HH18
MCID: HYP532
MIFTS: 27

Hypogonadotropic Hypogonadism 18 with or Without Anosmia (HH18)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 72 29 6 70
Hh18 57 72
Hypogonadism, Hypogonadotropic, Type 18 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
digenic dominant
autosomal dominant (see miscellaneous below)

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:

31
hypogonadotropic hypogonadism 18 with or without anosmia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090076
OMIM® 57 615267
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 18 with or Without Anosmia, also known as hh18, is related to hypogonadotropic hypogonadism 13 with or without anosmia. An important gene associated with Hypogonadotropic Hypogonadism 18 with or Without Anosmia is IL17RD (Interleukin 17 Receptor D). Affiliated tissues include pituitary, heart and smooth muscle, 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 : 72 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

Diseases in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 13 with or without anosmia 10.0

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 hearing impairment 31 occasional (7.5%) HP:0000365
3 abnormality of the dentition 31 occasional (7.5%) HP:0000164
4 osteoporosis 31 occasional (7.5%) HP:0000939
5 anosmia 31 occasional (7.5%) HP:0000458
6 hyposmia 31 HP:0004409
7 hypogonadism 31 HP:0000135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia

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

Genitourinary:
delayed or absent puberty

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

Neurologic Central Nervous System:
hyposmia/anosmia

Clinical features from OMIM®:

615267 (Updated 20-May-2021)

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:

40
Pituitary, Heart, Smooth Muscle

Publications for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

(show all 33)
# Title Authors PMID Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 57
23643382 2013
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
How to distinguish between different cell lineages sharing common markers using combinations of double in-situ-hybridization and immunostaining in avian embryos: CXCR4-positive mesodermal and neural crest-derived cells. 61
33037504 2021
4
miR-199 family contributes to regulation of sonic hedgehog expression during craniofacial development. 61
32391617 2020
5
Cardiac injections of AntagomiRs as a novel tool for knockdown of miRNAs during heart development. 61
30496744 2019
6
Cohort-based multiscale analysis of hemodynamic-driven growth and remodeling of the embryonic pharyngeal arch arteries. 61
30333235 2018
7
Hemodynamics Modify Collagen Deposition in the Early Embryonic Chicken Heart Outflow Tract. 61
29367553 2017
8
Expression patterns of Irx genes in the developing chick inner ear. 61
27783221 2017
9
Safety and efficacy of tiotropium in patients switching from HandiHaler to Respimat in the TIOSPIR trial. 61
26715479 2015
10
Blood flow through the embryonic heart outflow tract during cardiac looping in HH13-HH18 chicken embryos. 61
26468069 2015
11
Growth and hemodynamics after early embryonic aortic arch occlusion. 61
25416845 2015
12
Blood flow dynamics reflect degree of outflow tract banding in Hamburger-Hamilton stage 18 chicken embryos. 61
25165602 2014
13
Extending the limits of avian embryo culture with the modified Cornish pasty and whole-embryo transplantation methods. 61
23707610 2014
14
Alterations in pulse wave propagation reflect the degree of outflow tract banding in HH18 chicken embryos. 61
23709601 2013
15
Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro. 61
23557753 2013
16
Biomechanics of the chick embryonic heart outflow tract at HH18 using 4D optical coherence tomography imaging and computational modeling. 61
22844414 2012
17
A modified cornish pasty method for ex ovo culture of the chick embryo. 61
21254336 2011
18
Measurement of absolute blood flow velocity in outflow tract of HH18 chicken embryo based on 4D reconstruction using spectral domain optical coherence tomography. 61
21127734 2010
19
Interactive effects of temperature and hypoxia on heart rate and oxygen consumption of the 3-day old chicken embryo. 61
19914389 2010
20
Neurovascular anatomy of the embryonic quail hindlimb. 61
19685501 2009
21
Aortic arch morphogenesis and flow modeling in the chick embryo. 61
19337838 2009
22
Neural crest ontogeny during secondary neurulation: a gene expression pattern study in the chick embryo. 61
19247972 2009
23
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. 61
18723935 2008
24
The endothelin-1 pathway and the development of cardiovascular defects in the haemodynamically challenged chicken embryo. 61
17901707 2008
25
A model of early molecular regionalization in the chicken embryonic pretectum. 61
17912743 2007
26
Specification of the meso-isthmo-cerebellar region: the Otx2/Gbx2 boundary. 61
16111544 2005
27
Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia. 61
15950213 2005
28
Formation and remodeling of the coronary vascular bed in the embryonic avian heart. 61
15108307 2004
29
Localization of the Wilm's tumour protein WT1 in avian embryos. 61
11291764 2001
30
Genetic parameters and relationships between hip height and weight in Brahman cattle. 61
11132818 2000
31
Smooth muscle cells and fibroblasts of the coronary arteries derive from epithelial-mesenchymal transformation of the epicardium. 61
10195310 1999
32
Immunoreactivity of the ets-1 transcription factor correlates with areas of epithelial-mesenchymal transition in the developing avian heart. 61
9764544 1998
33
Segment-related, mosaic neurogenetic pattern in the forebrain and mesencephalon of early chick embryos: I. Topography of AChE-positive neuroblasts up to stage HH18. 61
3437075 1987

Variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 18 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL17RD NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly) SNV Uncertain significance 1029472 GRCh37: 3:57132358-57132358
GRCh38: 3:57098330-57098330

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

72
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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