HH18
MCID: HYP532
MIFTS: 26

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 57 12 74 29 72
Hh18 57 74
Hypogonadism, Hypogonadotropic, Type 18 with/without Anosmia 40

Characteristics:

OMIM:

57
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:

32
hypogonadotropic hypogonadism 18 with or without anosmia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090076
MeSH 44 D007006
ICD10 33 E23.0
UMLS 72 C3808975

Summaries for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

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 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 : 74 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 occasional (7.5%) HP:0000938
2 hearing impairment 32 occasional (7.5%) HP:0000365
3 abnormality of the dentition 32 occasional (7.5%) HP:0000164
4 osteoporosis 32 occasional (7.5%) HP:0000939
5 anosmia 32 occasional (7.5%) HP:0000458
6 hypogonadism 32 HP:0000135

Symptoms via clinical synopsis from OMIM:

57
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 29 IL17RD

Anatomical Context for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

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

41
Pituitary, Olfactory Bulb, Heart, Smooth Muscle

Publications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

(show all 31)
# Title Authors PMID Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 8
23643382 2013
2
Reversal of idiopathic hypogonadotropic hypogonadism. 8
17761590 2007
3
Cardiac injections of AntagomiRs as a novel tool for knockdown of miRNAs during heart development. 38
30496744 2019
4
Cohort-based multiscale analysis of hemodynamic-driven growth and remodeling of the embryonic pharyngeal arch arteries. 38
30333235 2018
5
Hemodynamics Modify Collagen Deposition in the Early Embryonic Chicken Heart Outflow Tract. 38
29367553 2017
6
Expression patterns of Irx genes in the developing chick inner ear. 38
27783221 2017
7
Safety and efficacy of tiotropium in patients switching from HandiHaler to Respimat in the TIOSPIR trial. 38
26715479 2015
8
Blood flow through the embryonic heart outflow tract during cardiac looping in HH13-HH18 chicken embryos. 38
26468069 2015
9
Growth and hemodynamics after early embryonic aortic arch occlusion. 38
25416845 2015
10
Blood flow dynamics reflect degree of outflow tract banding in Hamburger-Hamilton stage 18 chicken embryos. 38
25165602 2014
11
Extending the limits of avian embryo culture with the modified Cornish pasty and whole-embryo transplantation methods. 38
23707610 2014
12
Alterations in pulse wave propagation reflect the degree of outflow tract banding in HH18 chicken embryos. 38
23709601 2013
13
Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro. 38
23557753 2013
14
Biomechanics of the chick embryonic heart outflow tract at HH18 using 4D optical coherence tomography imaging and computational modeling. 38
22844414 2012
15
A modified cornish pasty method for ex ovo culture of the chick embryo. 38
21254336 2011
16
Measurement of absolute blood flow velocity in outflow tract of HH18 chicken embryo based on 4D reconstruction using spectral domain optical coherence tomography. 38
21127734 2010
17
Interactive effects of temperature and hypoxia on heart rate and oxygen consumption of the 3-day old chicken embryo. 38
19914389 2010
18
Neurovascular anatomy of the embryonic quail hindlimb. 38
19685501 2009
19
Aortic arch morphogenesis and flow modeling in the chick embryo. 38
19337838 2009
20
Neural crest ontogeny during secondary neurulation: a gene expression pattern study in the chick embryo. 38
19247972 2009
21
Changes in wall motion and blood flow in the outflow tract of chick embryonic hearts observed with optical coherence tomography after outflow tract banding and vitelline-vein ligation. 38
18723935 2008
22
The endothelin-1 pathway and the development of cardiovascular defects in the haemodynamically challenged chicken embryo. 38
17901707 2008
23
A model of early molecular regionalization in the chicken embryonic pretectum. 38
17912743 2007
24
Specification of the meso-isthmo-cerebellar region: the Otx2/Gbx2 boundary. 38
16111544 2005
25
Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia. 38
15950213 2005
26
Formation and remodeling of the coronary vascular bed in the embryonic avian heart. 38
15108307 2004
27
Localization of the Wilm's tumour protein WT1 in avian embryos. 38
11291764 2001
28
Genetic parameters and relationships between hip height and weight in Brahman cattle. 38
11132818 2000
29
Smooth muscle cells and fibroblasts of the coronary arteries derive from epithelial-mesenchymal transformation of the epicardium. 38
10195310 1999
30
Immunoreactivity of the ets-1 transcription factor correlates with areas of epithelial-mesenchymal transition in the developing avian heart. 38
9764544 1998
31
Segment-related, mosaic neurogenetic pattern in the forebrain and mesencephalon of early chick embryos: I. Topography of AChE-positive neuroblasts up to stage HH18. 38
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:

74
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....