HH18
MCID: HYP532
MIFTS: 24

Hypogonadotropic Hypogonadism 18 with or Without Anosmia (HH18)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 18 with or Without Anosmia 58 12 76 30 74
Hh18 58 76
Hypogonadism, Hypogonadotropic, Type 18 with/without Anosmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant (see miscellaneous below)
digenic

Miscellaneous:
phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in il17rd and another neuroendocrine-related gene (e.g., fgf8 (600483), fgfr1 (136350), kiss1r (604161))


HPO:

33
hypogonadotropic hypogonadism 18 with or without anosmia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

OMIM : 58 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 as well as a discussion of oligogenicity of this disorder, see 147950. (615267)

MalaCards based summary : Hypogonadotropic Hypogonadism 18 with or Without Anosmia, is also known as hh18. An important gene associated with Hypogonadotropic Hypogonadism 18 with or Without Anosmia is IL17RD (Interleukin 17 Receptor D). Affiliated tissues include pituitary, olfactory bulb and heart, and related phenotypes are osteopenia and hearing impairment

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.

UniProtKB/Swiss-Prot : 76 Hypogonadotropic hypogonadism 18 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).

Related Diseases for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 occasional (7.5%) HP:0000938
2 hearing impairment 33 occasional (7.5%) HP:0000365
3 abnormality of the dentition 33 occasional (7.5%) HP:0000164
4 osteoporosis 33 occasional (7.5%) HP:0000939
5 anosmia 33 occasional (7.5%) HP:0000458
6 hypogonadism 33 HP:0000135

Symptoms via clinical synopsis from OMIM:

58
Genitourinary:
delayed or absent puberty

Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Head And Neck Nose:
hyposmia/anosmia

Head And Neck Teeth:
abnormal dentition (in some patients)

Endocrine Features:
delayed or absent puberty

Head And Neck Ears:
hearing loss (in some patients)

Neurologic Central Nervous System:
hyposmia/anosmia

Clinical features from OMIM:

615267

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 30 IL17RD

Anatomical Context for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

42
Pituitary, Olfactory Bulb, Heart

Publications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

# Title Authors Year
1
Blood flow through the embryonic heart outflow tract during cardiac looping in HH13-HH18 chicken embryos. ( 26468069 )
2015
2
Alterations in pulse wave propagation reflect the degree of outflow tract banding in HH18 chicken embryos. ( 23709601 )
2013
3
Biomechanics of the chick embryonic heart outflow tract at HH18 using 4D optical coherence tomography imaging and computational modeling. ( 22844414 )
2012
4
Measurement of absolute blood flow velocity in outflow tract of HH18 chicken embryo based on 4D reconstruction using spectral domain optical coherence tomography. ( 21127734 )
2010
5
Segment-related, mosaic neurogenetic pattern in the forebrain and mesencephalon of early chick embryos: I. Topography of AChE-positive neuroblasts up to stage HH18. ( 3437075 )
1987

Variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

76
# Symbol AA change Variation ID SNP ID
1 IL17RD p.Lys131Thr VAR_069936 rs184758350
2 IL17RD p.Lys162Arg VAR_069937
3 IL17RD p.Pro306Ser VAR_069938
4 IL17RD p.Tyr379Cys VAR_069939 rs369641068
5 IL17RD p.Ser468Leu VAR_069940 rs145221454
6 IL17RD p.Pro577Gln VAR_069941 rs587776980
7 IL17RD p.Ala735Val VAR_069942 rs587776979

Expression for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 18 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

3 CDC
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63 PubMed
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70 SNOMED-CT via HPO
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74 UMLS
75 UMLS via Orphanet
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