Hypogonadotropic Hypogonadism 12 with or Without Anosmia (HH12)

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Disease Ontology 12 DOID:0090072 OMIM 56 614841 OMIM Phenotypic Series 56 PS147950 MeSH 43 D007006

ICD10 32 E23.0 MedGen 41 C1856897 C3553845 CN143964 SNOMED-CT via HPO 68 123526007 131078003 166449002 204878001 258211005 276411001 33927004 34911001 35850006 400003000 44169009 8913004 93279005 more UMLS 71 C1856897 C3553845

OMIM : ⁵⁶ Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. (614841)

MalaCards based summary : Hypogonadotropic Hypogonadism 12 with or Without Anosmia, also known as eunuchoidism, familial hypogonadotropic, is related to gordon holmes syndrome and ataxia and polyneuropathy, adult-onset. An important gene associated with Hypogonadotropic Hypogonadism 12 with or Without Anosmia is GNRH1 (Gonadotropin Releasing Hormone 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. Affiliated tissues include pituitary, olfactory bulb and ovary, and related phenotypes are anosmia and delayed puberty

Disease Ontology : ¹² A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.

UniProtKB/Swiss-Prot : ⁷³ Hypogonadotropic hypogonadism 12 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. 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 normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Clinical features from OMIM:

614841

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