HH16
MCID: HYP518
MIFTS: 27

Hypogonadotropic Hypogonadism 16 with or Without Anosmia (HH16)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 16 with or Without Anosmia 57 12 72 29 13 6 70
Hh16 57 72
Hypogonadism, Hypogonadotropic, Type 16 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
patients have normal pituitary function
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 more than 1 neuroendocrine-related gene

Inheritance:
autosomal dominant (see miscellaneous below)


HPO:

31
hypogonadotropic hypogonadism 16 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090080
OMIM® 57 614897
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3554021

Summaries for Hypogonadotropic Hypogonadism 16 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. (614897) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 16 with or Without Anosmia, is also known as hh16. An important gene associated with Hypogonadotropic Hypogonadism 16 with or Without Anosmia is SEMA3A (Semaphorin 3A). Affiliated tissues include pituitary and testes, and related phenotypes are cryptorchidism and primary amenorrhea

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 16 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 16 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 HP:0000028
2 primary amenorrhea 31 HP:0000786
3 micropenis 31 HP:0000054
4 anosmia 31 HP:0000458
5 azoospermia 31 HP:0000027
6 decreased testicular size 31 HP:0008734
7 hyposmia 31 HP:0004409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia
small testes

Genitourinary External Genitalia Male:
micropenis

Genitourinary:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia

Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

Endocrine Features:
delayed or absent puberty
low serum testosterone in males
low serum estradiol in females
low to normal serum lh low to normal serum fsh

Neurologic Central Nervous System:
hyposmia/anosmia

Clinical features from OMIM®:

614897 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 29 SEMA3A

Anatomical Context for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

40
Pituitary, Testes

Publications for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

(show all 34)
# Title Authors PMID Year
1
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 57 6
22927827 2012
2
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. 6 57
22416012 2012
3
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
4
Chicken Second Branchial Arch Progenitor Cells Contribute to Heart Musculature in vitro and in vivo. 61
33423027 2021
5
In ovo hyperglycemia causes congenital limb defects in chicken embryos via disruption of cell proliferation and apoptosis. 61
32877749 2020
6
Enhancement of glycerol production by UV-mutagenesis of the marine yeast Wickerhamomyces anomalus HH16: kinetics and optimization of the fermentation process. 61
31763124 2019
7
Neurosphere formation potential resides not in the caudal cell mass, but in the secondary neural tube. 61
29139540 2017
8
A Submerged Filter Paper Sandwich for Long-term Ex Ovo Time-lapse Imaging of Early Chick Embryos. 61
28060338 2016
9
Mammalian cell cultures as models for Mycobacterium tuberculosis-human immunodeficiency virus (HIV) interaction studies: A review. 61
27633294 2016
10
Meiotic wave adds extra asymmetry to the development of female chicken gonads. 61
26096940 2015
11
Altered Hemodynamics in the Embryonic Heart Affects Outflow Valve Development. 61
26878022 2015
12
The effects of an environmentally relevant 58-congener polychlorinated biphenyl (PCB) mixture on cardiac development in the chick embryo. 61
23417652 2013
13
Computational fluid dynamics of developing avian outflow tract heart valves. 61
22535311 2012
14
Evidence against involvement of Bmp receptor 1b signaling in fate specification of the chick mesencephalic alar plate at HH16. 61
19539011 2009
15
Birth of ophthalmic trigeminal neurons initiates early in the placodal ectoderm. 61
19266562 2009
16
Minimal and extended hammerheads utilize a similar dynamic reaction mechanism for catalysis. 61
17998291 2008
17
Basement membrane heterogeneity during chick development as shown by tomato (Lycopersicon esculentum) lectin binding. 61
16372245 2006
18
EPR spectroscopic analysis of U7 hammerhead ribozyme dynamics during metal ion induced folding. 61
16171402 2005
19
Identification of the RNA chaperone activity of recombinant human tumor necrosis factor alpha in vitro. 61
15694386 2005
20
Evidence for an extracellular matrix bridge guiding proepicardial cell migration to the myocardium of chick embryos. 61
12889060 2003
21
Selection of hammerhead ribozyme variants with low Mg2+ requirement: importance of stem-loop II. 61
12404631 2002
22
Pitx2 expression defines a left cardiac lineage of cells: evidence for atrial and ventricular molecular isomerism in the iv/iv mice. 61
11180966 2001
23
Immunolocalization of the transcription factor Slug in the developing avian heart. 61
10672362 2000
24
Immunohistochemical evidence for a mesothelial contribution to the ventral wall of the avian aorta. 61
10661320 1999
25
Does the subepicardial mesenchyme contribute myocardioblasts to the myocardium of the chick embryo heart? A quail-chick chimera study tracing the fate of the epicardial primordium. 61
10359522 1999
26
Tobramycin-EDTA conjugate: a noninnocent affinity-cleaving reagent. 61
9934492 1998
27
Immunoreactivity of the ets-1 transcription factor correlates with areas of epithelial-mesenchymal transition in the developing avian heart. 61
9764544 1998
28
The origin of the subepicardial mesenchyme in the avian embryo: an immunohistochemical and quail-chick chimera study. 61
9698456 1998
29
A two-metal ion mechanism operates in the hammerhead ribozyme-mediated cleavage of an RNA substrate. 61
9435228 1998
30
The dorsoventral polarity of the presumptive limb is determined by signals produced by the somites and by the lateral somatopleure. 61
9108362 1997
31
The caudal limit of Otx2 gene expression as a marker of the midbrain/hindbrain boundary: a study using in situ hybridisation and chick/quail homotopic grafts. 61
9012500 1996
32
Specificity of hammerhead ribozyme cleavage. 61
8670879 1996
33
A kinetic and thermodynamic framework for the hammerhead ribozyme reaction. 61
8136375 1994
34
Shaping, invagination, and closure of the chick embryo otic vesicle: scanning electron microscopic and quantitative study. 61
2260786 1990

Variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEMA3A GRCh37/hg19 7q21.11(chr7:83664877-83740076) copy number loss Pathogenic 625633 GRCh37: 7:83664877-83740076
GRCh38:
2 SEMA3A NM_006080.3(SEMA3A):c.2315G>A (p.Ter772=) SNV Pathogenic 1031019 GRCh37: 7:83590688-83590688
GRCh38: 7:83961372-83961372
3 SEMA3A SEMA3A, 213-KB DEL Deletion risk factor 39715 GRCh37:
GRCh38:
4 SEMA3A NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) SNV risk factor 39716 rs147436181 GRCh37: 7:83634712-83634712
GRCh38: 7:84005396-84005396
5 SEMA3A SEMA3A, 14-BP DEL, NT1613 Deletion risk factor 39717 GRCh37:
GRCh38:
6 SEMA3A NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) SNV Uncertain significance 68833 rs318240751 GRCh37: 7:83590941-83590941
GRCh38: 7:83961625-83961625
7 SEMA3A NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) SNV Uncertain significance 68831 rs36026860 GRCh37: 7:83634817-83634817
GRCh38: 7:84005501-84005501
8 SEMA3A NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) SNV Uncertain significance 68836 rs139295139 GRCh37: 7:83689870-83689870
GRCh38: 7:84060554-84060554
9 SEMA3A NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) SNV Uncertain significance 68835 rs318240753 GRCh37: 7:83590805-83590805
GRCh38: 7:83961489-83961489

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 16 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 SEMA3A p.Arg66Trp VAR_069200 rs199979628
2 SEMA3A p.Asn153Ser VAR_069201 rs139295139
3 SEMA3A p.Ile400Val VAR_069202 rs36026860
4 SEMA3A p.Val435Ile VAR_069203 rs147436181
5 SEMA3A p.Thr688Ala VAR_069204 rs318240751
6 SEMA3A p.Arg730Gln VAR_069205 rs318240752
7 SEMA3A p.Arg733His VAR_069206 rs318240753
8 SEMA3A p.Met342Thr VAR_072987
9 SEMA3A p.Asp447Gly VAR_072988 rs761486957
10 SEMA3A p.Ile657Met VAR_072990 rs748219597

Expression for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 16 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 16 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 16 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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