrome (29,32,33).[78stepshealth.us] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] Kallmann syndrome can have a wide variety of additional signs and symptoms.[ghr.nlm.nih.gov]

  • Kallmann Syndrome

    An X-linked mode of transmission was assumed on the basis of synkinesia and the presence of oligomenorrhoea in the mother.[ncbi.nlm.nih.gov] Some key molecules have been discovered through the study of the genetics of CHH. 1 Inactivating mutations in genes encoding kisspeptin-1 ( KISS1 ) 40 and its receptor ( KISS1R[doi.org] Kallmann syndrome is the result of a genetic defect.[symptoma.com]

  • Kallmann Syndrome Type 3

    Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] gene (KISS1 receptor product)?[quizlet.com] […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org]

  • Hypogonadism

    They often exhibit uncoordinated muscle movements (cerebellar ataxia), or make involuntary movements automatically whenever they make purposeful movements (synkinesia), or[testocreams.com] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis.[ncbi.nlm.nih.gov]

  • Hypogonadotropic Hypogonadism

    In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1[ncbi.nlm.nih.gov] […] in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH. [2] Inactivating mutations of KISS1 or KISS1R causes[en.wikipedia.org] Patients with Kallmann's syndrome or idiopathic hypogonadotropic hypogonadism usually have absent puberty.[endobible.com]

  • Hypogonadotropic Hypogonadism Type 18

    Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] […] two novel missense mutations in the gene encoding the GNRH receptor ( GNRHR1 : NM_000406.2; HGNC: 4421), see Figure 2.[journals.plos.org] syndrome", abstract "The genetic basis is unknown for 60{\%} of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS).[augusta.pure.elsevier.com]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    Table 340-2 Causes of Congenital Hypogonadotropic Hypogonadism Gene Locus Inheritance Associated Features KAL1 Xp22 X-linked Anosmia, renal agenesis, synkinesia, cleft lip[gynecology.blogsky.com] Mutations of the GnRH1 gene have also been reported in patients with hypogonadotropic hypogonadism, although they are rare.[clinicalgate.com] syndrome and GnRH insensitivity[en.wikipedia.org]

  • Male Hypogonadism

    […] include a small penis or undescended testicles in males, kidney abnormalities, cleft lip and/or palate, clubfoot, hearing problems, and central nervous system problems such as synkinesia[encyclopedia.com] gene (KISS1 receptor product)?[quizlet.com] Disorders Causing Pituitary Hypogonadism Brain and pituitary tumors Hemochromatosis Kallmann syndrome Weight loss Obesity Diabetes Testicular Disorders Causing Hypogonadism[louisville.edu]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Synkinesia (KAL1), dental agenesis (FGF8IFGFR1), digital bony abnormalities (FGF8IFGFR1) and hearing loss (CHD7) can be useful for prioritizing genetic screen [ 6 ].[omicsonline.org] Mutations involving the genes GnRH1 and KISS1, are a very rare cause of HH [41], [42].[journals.plos.org] Madan R et al (2004) MRI findings in Kallmann syndrome. Neurol India 52(4):501–503 PubMed 20.[springermedizin.de]