Hypogonadotropic Hypogonadism 12 with or Without Anosmia (HH12)

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OMIM 57 614841 Disease Ontology 12 DOID:0090072 ICD10 33 E23.0 MedGen 42 C1856897 C3553845 CN143964

MeSH 44 D007006 SNOMED-CT via HPO 69 258211005 35850006 204878001 33927004 34911001 44169009 8913004 123526007 400003000 166449002 93279005 276411001 131078003 more UMLS 73 C3553845 C1856897

OMIM : ⁵⁷ 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, is also known as eunuchoidism, familial hypogonadotropic. An important gene associated with Hypogonadotropic Hypogonadism 12 with or Without Anosmia is GNRH1 (Gonadotropin Releasing Hormone 1). Affiliated tissues include pituitary, olfactory bulb and ovary, and related phenotypes are delayed puberty and cryptorchidism

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

UniProtKB/Swiss-Prot : ⁷⁵ 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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