HH12
MCID: HYP547
MIFTS: 34
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Hypogonadotropic Hypogonadism 12 with or Without Anosmia (HH12)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
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MalaCards integrated aliases for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 family (last curated october 2014) HPO:31
hypogonadotropic hypogonadism 12 with or without anosmia:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Endocrine diseases Reproductive diseases Neuronal diseases Smell/Taste diseases
ICD10:
32
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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). |
Human phenotypes related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614841 |
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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:40
Pituitary,
Olfactory Bulb,
Ovary,
Uterus,
Testes,
Heart
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Articles related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:(show all 29)
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ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:6 (show all 18)
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