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196 Possible Causes for Kallmann Syndrome, Variable Expressivity within a Family

  • Hypogonadotropic Hypogonadism Type 8

    Schlüsselwörter Kallmann-Syndrom - hypogonadotroper Hypogonadismus - Anosmie - Genetik Keywords Kallmann’s syndrome - hypogonadotropic hypogonadism - anosmia - genetics[thieme-connect.com] First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com] 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

    Kallmann syndrome is the result of a genetic defect.[symptoma.com] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] expressivity of FGFR1 mutations was noticed within families (Figure 1 ).[doi.org]

  • Hypogonadotropic Hypogonadism Type 21

    […] a b c d e f g h i "Kallmann syndrome".[en.wikipedia.org] […] the great variability in clinical expression, even within the same family, as well as the chance, in sporadic cases, of neomutations.[orpha.net] First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com]

  • Hypogonadotropic Hypogonadism Type 18

    syndrome", abstract "The genetic basis is unknown for 60{\%} of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS).[augusta.pure.elsevier.com] First, disease-associated mutations display striking incomplete penetrance and variable expressivity within and across IHH families.[karger.com] In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed[uniprot.org]

  • CHARGE Syndrome

    We report on a 14 7/12-year-old Japanese female patient with CHARGE syndrome and CHD7 mutation who also exhibited Kallmann syndrome (KS) phenotype.[ncbi.nlm.nih.gov] CHARGE syndrome shows extremely variable expressivity, even within the same family.[invitae.com] This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a[ncbi.nlm.nih.gov]

  • Anorchia

    Conditions associated with hypogonadotropic hypogonadism Kallmann syndrome Anosmia (lack of sense of smell) or hyposmia is a prominent feature of Kallmann syndrome, which[emedicine.medscape.com] It also demonstrates the variability of the expression of the phenotype within the families.[bmcpediatr.biomedcentral.com] Secondary hypogonadism ( hypogonadotropic hypogonadism ) is most often caused by pituitary or hypothalamic disorders (e.g, craniopharyngioma , Kallmann syndrome ).[amboss.com]

  • Spastic Paraparesis-Deafness Syndrome

    Back to: « Kallmann syndrome Symptoms of Kallmann syndrome with spastic paraplegia Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or[familydiagnosis.com] Certain genes, such as HSPD1, REEP1, and SPAST, are known to have reduced penetrance and variable expression within a family.[invitae.com] […] cyst Autosomal dominant intermediate Charcot-Marie-Tooth Curry Jones syndrome Kallmann syndrome 1 Upington disease X-linked adrenal hypoplasia congenita Ichthyosis lamellar[checkrare.com]

  • Muckle-Wells Syndrome

    , and renal disease (HDR) Jervell and Lange-Nielsen Syndrome Kallmann Syndrome Keratitis-Ichthyosis-Deafness syndrome (KID syndrome) Marshall syndrome Maternally Inherited[genedx.com] Genetic counseling Transmission is autosomal dominant with variable expression within a family and from one family to another.[orpha.net] (DOORS) Deafness-Infertility Syndrome Dentinogenesis Imperfecta and Deafness Hereditary Sensory and Autonomic Neuropathy IE (HSAN1E) Hypoparathyroidism, sensorineural deafness[genedx.com]

  • Juvenile Polyp

    ) FGFR1 ( Pfeiffer syndrome, KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3[en.wikipedia.org] Juvenile Polyposis has variable expressivity.[atlasgeneticsoncology.org] Within family members who carry the same mutation, the disease expression can be variable.[clinicaladvisor.com]

  • Familial Short Stature

    , gonadal dysgenesis, Kallmann's syndrome, Turner syndrome, Klinefelter's syndrome, and other rarer conditions.[endobible.com] The functional studies are in line with the inactivation of one copy of the IGF1R gene with variable expression within the same family.[ncbi.nlm.nih.gov] Kallmann’s syndrome is typified by anosmia and hypogonadotropic hypogonadism. Has the patient had any dental problems?[endobible.com]

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